608715[MIM] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	SNTG2-AS1, TMEM18 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153475	GRCh38/hg38 2p25.3(chr2:12770-2748672)x1	ACP1, ALKAL2 +50 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152339	GRCh38/hg38 2p25.3(chr2:12770-2310816)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 152888	GRCh38/hg38 2p25.3(chr2:17019-2305267)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148892	GRCh38/hg38 2p25.3(chr2:17019-1645317)x1	LOC126806094, LOC126806095 +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 148720	GRCh38/hg38 2p25.3(chr2:17019-1029157)x1	LINC01874, ACP1 +35 more	Copy number loss	See cases	GUncertain significance
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	ACP1, ADI1 +107 more	Copy number gain	See cases	GPathogenic
Select item 148175	GRCh38/hg38 2p25.3(chr2:30341-2656139)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 146260	GRCh38/hg38 2p25.3(chr2:30341-1969402)x1	ACP1, ALKAL2 +45 more	Copy number loss	See cases	GPathogenic
Select item 146223	GRCh38/hg38 2p25.3(chr2:30341-3449132)x1	ACP1, ALKAL2 +75 more	Copy number loss	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 153089	GRCh38/hg38 2p25.3(chr2:39193-992648)x1	ACP1, ALKAL2 +35 more	Copy number loss	See cases	GUncertain significance
Select item 147583	GRCh38/hg38 2p25.3(chr2:39193-1542734)x1	ACP1, ALKAL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 60104	GRCh38/hg38 2p25.3(chr2:50661-3293835)x1	ACP1, ALKAL2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 154817	GRCh38/hg38 2p25.3(chr2:131730-2713517)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153456	GRCh38/hg38 2p25.3(chr2:330108-1021300)x3	LINC01115, LINC01865 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146176	GRCh38/hg38 2p25.3(chr2:622175-1110952)x3	LINC01115, LINC01939 +11 more	Copy number gain	See cases	GBenign
Select item 58807	GRCh38/hg38 2p25.3(chr2:694400-1433587)x3	LINC01115, LINC01939 +12 more	Copy number gain	See cases	GUncertain significance
Select item 152526	GRCh38/hg38 2p25.3(chr2:848908-1110952)x3	LINC01115, LINC01939 +7 more	Copy number gain	See cases	GBenign
Select item 58808	GRCh38/hg38 2p25.3(chr2:860301-1128993)x3	LINC01115, LINC01939 +6 more	Copy number gain	See cases	GUncertain significance
Select item 153114	GRCh38/hg38 2p25.3(chr2:888150-1784776)x3	LINC01939, LOC102723730 +11 more	Copy number gain	See cases	GUncertain significance
Select item 147872	GRCh38/hg38 2p25.3(chr2:888150-1491401)x3	LINC01939, LOC122710286 +7 more	Copy number gain	See cases	GBenign
Select item 3167103	NM_018968.4(SNTG2):c.17C>T (p.Pro6Leu)	SNTG2, SNTG2-AS1 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321956	NM_018968.4(SNTG2):c.43C>G (p.Arg15Gly)	SNTG2, SNTG2-AS1 (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151092	GRCh38/hg38 2p25.3(chr2:1007275-1205941)x3	LOC126806101, SNTG2	Copy number gain	See cases	GUncertain significance
Select item 2316369	NM_018968.4(SNTG2):c.91C>A (p.Leu31Met)	SNTG2 (L31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615973	NM_018968.4(SNTG2):c.103G>A (p.Glu35Lys)	SNTG2 (E35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309816	NM_018968.4(SNTG2):c.110C>A (p.Ser37Tyr)	SNTG2 (S37Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167099	NM_018968.4(SNTG2):c.124G>A (p.Asp42Asn)	SNTG2 (D42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395486	NM_018968.4(SNTG2):c.128T>C (p.Ile43Thr)	SNTG2 (I43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724559	NM_018968.4(SNTG2):c.143C>T (p.Thr48Met)	SNTG2 (T48M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780020	NM_018968.4(SNTG2):c.149A>C (p.Glu50Ala)	SNTG2 (E50A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713266	NM_018968.4(SNTG2):c.171A>G (p.Gln57=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2360735	NM_018968.4(SNTG2):c.201G>C (p.Gln67His)	SNTG2 (Q67H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539291	NM_018968.4(SNTG2):c.203G>A (p.Gly68Asp)	SNTG2 (G68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522923	NM_018968.4(SNTG2):c.211C>T (p.Arg71Cys)	SNTG2 (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167104	NM_018968.4(SNTG2):c.217A>G (p.Thr73Ala)	SNTG2 (T73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289809	NM_018968.4(SNTG2):c.224C>A (p.Thr75Lys)	SNTG2 (T75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152816	GRCh38/hg38 2p25.3(chr2:1110952-1714227)x3	LOC102723730, LOC122710286 +7 more	Copy number gain	See cases	GUncertain significance
