ClinVar for Gene (Select 427) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336358	NC_000008.10:g.(?_17913500)_(17941617_?)dup	ASAH1	Duplication	not specified	GUncertain significance
Select item 3316929	NM_177924.5(ASAH1):c.647C>T (p.Pro216Leu)	ASAH1 (P210L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316919	NM_177924.5(ASAH1):c.353G>T (p.Gly118Val)	ASAH1 (G118V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316913	NM_177924.5(ASAH1):c.127T>A (p.Tyr43Asn)	ASAH1 (Y59N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3316912	NM_177924.5(ASAH1):c.949G>T (p.Val317Leu)	ASAH1 (V252L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316908	NM_177924.5(ASAH1):c.1079C>G (p.Thr360Arg)	ASAH1 (T295R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245615	NC_000008.10:g.(?_17928789)_(17941567_?)dup	ASAH1	Duplication	not provided	GUncertain significance
Select item 3245614	NC_000008.10:g.(?_17915043)_(17924827_?)del	ASAH1	Deletion	not provided	GPathogenic
Select item 3245612	NC_000008.10:g.(?_17924709)_(17924827_?)del	ASAH1	Deletion	not provided	GPathogenic
Select item 3245611	NC_000008.10:g.(?_17915043)_(17941567_?)del	ASAH1	Deletion	not provided	GPathogenic
Select item 3245556	NC_000008.10:g.(?_17915043)_(20112692_?)del	ASAH1, ASAH1-AS1 +10 more	Deletion	not provided	GPathogenic
Select item 3234094	NM_177924.5(ASAH1):c.375_379del (p.Pro126fs)	ASAH1 (P120fs +3 more)	Deletion (frameshift variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 3130023	NM_177924.5(ASAH1):c.782C>T (p.Thr261Ile)	ASAH1 (T261I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130022	NM_177924.5(ASAH1):c.1031C>G (p.Thr344Ser)	ASAH1 (T338S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067866	NM_177924.5(ASAH1):c.457G>C (p.Gly153Arg)	ASAH1 (G147R +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 3067841	NM_177924.5(ASAH1):c.786-1G>T	ASAH1	Single nucleotide variant (splice acceptor variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 3066142	NM_177924.5(ASAH1):c.704G>T (p.Gly235Val)	ASAH1 (G170V +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3054454	NM_177924.5(ASAH1):c.-5G>A	ASAH1, LOC129999940	Single nucleotide variant (5 prime UTR variant +1 more)	ASAH1-related disorders	GLikely benign
Select item 3032090	NM_177924.5(ASAH1):c.126-1894T>C	ASAH1	Single nucleotide variant (intron variant)	ASAH1-related disorders	GLikely benign
Select item 3031296	NM_004315.6(ASAH1):c.12C>T (p.Cys4=)	ASAH1	Single nucleotide variant (synonymous variant)	ASAH1-related disorders	GLikely benign
Select item 3018877	NM_177924.5(ASAH1):c.561G>C (p.Val187=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018382	NM_177924.5(ASAH1):c.785+11T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017668	NM_177924.5(ASAH1):c.126-12C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017484	NM_177924.5(ASAH1):c.78+7G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016399	NM_177924.5(ASAH1):c.216+13G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014094	NM_177924.5(ASAH1):c.383-1G>C	ASAH1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3007666	NM_177924.5(ASAH1):c.1133A>T (p.Lys378Ile)	ASAH1 (K313I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3005818	NM_177924.5(ASAH1):c.704-11A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005210	NM_177924.5(ASAH1):c.867G>T (p.Gly289=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989007	NM_177924.5(ASAH1):c.1041+11A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987722	NM_177924.5(ASAH1):c.78+17C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975403	NM_177924.5(ASAH1):c.1102A>G (p.Thr368Ala)	ASAH1 (T368A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969915	NM_177924.5(ASAH1):c.33C>G (p.Leu11=)	ASAH1, LOC129999940	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966434	NM_177924.5(ASAH1):c.24C>T (p.Ala8=)	ASAH1, LOC129999940	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959040	NM_177924.5(ASAH1):c.458-11C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957924	NM_177924.5(ASAH1):c.564T>C (p.Asn188=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955075	NM_177924.5(ASAH1):c.150C>T (p.Tyr50=)	ASAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2918563	NM_177924.5(ASAH1):c.864T>G (p.Ser288=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916971	NM_177924.5(ASAH1):c.1041+15T>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916010	NM_177924.5(ASAH1):c.704-15_704-14del	ASAH1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2913835	NM_177924.5(ASAH1):c.1_2delinsCG (p.Met1Arg)	ASAH1, LOC129999940 (M1R)	Indel (missense variant +2 more)	not provided	GPathogenic
