Related gene-specific medical variations for Gene (Select 54537) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374893	NM_005271.5(GLUD1):c.241G>A (p.Val81Met)	GLUD1, SHLD2 (V81M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3364120	NM_005271.5(GLUD1):c.2T>C (p.Met1Thr)	GLUD1, SHLD2 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 3250641	NM_005271.5(GLUD1):c.161G>A (p.Ser54Asn)	GLUD1, SHLD2 (S54N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3018484	NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)	GLUD1, SHLD2 (E71A)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 3015671	NM_005271.5(GLUD1):c.174C>A (p.Ala58=)	SHLD2, GLUD1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 3014326	NM_005271.5(GLUD1):c.78G>A (p.Ser26=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2840991	NM_005271.5(GLUD1):c.108G>A (p.Gln36=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2787339	NM_005271.5(GLUD1):c.273C>T (p.Thr91=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	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 2580087	NM_005271.5(GLUD1):c.271A>T (p.Thr91Ser)	GLUD1, SHLD2 (T91S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 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 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 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 2169324	NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)	GLUD1, SHLD2 (R60S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2168245	NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)	GLUD1, SHLD2 (D83N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2164734	NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)	GLUD1, LOC130004255 +1 more (A18V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2101422	NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)	GLUD1, LOC130004255 +1 more	Deletion (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2037106	NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)	GLUD1, LOC130004255 +1 more (R13W)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1943344	NM_005271.5(GLUD1):c.297G>C (p.Arg99=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
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 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 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 1722022	NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)	GLUD1, SHLD2 (K68R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1534438	NM_005271.5(GLUD1):c.168G>A (p.Ala56=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1342359	NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)	GLUD1, SHLD2 (I80M)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1336683	NM_005271.5(GLUD1):c.45G>A (p.Gly15=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1158886	NM_005271.5(GLUD1):c.133C>T (p.Leu45=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
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 1099454	NM_005271.5(GLUD1):c.48C>G (p.Pro16=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1010602	NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)	GLUD1, SHLD2 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 970685	NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)	GLUD1, LOC130004255 +1 more (A46T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 930939	NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)	GLUD1, SHLD2 (R76C)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878673	NM_005271.5(GLUD1):c.55C>T (p.Leu19=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 754882	NM_005271.5(GLUD1):c.228C>T (p.Arg76=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 752435	NM_005271.5(GLUD1):c.285G>A (p.Glu95=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 733062	NM_005271.5(GLUD1):c.129G>C (p.Pro43=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 724531	NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser)	GLUD1, SHLD2 (F67S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 715934	NM_005271.5(GLUD1):c.150G>C (p.Arg50=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 682380	NM_005271.5(GLUD1):c.-24C>G	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant)	not provided	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 301401	NM_005271.5(GLUD1):c.-44C>T	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 301400	NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu)	GLUD1, LOC130004255 +1 more (G35E)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome +2 more	GBenign/Likely benign
Select item 301399	NM_005271.5(GLUD1):c.154C>A (p.His52Asn)	GLUD1, SHLD2 (H52N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance

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Items: 48