Select item 58809	GRCh38/hg38 2p25.3(chr2:1110952-1699889)x3	LOC102723730, LOC122710286 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3167105	NM_018968.4(SNTG2):c.349G>T (p.Val117Leu)	SNTG2 (V117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491885	NM_018968.4(SNTG2):c.384T>G (p.His128Gln)	SNTG2 (H128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767778	NM_018968.4(SNTG2):c.468G>A (p.Arg156=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458028	NM_018968.4(SNTG2):c.476C>T (p.Pro159Leu)	SNTG2 (P159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739545	NM_018968.4(SNTG2):c.477G>A (p.Pro159=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713036	NM_018968.4(SNTG2):c.516C>T (p.Ser172=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3167107	NM_018968.4(SNTG2):c.533G>C (p.Gly178Ala)	SNTG2 (G178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721474	NM_018968.4(SNTG2):c.558C>T (p.Ser186=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407416	NM_018968.4(SNTG2):c.559G>A (p.Gly187Ser)	SNTG2 (G187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303468	NM_018968.4(SNTG2):c.584G>A (p.Ser195Asn)	SNTG2 (S195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789265	NM_018968.4(SNTG2):c.611C>T (p.Ser204Leu)	SNTG2 (S204L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3167108	NM_018968.4(SNTG2):c.638A>G (p.Glu213Gly)	SNTG2 (E213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215632	NM_018968.4(SNTG2):c.643C>T (p.Arg215Cys)	SNTG2 (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347300	NM_018968.4(SNTG2):c.644G>A (p.Arg215His)	SNTG2 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724334	NM_018968.4(SNTG2):c.663C>G (p.Ser221=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2392645	NM_018968.4(SNTG2):c.683G>A (p.Arg228His)	SNTG2 (R228H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750974	NM_018968.4(SNTG2):c.693G>A (p.Arg231=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469388	NM_018968.4(SNTG2):c.703G>A (p.Gly235Arg)	SNTG2 (G235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247852	NM_018968.4(SNTG2):c.725A>G (p.Asn242Ser)	SNTG2 (N242S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 729107	NM_018968.4(SNTG2):c.813G>A (p.Ala271=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2367656	NM_018968.4(SNTG2):c.846G>T (p.Gln282His)	SNTG2 (Q282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454908	NM_018968.4(SNTG2):c.860C>T (p.Ala287Val)	SNTG2 (A287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363481	NM_018968.4(SNTG2):c.869G>A (p.Cys290Tyr)	SNTG2 (C290Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623404	NM_018968.4(SNTG2):c.883G>C (p.Asp295His)	SNTG2 (D295H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 746865	NM_018968.4(SNTG2):c.894G>A (p.Val298=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478383	NM_018968.4(SNTG2):c.952C>G (p.Pro318Ala)	SNTG2 (P318A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603938	NM_018968.4(SNTG2):c.984C>A (p.Phe328Leu)	SNTG2 (F328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533017	NM_018968.4(SNTG2):c.1048C>T (p.Leu350Phe)	SNTG2 (L350F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167098	NM_018968.4(SNTG2):c.1063T>C (p.Phe355Leu)	SNTG2 (F355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747749	NM_018968.4(SNTG2):c.1119T>C (p.Tyr373=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293822	NM_018968.4(SNTG2):c.1142T>C (p.Phe381Ser)	SNTG2 (F381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473006	NM_018968.4(SNTG2):c.1160A>G (p.Tyr387Cys)	SNTG2 (Y387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736849	NM_018968.4(SNTG2):c.1179C>T (p.Ala393=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354617	NM_018968.4(SNTG2):c.1277G>A (p.Arg426Lys)	SNTG2 (R426K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211453	NM_018968.4(SNTG2):c.1280C>G (p.Thr427Ser)	SNTG2 (T427S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167101	NM_018968.4(SNTG2):c.1298T>C (p.Met433Thr)	SNTG2 (M433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167102	NM_018968.4(SNTG2):c.1339T>A (p.Phe447Ile)	SNTG2 (F447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473818	NM_018968.4(SNTG2):c.1343C>T (p.Ala448Val)	SNTG2 (A448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597037	NM_018968.4(SNTG2):c.1364A>G (p.Glu455Gly)	SNTG2 (E455G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481230	NM_018968.4(SNTG2):c.1379A>C (p.Asn460Thr)	SNTG2 (N460T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690053	NM_018968.4(SNTG2):c.1438C>T (p.Arg480Ter)	SNTG2 (R480*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2510771	NM_018968.4(SNTG2):c.1439G>A (p.Arg480Gln)	SNTG2 (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312783	NM_018968.4(SNTG2):c.1439G>C (p.Arg480Pro)	SNTG2 (R480P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456981	NM_018968.4(SNTG2):c.1495G>A (p.Glu499Lys)	SNTG2 (E499K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363480	NM_018968.4(SNTG2):c.1502A>G (p.Gln501Arg)	SNTG2 (Q501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411505	NM_018968.4(SNTG2):c.1561G>A (p.Val521Met)	SNTG2 (V521M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775703	NM_018968.4(SNTG2):c.1570G>C (p.Gly524Arg)	SNTG2 (G524R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3242306	GRCh37/hg19 2p25.3(chr2:11314-3033976)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2685847	GRCh37/hg19 2p25.3(chr2:210212-1048484)x3	ACP1, ALKAL2 +3 more	Copy number gain	not provided	GUncertain significance

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