4163[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994289, LOC129994290 +342 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 3124190	NM_001085377.2(MCC):c.3037C>A (p.His1013Asn)	MCC (H1013N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124189	NM_001085377.2(MCC):c.3002G>A (p.Arg1001Lys)	MCC (R1001K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408897	NM_001085377.2(MCC):c.2966A>G (p.Glu989Gly)	MCC (E799G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91941	NM_001085377.2(MCC):c.2951T>C (p.Met984Thr)	MCC (M984T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526174	NM_001085377.2(MCC):c.2936A>G (p.Lys979Arg)	MCC (K789R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508111	NM_001085377.2(MCC):c.2854G>A (p.Val952Met)	MCC (V762M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771382	NM_001085377.2(MCC):c.2821A>T (p.Ser941Cys)	MCC (S751C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3124188	NM_001085377.2(MCC):c.2812A>G (p.Thr938Ala)	MCC (T938A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368330	NM_001085377.2(MCC):c.2801T>C (p.Leu934Ser)	MCC (L744S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213058	NM_001085377.2(MCC):c.2795G>A (p.Ser932Asn)	MCC (S742N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124187	NM_001085377.2(MCC):c.2791G>C (p.Val931Leu)	MCC (V741L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223285	NM_001085377.2(MCC):c.2786A>G (p.Glu929Gly)	MCC (E739G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592733	NM_001085377.2(MCC):c.2753G>A (p.Arg918His)	MCC (R918H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757387	NM_001085377.2(MCC):c.2745C>T (p.Asn915=)	MCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610994	NM_001085377.2(MCC):c.2737T>C (p.Phe913Leu)	MCC (F723L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261439	NM_001085377.2(MCC):c.2731G>T (p.Ala911Ser)	MCC (A911S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221918	NM_001085377.2(MCC):c.2716G>A (p.Glu906Lys)	MCC (E906K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124186	NM_001085377.2(MCC):c.2701A>T (p.Arg901Trp)	MCC (R901W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550877	NM_001085377.2(MCC):c.2699T>G (p.Leu900Arg)	MCC (L710R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369890	NM_001085377.2(MCC):c.2695G>A (p.Glu899Lys)	MCC (E709K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14202	NM_001085377.2(MCC):c.2663C>T (p.Ala888Val)	MCC (A698V +1 more)	Single nucleotide variant (missense variant)	Carcinoma of colon	GPathogenic
Select item 2468267	NM_001085377.2(MCC):c.2654A>T (p.Lys885Met)	MCC (K695M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369870	NM_001085377.2(MCC):c.2528G>A (p.Arg843Gln)	MCC (R843Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219411	NM_001085377.2(MCC):c.2525C>T (p.Thr842Met)	MCC (T652M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605460	NM_001085377.2(MCC):c.2504C>A (p.Ala835Asp)	MCC (A835D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369422	NM_001085377.2(MCC):c.2425A>C (p.Met809Leu)	MCC (M619L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124185	NM_001085377.2(MCC):c.2416G>A (p.Ala806Thr)	MCC (A616T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708937	NM_001085377.2(MCC):c.2415C>T (p.Asn805=)	MCC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788097	NM_001085377.2(MCC):c.2267A>G (p.Glu756Gly)	MCC (E566G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2326611	NM_001085377.2(MCC):c.2266G>A (p.Glu756Lys)	MCC (E566K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748688	NM_001085377.2(MCC):c.2265C>T (p.Asp755=)	MCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2279796	NM_001085377.2(MCC):c.2248G>A (p.Glu750Lys)	MCC (E560K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608673	NM_001085377.2(MCC):c.2198C>T (p.Ser733Phe)	MCC (S733F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360654	NM_001085377.2(MCC):c.2158G>A (p.Val720Met)	MCC (V720M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124183	NM_001085377.2(MCC):c.2156C>T (p.Ala719Val)	MCC (A529V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712996	NM_001085377.2(MCC):c.2143G>C (p.Gly715Arg)	MCC (G715R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 14203	NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln)	MCC (R506Q +1 more)	Single nucleotide variant (missense variant)	Carcinoma of colon	GPathogenic
Select item 3124182	NM_001085377.2(MCC):c.2072G>T (p.Arg691Leu)	MCC (R501L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720151	NM_001085377.2(MCC):c.2007G>A (p.Ala669=)	MCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124181	NM_001085377.2(MCC):c.1996C>A (p.Gln666Lys)	MCC (Q476K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124180	NM_001085377.2(MCC):c.1955T>A (p.Leu652His)	MCC (L462H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404392	NM_001085377.2(MCC):c.1927G>A (p.Glu643Lys)	MCC (E453K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769303	NM_001085377.2(MCC):c.1925+5_1925+6insAGGAAGACAGCGCG	MCC	Insertion (intron variant)	not provided	GBenign
