"Ambry Genetics"[submitter] AND "SHLD2"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1795530	NM_005271.5(GLUD1):c.274C>T (p.Arg92Trp)	GLUD1, SHLD2 (R92W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1787051	NM_005271.5(GLUD1):c.216C>G (p.Gly72=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2585940	NM_005271.5(GLUD1):c.210G>A (p.Val70=)	SHLD2, GLUD1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 585937	NM_005271.5(GLUD1):c.195C>T (p.Asn65=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome +2 more	GLikely benign
Select item 2270320	NM_005271.5(GLUD1):c.187G>C (p.Asp63His)	GLUD1, SHLD2 (D63H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270319	NM_005271.5(GLUD1):c.186C>G (p.Asp62Glu)	GLUD1, SHLD2 (D62E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1779948	NM_005271.5(GLUD1):c.177C>T (p.Asp59=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2394561	NM_005271.5(GLUD1):c.125A>C (p.Gln42Pro)	GLUD1, LOC130004255 +1 more (Q42P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1935562	NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)	GLUD1, LOC130004255 +1 more (Q36R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1112781	NM_005271.5(GLUD1):c.102G>C (p.Arg34=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2301890	NM_005271.5(GLUD1):c.100C>G (p.Arg34Gly)	GLUD1, LOC130004255 +1 more (R34G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2450846	NM_005271.5(GLUD1):c.87G>T (p.Leu29Phe)	GLUD1, LOC130004255 +1 more (L29F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243210	NM_005271.5(GLUD1):c.73G>T (p.Asp25Tyr)	GLUD1, LOC130004255 +1 more (D25Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281667	NM_005271.5(GLUD1):c.25C>T (p.Leu9=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3161808	NM_001330112.2(SHLD2):c.11G>A (p.Gly4Glu)	SHLD2 (G4E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161823	NM_001330112.2(SHLD2):c.277G>T (p.Val93Leu)	SHLD2 (V93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318327	NM_001330112.2(SHLD2):c.304A>G (p.Ile102Val)	SHLD2 (I102V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510242	NM_001330112.2(SHLD2):c.353C>G (p.Ser118Cys)	SHLD2 (S118C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318326	NM_001330112.2(SHLD2):c.371G>C (p.Gly124Ala)	SHLD2 (G124A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161824	NM_001330112.2(SHLD2):c.383C>T (p.Thr128Ile)	SHLD2 (T128I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161825	NM_001330112.2(SHLD2):c.388C>T (p.Pro130Ser)	SHLD2 (P11S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161826	NM_001330112.2(SHLD2):c.476G>A (p.Cys159Tyr)	SHLD2 (C159Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527107	NM_001330112.2(SHLD2):c.478G>C (p.Gly160Arg)	SHLD2 (D160H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161827	NM_001330112.2(SHLD2):c.661A>G (p.Lys221Glu)	SHLD2 (K221E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161828	NM_001330112.2(SHLD2):c.673G>A (p.Glu225Lys)	SHLD2 (E225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457155	NM_001330112.2(SHLD2):c.763G>A (p.Ala255Thr)	SHLD2 (A255T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161829	NM_001330112.2(SHLD2):c.808G>A (p.Val270Ile)	SHLD2 (V270I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2599300	NM_001330112.2(SHLD2):c.835A>G (p.Ser279Gly)	SHLD2 (S279G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511269	NM_001330112.2(SHLD2):c.836G>A (p.Ser279Asn)	SHLD2 (S279N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161830	NM_001330112.2(SHLD2):c.838T>G (p.Tyr280Asp)	SHLD2 (Y280D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161831	NM_001330112.2(SHLD2):c.841G>A (p.Gly281Arg)	SHLD2 (G281R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466344	NM_001330112.2(SHLD2):c.848T>C (p.Ile283Thr)	SHLD2 (I283T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161833	NM_001330112.2(SHLD2):c.905G>A (p.Ser302Asn)	SHLD2 (S302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161834	NM_001330112.2(SHLD2):c.983A>G (p.Asn328Ser)	SHLD2 (N328S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608099	NM_001330112.2(SHLD2):c.1057G>A (p.Glu353Lys)	SHLD2 (E353K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509896	NM_001330112.2(SHLD2):c.1058A>G (p.Glu353Gly)	SHLD2 (E353G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161805	NM_001330112.2(SHLD2):c.1087A>G (p.Ile363Val)	SHLD2 (I363V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495692	NM_001330112.2(SHLD2):c.1111T>C (p.Phe371Leu)	SHLD2 (F371L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161806	NM_001330112.2(SHLD2):c.1189C>G (p.Gln397Glu)	SHLD2 (Q397E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161807	NM_001330112.2(SHLD2):c.1192G>C (p.Val398Leu)	SHLD2 (V398L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161809	NM_001330112.2(SHLD2):c.1217C>G (p.Ser406Cys)	SHLD2 (S406C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161810	NM_001330112.2(SHLD2):c.1220A>G (p.Asn407Ser)	SHLD2 (N407S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161811	NM_001330112.2(SHLD2):c.1316G>T (p.Ser439Ile)	SHLD2 (S439I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161812	NM_001330112.2(SHLD2):c.1523C>T (p.Thr508Ile)	SHLD2 (T508I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459017	NM_001330112.2(SHLD2):c.1527T>A (p.Asp509Glu)	SHLD2 (N557K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318328	NM_001330112.2(SHLD2):c.1559A>C (p.Glu520Ala)	SHLD2 (E171A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161813	NM_001330112.2(SHLD2):c.1577C>T (p.Thr526Ile)	SHLD2 (T177I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521688	NM_001330112.2(SHLD2):c.1597A>G (p.Asn533Asp)	SHLD2 (N184D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161814	NM_001330112.2(SHLD2):c.1660C>T (p.Leu554Phe)	SHLD2 (L518F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161815	NM_001330112.2(SHLD2):c.1718C>T (p.Pro573Leu)	SHLD2 (P105L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161816	NM_001330112.2(SHLD2):c.1787T>C (p.Val596Ala)	SHLD2 (V247A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161817	NM_001330112.2(SHLD2):c.1823T>C (p.Leu608Pro)	SHLD2 (L140P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161818	NM_001330112.2(SHLD2):c.2188G>A (p.Ala730Thr)	SHLD2 (A262T +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161819	NM_001330112.2(SHLD2):c.2228A>G (p.Gln743Arg)	SHLD2 (Q325R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161820	NM_001330112.2(SHLD2):c.2252G>A (p.Ser751Asn)	SHLD2 (S283N +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522214	NM_001330112.2(SHLD2):c.2260A>G (p.Lys754Glu)	SHLD2 (K737E +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547083	NM_001330112.2(SHLD2):c.2446C>T (p.Arg816Cys)	SHLD2 (R398C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594474	NM_001330112.2(SHLD2):c.2563C>T (p.His855Tyr)	SHLD2 (H437Y +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161821	NM_001330112.2(SHLD2):c.2567C>G (p.Ser856Cys)	SHLD2 (S388C +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558596	NM_001330112.2(SHLD2):c.2584G>A (p.Ala862Thr)	SHLD2 (A394T +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161822	NM_001330112.2(SHLD2):c.2693A>T (p.His898Leu)	SHLD2 (H549L +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 61