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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2950266	NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2950153	NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)	DPAGT1, LOC126861360 (S57F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2947692	NM_001382.4(DPAGT1):c.162-12G>A	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2946610	NM_001382.4(DPAGT1):c.161+16C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +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	NM_001290474.2(C2CD2L):c.334G>A (p.Glu112Lys)	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)	DPAGT1-congenital disorder of glycosylation +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=)	LOC126861360, DPAGT1	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)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2073421	NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)	DPAGT1, LOC126861360 (L41V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +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)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1997947	NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)	DPAGT1, LOC126861360 (S5W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +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)	DPAGT1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 1614208	NM_001382.4(DPAGT1):c.216C>T (p.Cys72=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1597892	NM_001382.4(DPAGT1):c.162-20C>G	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1585440	NM_001382.4(DPAGT1):c.162-20C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 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)	LOC126861360, DPAGT1 (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)	LOC126861360, DPAGT1 (W2*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 13 +1 more	GPathogenic
Select item 1428959	NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu)	DPAGT1, LOC126861360 (Q86L)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1384242	NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr)	DPAGT1, LOC126861360 (C72Y)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +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=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +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)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1001621	NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)	DPAGT1, LOC126861360 (S5L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +2 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)	Congenital myasthenic syndrome 13 +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)	Congenital myasthenic syndrome 13 +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)	Congenital myasthenic syndrome 13 +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)	Congenital myasthenic syndrome 13 +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=)	LOC126861360, DPAGT1	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)	DPAGT1-congenital disorder of glycosylation +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 71