ClinVar for MedGen (Select 443954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018825	NM_024105.4(ALG12):c.804G>A (p.Leu268=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 3017346	NM_024105.4(ALG12):c.1284A>G (p.Ala428=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 3013524	NM_024105.4(ALG12):c.480C>T (p.Ala160=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 3007745	NM_024105.4(ALG12):c.1050A>G (p.Gly350=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 3004356	NM_024105.4(ALG12):c.85C>T (p.Pro29Ser)	ALG12 (P29S)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2997454	NM_024105.4(ALG12):c.1176C>T (p.His392=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2995991	NM_024105.4(ALG12):c.163-8C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2994585	NM_024105.4(ALG12):c.222C>A (p.Ile74=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2985857	NM_024105.4(ALG12):c.1353G>C (p.Leu451=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2973684	NM_024105.4(ALG12):c.1326C>G (p.Ala442=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2973333	NM_024105.4(ALG12):c.471C>A (p.Val157=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2971254	NM_024105.4(ALG12):c.483C>T (p.Leu161=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2969742	NM_024105.4(ALG12):c.1163-20G>A	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2966854	NM_024105.4(ALG12):c.664+16_664+17del	ALG12	Microsatellite (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2964668	NM_024105.4(ALG12):c.1023C>T (p.Tyr341=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2914994	NM_024105.4(ALG12):c.571C>T (p.Leu191=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2911536	NM_024105.4(ALG12):c.222C>T (p.Ile74=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2910982	NM_024105.4(ALG12):c.411G>A (p.Gln137=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2903283	NM_024105.4(ALG12):c.1191C>T (p.Ala397=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2900502	NM_024105.4(ALG12):c.295+19A>G	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2894358	NM_024105.4(ALG12):c.1163-4C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2893404	NM_024105.4(ALG12):c.462G>T (p.Leu154=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2887827	NM_024105.4(ALG12):c.981C>T (p.Gly327=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2883502	NM_024105.4(ALG12):c.406A>G (p.Met136Val)	ALG12 (M136V)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GBenign
Select item 2875693	NM_024105.4(ALG12):c.105G>A (p.Glu35=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2873203	NM_024105.4(ALG12):c.363C>T (p.His121=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2871879	NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)	ALG12 (V395L)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2868430	NM_024105.4(ALG12):c.192C>A (p.Val64=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2863805	NM_024105.4(ALG12):c.665-20A>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2863474	NM_024105.4(ALG12):c.1272A>C (p.Thr424=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2855294	NM_024105.4(ALG12):c.162+10C>A	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2851378	NM_024105.4(ALG12):c.163-14C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2850367	NM_024105.4(ALG12):c.664+14T>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2843064	NM_024105.4(ALG12):c.992+10C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2839616	NM_024105.4(ALG12):c.21_33dup (p.Leu12fs)	ALG12 (L12fs)	Duplication (frameshift variant)	ALG12-congenital disorder of glycosylation	GPathogenic
Select item 2824299	NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)	ALG12 (Q54*)	Single nucleotide variant (nonsense)	ALG12-congenital disorder of glycosylation	GPathogenic
Select item 2813818	NM_024105.4(ALG12):c.1057G>C (p.Val353Leu)	ALG12 (V353L)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2811361	NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)	ALG12 (Y444H)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2810173	NM_024105.4(ALG12):c.441A>G (p.Thr147=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2805477	NM_024105.4(ALG12):c.417C>T (p.His139=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2803995	NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)	ALG12 (K336N)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2800239	NM_024105.4(ALG12):c.993-8T>G	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2798241	NM_024105.4(ALG12):c.986C>T (p.Ser329Phe)	ALG12 (S329F)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2797692	NM_024105.4(ALG12):c.333C>G (p.Leu111=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2796530	NM_024105.4(ALG12):c.462G>A (p.Leu154=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2795305	NM_024105.4(ALG12):c.1152C>T (p.Pro384=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2794057	NM_024105.4(ALG12):c.91A>G (p.Thr31Ala)	ALG12 (T31A)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2787805	NM_024105.4(ALG12):c.470-5T>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2782387	NM_024105.4(ALG12):c.378G>A (p.Val126=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2777749	NM_024105.4(ALG12):c.438G>A (p.Arg146=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2775904	NM_024105.4(ALG12):c.864G>T (p.Thr288=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2769264	NM_024105.4(ALG12):c.942C>T (p.Ile314=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2756835	NM_024105.4(ALG12):c.296-18G>A	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2754723	NM_024105.4(ALG12):c.633C>T (p.Arg211=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2744703	NM_024105.4(ALG12):c.768+14T>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2744669	NM_024105.4(ALG12):c.168C>T (p.Asp56=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2743072	NM_024105.4(ALG12):c.1404C>T (p.Pro468=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2734803	NM_024105.4(ALG12):c.731G>A (p.Trp244Ter)	ALG12 (W244*)	Single nucleotide variant (nonsense)	ALG12-congenital disorder of glycosylation	GPathogenic