Select item 2311852	NM_001085377.2(MCC):c.1909C>A (p.Leu637Met)	MCC (L447M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778213	NM_001085377.2(MCC):c.1902G>A (p.Ala634=)	MCC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2307149	NM_001085377.2(MCC):c.1847G>A (p.Ser616Asn)	MCC (S426N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469792	NM_001085377.2(MCC):c.1811A>T (p.Asn604Ile)	MCC (N414I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778214	NM_001085377.2(MCC):c.1788G>T (p.Arg596=)	MCC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776055	NM_001085377.2(MCC):c.1785-4G>T	MCC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2376465	NM_001085377.2(MCC):c.1738G>A (p.Glu580Lys)	LOC126807478, MCC (E390K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476386	NM_001085377.2(MCC):c.1676A>C (p.Gln559Pro)	LOC126807478, MCC (Q559P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776056	NM_001085377.2(MCC):c.1635+10C>G	MCC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1050483	NM_001085377.2(MCC):c.1620A>T (p.Glu540Asp)	MCC (E350D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313244	NM_001085377.2(MCC):c.1601G>A (p.Arg534Gln)	MCC (R534Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224131	NM_001085377.2(MCC):c.1540G>A (p.Ala514Thr)	MCC (A324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749484	NM_001085377.2(MCC):c.1518C>T (p.Ser506=)	MCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2531113	NM_001085377.2(MCC):c.1460G>A (p.Arg487His)	MCC (R297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476277	NM_001085377.2(MCC):c.1450A>C (p.Ser484Arg)	MCC (S294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468478	NM_001085377.2(MCC):c.1385G>A (p.Arg462Gln)	MCC (R272Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124179	NM_001085377.2(MCC):c.1345A>G (p.Thr449Ala)	MCC (T259A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388331	NM_001085377.2(MCC):c.1223G>A (p.Arg408Gln)	MCC (R408Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402057	NM_001085377.2(MCC):c.1129G>A (p.Glu377Lys)	MCC (E377K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512294	NM_001085377.2(MCC):c.1123G>A (p.Val375Met)	MCC (V375M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245618	NM_001085377.2(MCC):c.1094G>T (p.Gly365Val)	MCC (G365V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325539	NM_001085377.2(MCC):c.1024A>G (p.Met342Val)	MCC (M342V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234563	NM_001085377.2(MCC):c.996A>T (p.Glu332Asp)	MCC (E332D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464569	NM_001085377.2(MCC):c.977C>A (p.Thr326Asn)	MCC (T326N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784057	NM_001085377.2(MCC):c.929G>A (p.Ser310Asn)	MCC (S310N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2408938	NM_001085377.2(MCC):c.919C>T (p.Leu307Phe)	MCC (L117F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124196	NM_001085377.2(MCC):c.894T>A (p.Asp298Glu)	MCC (D108E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456503	NM_001085377.2(MCC):c.893A>T (p.Asp298Val)	MCC (D108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729799	NM_001085377.2(MCC):c.843G>A (p.Glu281=)	MCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124195	NM_001085377.2(MCC):c.841G>A (p.Glu281Lys)	MCC (E281K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532555	NM_001085377.2(MCC):c.814A>G (p.Ile272Val)	MCC (I272V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597487	NM_001085377.2(MCC):c.809A>G (p.Glu270Gly)	MCC (E80G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219319	NM_001085377.2(MCC):c.800G>A (p.Arg267His)	MCC (R267H +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2593253	NM_001085377.2(MCC):c.791C>T (p.Thr264Met)	MCC (T264M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458221	NM_001085377.2(MCC):c.788G>A (p.Arg263Gln)	MCC (R263Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268912	NM_001085377.2(MCC):c.771T>G (p.His257Gln)	MCC (H67Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387515	NM_001085377.2(MCC):c.756C>A (p.His252Gln)	MCC (H252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349395	NM_001085377.2(MCC):c.750G>C (p.Gln250His)	MCC (Q250H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604849	NM_001085377.2(MCC):c.749A>G (p.Gln250Arg)	MCC (Q250R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050178	NM_001085377.2(MCC):c.745G>A (p.Glu249Lys)	MCC (E249K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124194	NM_001085377.2(MCC):c.742T>C (p.Cys248Arg)	MCC (C58R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124193	NM_001085377.2(MCC):c.646G>C (p.Ala216Pro)	MCC (A216P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152436	GRCh38/hg38 5q22.2(chr5:113164391-113235313)x1	LOC126807479, MCC	Copy number loss	See cases	GUncertain significance
Select item 2292767	NM_001085377.2(MCC):c.623A>G (p.Asn208Ser)	MCC (N208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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