GET1-SH3BGR[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +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	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +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	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +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	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LOC130066733, LOC130066734 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	LOC130066625, LOC130066626 +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	AATBC, ABCG1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	LOC108281150, LOC110121385 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AGPAT3, AIRE +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	B3GALT5, B3GALT5-AS1 +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 2531263	NM_004627.6(GET1):c.266A>G (p.His89Arg)	GET1, GET1-SH3BGR (H89R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588774	NM_004627.6(GET1):c.299T>G (p.Ile100Arg)	GET1, GET1-SH3BGR (I66R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596033	NM_004627.6(GET1):c.391G>A (p.Val131Met)	GET1-SH3BGR, GET1 (V131M +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2326865	NM_152505.4(LCA5L):c.1985C>T (p.Thr662Ile)	GET1-SH3BGR, LCA5L +1 more (T532I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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-SH3BGR, GET1 +1 more (M599T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2338737	NM_152505.4(LCA5L):c.1541C>T (p.Thr514Met)	GET1-SH3BGR, LCA5L +1 more (T384M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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, LCA5L +1 more (G501A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323931	NM_152505.4(LCA5L):c.1470A>C (p.Arg490Ser)	LCA5L, GET1-SH3BGR +1 more (R360S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363296	NM_152505.4(LCA5L):c.1337G>C (p.Gly446Ala)	GET1-SH3BGR, GET1 +1 more (G316A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348509	NM_152505.4(LCA5L):c.1202A>G (p.Lys401Arg)	LCA5L, GET1 +1 more (K271R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410501	NM_152505.4(LCA5L):c.1193A>C (p.His398Pro)	LCA5L, GET1-SH3BGR +1 more (H398P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2345749	NM_152505.4(LCA5L):c.1151C>G (p.Pro384Arg)	GET1-SH3BGR, LCA5L +1 more (P254R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2338238	NM_152505.4(LCA5L):c.957C>A (p.His319Gln)	LCA5L, GET1 +1 more (H189Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2247460	NM_152505.4(LCA5L):c.764C>G (p.Ala255Gly)	GET1-SH3BGR, GET1 +1 more (A125G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344186	NM_152505.4(LCA5L):c.632G>C (p.Arg211Thr)	GET1-SH3BGR, LCA5L +1 more (R211T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2315412	NM_152505.4(LCA5L):c.118C>T (p.Arg40Trp)	GET1, LCA5L +1 more (R40W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2258835	NM_152505.4(LCA5L):c.38A>C (p.Glu13Ala)	GET1-SH3BGR, LCA5L +1 more (E13A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2464206	NM_007341.2(SH3BGR):c.47G>A (p.Arg16Gln)	GET1-SH3BGR, SH3BGR (R16Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332914	NM_007341.2(SH3BGR):c.55C>T (p.Arg19Trp)	GET1-SH3BGR, SH3BGR (R19W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302048	NM_007341.3(SH3BGR):c.-96C>G	GET1-SH3BGR, SH3BGR	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470063	NM_007341.3(SH3BGR):c.-9A>C	GET1-SH3BGR, SH3BGR	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527375	NM_007341.3(SH3BGR):c.44C>T (p.Ala15Val)	GET1-SH3BGR, SH3BGR (A15V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225174	NM_007341.3(SH3BGR):c.63A>T (p.Gln21His)	SH3BGR, GET1-SH3BGR (Q21H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2208478	NM_007341.3(SH3BGR):c.67G>A (p.Val23Ile)	GET1-SH3BGR, SH3BGR (V120I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2602939	NM_007341.3(SH3BGR):c.130G>A (p.Asp44Asn)	GET1-SH3BGR, SH3BGR (D44N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2306364	NM_007341.3(SH3BGR):c.301C>G (p.Pro101Ala)	SH3BGR, GET1-SH3BGR (P101A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609683	NM_007341.3(SH3BGR):c.320A>G (p.Glu107Gly)	GET1-SH3BGR, SH3BGR (E107G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2323900	NM_007341.3(SH3BGR):c.335G>A (p.Gly112Asp)	GET1-SH3BGR, SH3BGR (G112D +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2488716	NM_007341.3(SH3BGR):c.361G>A (p.Gly121Ser)	GET1-SH3BGR, SH3BGR (G218S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2404282	NM_007341.3(SH3BGR):c.451A>G (p.Met151Val)	GET1-SH3BGR, SH3BGR (M248V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2381000	NM_007341.3(SH3BGR):c.470A>C (p.Glu157Ala)	SH3BGR, GET1-SH3BGR (E109A +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 85