Select item 2727956	NM_024105.4(ALG12):c.768+14T>G	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2725442	NM_024105.4(ALG12):c.474G>C (p.Leu158=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2725153	NM_024105.4(ALG12):c.450T>C (p.Asn150=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2715440	NM_024105.4(ALG12):c.318C>T (p.Gly106=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2697267	NM_024105.4(ALG12):c.698_699del (p.Arg233fs)	ALG12 (R233fs)	Deletion (frameshift variant)	ALG12-congenital disorder of glycosylation	GPathogenic
Select item 2696125	NM_024105.4(ALG12):c.1308G>T (p.Ala436=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2626751	NM_024105.4(ALG12):c.768+1dup	ALG12	Duplication (splice donor variant)	ALG12-congenital disorder of glycosylation	GLikely pathogenic
Select item 2428281	NM_024105.4(ALG12):c.338C>T (p.Thr113Met)	ALG12 (T113M)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2427897	NM_024105.4(ALG12):c.1083G>A (p.Thr361=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2426800	NC_000022.10:g.(?_50297486)_(50307413_?)del	ALG12	Deletion	ALG12-congenital disorder of glycosylation	GPathogenic
Select item 2421167	NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)	ALG12 (L443P)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2421110	NM_024105.4(ALG12):c.1171C>T (p.Leu391=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2420622	NM_024105.4(ALG12):c.1239-8T>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2416695	NM_024105.4(ALG12):c.1163-13C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2416658	NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)	ALG12 (P422A)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2413246	NM_024105.4(ALG12):c.1458G>A (p.Arg486=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2202860	NM_024105.4(ALG12):c.595T>C (p.Leu199=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2199981	NM_024105.4(ALG12):c.769-4G>A	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2198905	NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)	ALG12 (C274Y)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2198258	NM_024105.4(ALG12):c.875C>T (p.Thr292Met)	ALG12 (T292M)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2197116	NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln)	ALG12 (K342Q)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2195361	NM_024105.4(ALG12):c.769-5C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2195193	NM_024105.4(ALG12):c.774C>G (p.Ser258=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2189336	NM_024105.4(ALG12):c.664+1G>A	ALG12	Single nucleotide variant (splice donor variant)	ALG12-congenital disorder of glycosylation	GLikely pathogenic
Select item 2187729	NM_024105.4(ALG12):c.769-11C>G	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2184555	NM_024105.4(ALG12):c.201G>A (p.Thr67=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2184536	NM_024105.4(ALG12):c.1287C>T (p.Tyr429=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2183600	NM_024105.4(ALG12):c.294A>G (p.Ile98Met)	ALG12 (I98M)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2179499	NM_024105.4(ALG12):c.810C>T (p.Arg270=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2178685	NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)	ALG12 (R270C)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2171186	NM_024105.4(ALG12):c.469G>C (p.Val157Leu)	ALG12 (V157L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2168262	NM_024105.4(ALG12):c.665-11T>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2167367	NM_024105.4(ALG12):c.736A>C (p.Asn246His)	ALG12 (N246H)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2165780	NM_024105.4(ALG12):c.282C>T (p.Tyr94=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2162572	NM_024105.4(ALG12):c.470-14G>A	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2160927	NM_024105.4(ALG12):c.636C>T (p.His212=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2159172	NM_024105.4(ALG12):c.306G>C (p.Val102=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2158713	NM_024105.4(ALG12):c.249C>T (p.Tyr83=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2154959	NM_024105.4(ALG12):c.948C>G (p.Ala316=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2147395	NM_024105.4(ALG12):c.1238+12_1238+24del	ALG12	Deletion (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2145722	NM_024105.4(ALG12):c.295+6G>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2144322	NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)	ALG12 (V472I)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance

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