Related gene-specific medical variations for Gene (Select 1798) - ClinVar

Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362429	NM_001382.4(DPAGT1):c.412A>C (p.Met138Leu)	DPAGT1 (M138L)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 3358927	NM_001382.4(DPAGT1):c.667T>G (p.Phe223Val)	DPAGT1 (F223V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 3273560	NM_001382.4(DPAGT1):c.248T>C (p.Val83Ala)	DPAGT1, LOC126861360 (V83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273559	NM_001382.4(DPAGT1):c.182T>G (p.Ile61Ser)	DPAGT1, LOC126861360 (I61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103762	NM_002105.3(H2AX):c.47A>G (p.Lys16Arg)	DPAGT1, H2AX (K16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103761	NM_002105.3(H2AX):c.426G>C (p.Glu142Asp)	DPAGT1, H2AX (E142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103760	NM_002105.3(H2AX):c.25G>A (p.Gly9Ser)	DPAGT1, H2AX (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2950266	NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2950153	NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)	DPAGT1, LOC126861360 (S57F)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2947692	NM_001382.4(DPAGT1):c.162-12G>A	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2946610	NM_001382.4(DPAGT1):c.161+16C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2944371	NM_001382.4(DPAGT1):c.79del (p.Thr27fs)	DPAGT1, LOC126861360 (T27fs)	Deletion (frameshift variant)	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 2926793	NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)	DPAGT1, LOC126861360 (H92D)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2926630	NM_001382.4(DPAGT1):c.161+9C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2926571	NM_001382.4(DPAGT1):c.162-18C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2924541	NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)	DPAGT1, LOC126861360 (P55A)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2923676	NM_001382.4(DPAGT1):c.282+12C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2642457	NC_000011.10:g.119108075G>A	C2CD2L, DPAGT1 (E112K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642456	NM_001382.4(DPAGT1):c.159G>A (p.Gln53=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637943	NM_001382.4(DPAGT1):c.858C>A (p.Phe286Leu)	DPAGT1 (F286L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13	GUncertain significance
Select item 2637942	NM_001382.4(DPAGT1):c.710G>T (p.Gly237Val)	DPAGT1 (G237V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13	GUncertain significance
Select item 2506955	NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)	DPAGT1, LOC126861360 (I54F)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2499561	NM_001382.4(DPAGT1):c.187G>A (p.Gly63Ser)	DPAGT1, LOC126861360 (G63S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441020	NM_001382.4(DPAGT1):c.853A>C (p.Asn285His)	DPAGT1 (N285H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203841	NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)	DPAGT1, LOC126861360 (V26I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2173325	NM_001382.4(DPAGT1):c.162-15G>A	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2143387	NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2115640	NM_001382.4(DPAGT1):c.161+13A>G	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2086535	NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)	DPAGT1, LOC126861360 (L41I)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2073421	NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)	DPAGT1, LOC126861360 (L41V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2027564	NM_001382.4(DPAGT1):c.282+20T>C	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2016004	NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)	DPAGT1, LOC126861360 (V26A)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1997947	NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)	DPAGT1, LOC126861360 (S5W)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1964476	NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)	DPAGT1, LOC126861360 (H35Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1958268	NM_001382.4(DPAGT1):c.162-12G>C	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1625348	NM_001382.4(DPAGT1):c.276C>T (p.His92=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1614208	NM_001382.4(DPAGT1):c.216C>T (p.Cys72=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1597892	NM_001382.4(DPAGT1):c.162-20C>G	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1585440	NM_001382.4(DPAGT1):c.162-20C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1577114	NM_001382.4(DPAGT1):c.162-18C>G	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1558489	NM_001382.4(DPAGT1):c.162-16T>C	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1516029	NM_001382.4(DPAGT1):c.277C>G (p.His93Asp)	DPAGT1, LOC126861360 (H93D)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1479048	NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys)	DPAGT1, LOC126861360 (E85K)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1475076	NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser)	DPAGT1, LOC126861360 (N14S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1460468	NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter)	DPAGT1, LOC126861360 (W2*)	Single nucleotide variant (nonsense)	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 1428959	NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu)	DPAGT1, LOC126861360 (Q86L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1384242	NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr)	DPAGT1, LOC126861360 (C72Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1305837	NM_001382.4(DPAGT1):c.141C>A (p.Asn47Lys)	DPAGT1, LOC126861360 (N47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160338	NM_001382.4(DPAGT1):c.282+17G>A	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1156851	NM_001382.4(DPAGT1):c.162-6C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1114305	NM_001382.4(DPAGT1):c.81C>G (p.Thr27=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1112490	NM_001382.4(DPAGT1):c.48C>T (p.Ile16=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1102674	NM_001382.4(DPAGT1):c.270C>T (p.Phe90=)	LOC126861360, DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +2 more	GLikely benign
Select item 1065832	NM_001382.4(DPAGT1):c.271C>T (p.Pro91Ser)	DPAGT1, LOC126861360 (P91S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13	GUncertain significance
Select item 1017431	NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg)	DPAGT1, LOC126861360 (G59R)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1001621	NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)	DPAGT1, LOC126861360 (S5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 996713	NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu)	DPAGT1, LOC126861360 (A39E)	Indel (missense variant)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 996710	NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr)	DPAGT1, LOC126861360 (M1T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 877296	NM_001382.4(DPAGT1):c.-76G>T	DPAGT1, LOC126861360	Single nucleotide variant (5 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 877295	NM_001382.4(DPAGT1):c.-39C>T	DPAGT1, LOC126861360	Single nucleotide variant (5 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 877294	NM_001382.4(DPAGT1):c.128G>T (p.Gly43Val)	DPAGT1, LOC126861360 (G43V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 844095	NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser)	DPAGT1, LOC126861360 (P30S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 793051	NM_001382.4(DPAGT1):c.162-4A>G	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 774546	NM_001382.4(DPAGT1):c.33G>A (p.Leu11=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 719364	NM_001382.4(DPAGT1):c.34C>T (p.Leu12=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 634577	NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)	DPAGT1, LOC126861360 (F66S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 567578	NM_001382.4(DPAGT1):c.26dup (p.Met9fs)	DPAGT1, LOC126861360 (M9fs)	Duplication (frameshift variant)	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 547938	NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)	DPAGT1, LOC126861360 (K84Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 540463	NM_001382.4(DPAGT1):c.161+6C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 386721	NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 381709	NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)	DPAGT1, LOC126861360 (M1L)	Single nucleotide variant (missense variant +1 more)	DPAGT1-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 302754	NM_001382.4(DPAGT1):c.-152C>T	DPAGT1, LOC126861360	Single nucleotide variant (5 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302753	NM_001382.4(DPAGT1):c.-46C>T	DPAGT1, LOC126861360	Single nucleotide variant (5 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302752	NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 302751	NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)	DPAGT1, LOC126861360 (C42Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 65470	NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)	DPAGT1, LOC126861360 (I29F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GPathogenic/Likely pathogenic
Select item 39774	NM_001382.4(DPAGT1):c.161+5G>A	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation	GPathogenic
Select item 39773	NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn)	DPAGT1, LOC126861360 (I69N)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation	GPathogenic

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Links from Gene

Items: 78