12790[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	FAM3B, GET1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 3099416	NM_004627.6(GET1):c.5G>C (p.Ser2Thr)	GET1, GET1-SH3BGR (S2T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099406	NM_004627.6(GET1):c.11C>T (p.Ala4Val)	GET1, GET1-SH3BGR (A4V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281222	NM_004627.6(GET1):c.46A>G (p.Ser16Gly)	GET1, GET1-SH3BGR (S16G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099417	NM_004627.6(GET1):c.65A>G (p.Asn22Ser)	GET1, GET1-SH3BGR (N22S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099407	NM_004627.6(GET1):c.128C>T (p.Ala43Val)	GET1, GET1-SH3BGR (A43V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099408	NM_004627.6(GET1):c.136G>C (p.Glu46Gln)	GET1, GET1-SH3BGR (E22Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099409	NM_004627.6(GET1):c.166A>G (p.Met56Val)	GET1, GET1-SH3BGR (M22V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099410	NM_004627.6(GET1):c.171G>T (p.Lys57Asn)	GET1, GET1-SH3BGR (K33N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099411	NM_004627.6(GET1):c.202G>A (p.Glu68Lys)	GET1, GET1-SH3BGR (E68K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099412	NM_004627.6(GET1):c.257T>G (p.Leu86Arg)	GET1, GET1-SH3BGR (L52R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531263	NM_004627.6(GET1):c.266A>G (p.His89Arg)	GET1, GET1-SH3BGR (H89R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099413	NM_004627.6(GET1):c.277C>T (p.Arg93Trp)	GET1, GET1-SH3BGR (R59W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588774	NM_004627.6(GET1):c.299T>G (p.Ile100Arg)	GET1, GET1-SH3BGR (I66R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099414	NM_004627.6(GET1):c.376G>A (p.Val126Ile)	GET1, GET1-SH3BGR (V126I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2596033	NM_004627.6(GET1):c.391G>A (p.Val131Met)	GET1, GET1-SH3BGR (V131M +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3099415	NM_004627.6(GET1):c.421C>T (p.Arg141Cys)	GET1, GET1-SH3BGR (R107C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2588738	NM_004627.6(GET1):c.422G>A (p.Arg141His)	GET1, GET1-SH3BGR (R107H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2326865	NM_152505.4(LCA5L):c.1985C>T (p.Thr662Ile)	GET1, GET1-SH3BGR +1 more (T532I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248756	NM_152505.4(LCA5L):c.1936G>A (p.Gly646Arg)	GET1, GET1-SH3BGR +1 more (G516R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2463220	NM_152505.4(LCA5L):c.1882A>G (p.Ser628Gly)	GET1, GET1-SH3BGR +1 more (S498G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2652665	NM_152505.4(LCA5L):c.1863C>G (p.Gly621=)	GET1, GET1-SH3BGR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2360194	NM_152505.4(LCA5L):c.1796T>C (p.Met599Thr)	GET1, GET1-SH3BGR +1 more (M599T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652666	NM_152505.4(LCA5L):c.1722T>C (p.Tyr574=)	GET1, GET1-SH3BGR +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2558372	NM_152505.4(LCA5L):c.1630G>A (p.Ala544Thr)	GET1, GET1-SH3BGR +1 more (A414T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118016	NM_152505.4(LCA5L):c.1585G>C (p.Ala529Pro)	GET1, GET1-SH3BGR +1 more (A529P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338737	NM_152505.4(LCA5L):c.1541C>T (p.Thr514Met)	GET1, GET1-SH3BGR +1 more (T384M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652667	NM_152505.4(LCA5L):c.1536C>G (p.Pro512=)	GET1, GET1-SH3BGR +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2384505	NM_152505.4(LCA5L):c.1502G>C (p.Gly501Ala)	GET1, GET1-SH3BGR +1 more (G501A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323931	NM_152505.4(LCA5L):c.1470A>C (p.Arg490Ser)	GET1, GET1-SH3BGR +1 more (R360S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363296	NM_152505.4(LCA5L):c.1337G>C (p.Gly446Ala)	GET1, GET1-SH3BGR +1 more (G316A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118015	NM_152505.4(LCA5L):c.1258G>A (p.Glu420Lys)	GET1, GET1-SH3BGR +1 more (E420K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348509	NM_152505.4(LCA5L):c.1202A>G (p.Lys401Arg)	GET1, GET1-SH3BGR +1 more (K271R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410501	NM_152505.4(LCA5L):c.1193A>C (p.His398Pro)	GET1, GET1-SH3BGR +1 more (H398P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491128	NM_152505.4(LCA5L):c.1175C>T (p.Ala392Val)	GET1, GET1-SH3BGR +1 more (A262V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491127	NM_152505.4(LCA5L):c.1174G>A (p.Ala392Thr)	GET1, GET1-SH3BGR +1 more (A262T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345749	NM_152505.4(LCA5L):c.1151C>G (p.Pro384Arg)	GET1, GET1-SH3BGR +1 more (P254R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290233	NM_152505.4(LCA5L):c.1124A>G (p.Gln375Arg)	GET1, GET1-SH3BGR +1 more (Q245R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544118	NM_152505.4(LCA5L):c.994G>C (p.Glu332Gln)	GET1, GET1-SH3BGR +1 more (E332Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486853	NM_152505.4(LCA5L):c.974A>T (p.Lys325Met)	GET1, GET1-SH3BGR +1 more (K325M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338238	NM_152505.4(LCA5L):c.957C>A (p.His319Gln)	GET1, GET1-SH3BGR +1 more (H189Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118022	NM_152505.4(LCA5L):c.955C>T (p.His319Tyr)	GET1, GET1-SH3BGR +1 more (H189Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118021	NM_152505.4(LCA5L):c.806C>T (p.Thr269Ile)	GET1, GET1-SH3BGR +1 more (T139I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223237	NM_152505.4(LCA5L):c.784C>G (p.His262Asp)	GET1, GET1-SH3BGR +1 more (H262D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247460	NM_152505.4(LCA5L):c.764C>G (p.Ala255Gly)	GET1, GET1-SH3BGR +1 more (A125G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290234	NM_152505.4(LCA5L):c.743T>C (p.Leu248Pro)	GET1, GET1-SH3BGR +1 more (L118P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118020	NM_152505.4(LCA5L):c.676A>T (p.Arg226Trp)	GET1, GET1-SH3BGR +1 more (R226W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344186	NM_152505.4(LCA5L):c.632G>C (p.Arg211Thr)	GET1, GET1-SH3BGR +1 more (R211T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518507	NM_152505.4(LCA5L):c.545A>G (p.His182Arg)	GET1, GET1-SH3BGR +1 more (H52R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223454	NM_152505.4(LCA5L):c.425G>A (p.Arg142Gln)	GET1, GET1-SH3BGR +1 more (R12Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118019	NM_152505.4(LCA5L):c.293A>G (p.Tyr98Cys)	GET1, GET1-SH3BGR +1 more (Y98C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118018	NM_152505.4(LCA5L):c.290A>G (p.Lys97Arg)	GET1, GET1-SH3BGR +1 more (K97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559004	NM_152505.4(LCA5L):c.274G>C (p.Glu92Gln)	GET1, GET1-SH3BGR +1 more (E92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290232	NM_152505.4(LCA5L):c.198T>G (p.Asp66Glu)	GET1, GET1-SH3BGR +1 more (D66E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118017	NM_152505.4(LCA5L):c.160T>G (p.Ser54Ala)	GET1, GET1-SH3BGR +1 more (S54A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315412	NM_152505.4(LCA5L):c.118C>T (p.Arg40Trp)	GET1, GET1-SH3BGR +1 more (R40W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118014	NM_152505.4(LCA5L):c.101G>A (p.Gly34Asp)	GET1, GET1-SH3BGR +1 more (G34D)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 2515657	NM_152505.4(LCA5L):c.45C>A (p.Phe15Leu)	GET1, GET1-SH3BGR +1 more (F15L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258835	NM_152505.4(LCA5L):c.38A>C (p.Glu13Ala)	GET1, GET1-SH3BGR +1 more (E13A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic

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