"Ambry Genetics"[submitter] AND "GLUD1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281668	NM_005271.5(GLUD1):c.1622A>T (p.Asn541Ile)	GLUD1 (N374I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231080	NM_005271.5(GLUD1):c.1605A>T (p.Arg535Ser)	GLUD1 (R402S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 968471	NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)	GLUD1 (R523H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1775119	NM_005271.5(GLUD1):c.1554C>G (p.Ala518=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2450847	NM_005271.5(GLUD1):c.1518G>A (p.Val506=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 880412	NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 129163	NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)	GLUD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3281669	NM_005271.5(GLUD1):c.1469C>T (p.Thr490Met)	GLUD1 (T357M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770590	NM_005271.5(GLUD1):c.1350C>T (p.Ser450=)	GLUD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3281666	NM_005271.5(GLUD1):c.1308A>G (p.Thr436=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1757730	NM_005271.5(GLUD1):c.1239T>A (p.Ala413=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3100387	NM_005271.5(GLUD1):c.1202T>C (p.Ile401Thr)	GLUD1 (I234T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435340	NM_005271.5(GLUD1):c.1123G>A (p.Asp375Asn)	GLUD1 (D375N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2218949	NM_005271.5(GLUD1):c.1109G>A (p.Ser370Asn)	GLUD1 (S237N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803144	NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)	GLUD1 (S190F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2061466	NM_005271.5(GLUD1):c.962A>G (p.His321Arg)	GLUD1 (H154R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3100388	NM_005271.5(GLUD1):c.949A>G (p.Met317Val)	GLUD1 (M317V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 533801	NM_005271.5(GLUD1):c.909A>C (p.Thr303=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 513945	NM_005271.5(GLUD1):c.771T>C (p.Gly257=)	GLUD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1759569	NM_005271.5(GLUD1):c.756C>T (p.His252=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1759005	NM_005271.5(GLUD1):c.745A>G (p.Ile249Val)	GLUD1 (I82V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1755111	NM_005271.5(GLUD1):c.672A>G (p.Pro224=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 848715	NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)	GLUD1 (K212R +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 301397	NM_005271.5(GLUD1):c.630A>G (p.Ala210=)	GLUD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 585938	NM_005271.5(GLUD1):c.585T>C (p.Asp195=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome +2 more	GBenign/Likely benign
Select item 2211907	NM_005271.5(GLUD1):c.578A>G (p.Tyr193Cys)	GLUD1 (Y193C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785322	NM_005271.5(GLUD1):c.393C>G (p.Val131=)	GLUD1, LOC130004254	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2604140	NM_005271.5(GLUD1):c.325A>T (p.Ile109Phe)	GLUD1 (I109F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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

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Items: 42