"Ambry Genetics"[submitter] AND "GET1-SH3BGR"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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: 44