Select item 2911934	NM_177924.5(ASAH1):c.759T>C (p.Thr253=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910865	NM_177924.5(ASAH1):c.525C>G (p.Thr175=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903402	NM_177924.5(ASAH1):c.303+11T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895402	NM_177924.5(ASAH1):c.1086T>C (p.Pro362=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890679	NM_177924.5(ASAH1):c.697T>C (p.Tyr233His)	ASAH1 (Y168H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886089	NM_177924.5(ASAH1):c.918-16C>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883651	NM_177924.5(ASAH1):c.41C>T (p.Ala14Val)	ASAH1 (A14V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878238	NM_177924.5(ASAH1):c.648+12G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877514	NM_177924.5(ASAH1):c.216+13G>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874701	NM_177924.5(ASAH1):c.503+13C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871497	NM_177924.5(ASAH1):c.885A>C (p.Thr295=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860985	NM_177924.5(ASAH1):c.1182T>G (p.Gly394=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858589	NM_177924.5(ASAH1):c.213_214delinsGA (p.Val72Met)	ASAH1 (V72M +3 more)	Indel (missense variant)	not provided	GLikely benign
Select item 2857618	NM_177924.5(ASAH1):c.1031C>T (p.Thr344Ile)	ASAH1 (T360I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855734	NM_177924.5(ASAH1):c.340G>T (p.Glu114Ter)	ASAH1 (E49* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2854868	NM_177924.5(ASAH1):c.310C>T (p.Leu104=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854363	NM_177924.5(ASAH1):c.216+18A>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849912	NM_177924.5(ASAH1):c.965A>T (p.Asp322Val)	ASAH1 (D257V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849911	NM_177924.5(ASAH1):c.1041+1G>T	ASAH1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2844429	NM_177924.5(ASAH1):c.937A>C (p.Arg313=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841015	NM_177924.5(ASAH1):c.648+15G>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835450	NM_177924.5(ASAH1):c.846C>T (p.Ile282=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831638	NM_177924.5(ASAH1):c.342G>A (p.Glu114=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830251	NM_177924.5(ASAH1):c.33C>A (p.Leu11=)	ASAH1, LOC129999940	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2828223	NM_177924.5(ASAH1):c.786-18T>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826778	NM_177924.5(ASAH1):c.1042-2A>C	ASAH1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2825841	NM_177924.5(ASAH1):c.457+1G>A	ASAH1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2824547	NM_177924.5(ASAH1):c.917+2T>G	ASAH1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2811126	NM_177924.5(ASAH1):c.849G>C (p.Leu283=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810827	NM_177924.5(ASAH1):c.649-2A>T	ASAH1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2810021	NM_177924.5(ASAH1):c.1099-17A>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809228	NM_177924.5(ASAH1):c.649-13G>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808594	NM_177924.5(ASAH1):c.330C>A (p.Gly110=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808223	NM_177924.5(ASAH1):c.382+9C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800606	NM_177924.5(ASAH1):c.383-5C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793281	NM_177924.5(ASAH1):c.193T>C (p.Leu65=)	ASAH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2792236	NM_177924.5(ASAH1):c.382+18G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789998	NM_177924.5(ASAH1):c.1042-18T>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776942	NM_177924.5(ASAH1):c.126-10C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770814	NM_177924.5(ASAH1):c.1042_1045del (p.Asn348fs)	ASAH1 (N364fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2769646	NM_177924.5(ASAH1):c.918-20A>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766849	NM_177924.5(ASAH1):c.785+10T>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759474	NM_177924.5(ASAH1):c.457+17G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743733	NM_177924.5(ASAH1):c.53dup (p.Cys18fs)	ASAH1 (C18fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2739560	NM_177924.5(ASAH1):c.10C>A (p.Arg4=)	ASAH1, LOC129999940	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2730147	NM_177924.5(ASAH1):c.217-18A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2726497	NM_177924.5(ASAH1):c.918-4C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724405	NM_177924.5(ASAH1):c.653T>C (p.Leu218Pro)	ASAH1 (L153P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718338	NM_177924.5(ASAH1):c.669G>A (p.Leu223=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710562	NM_177924.5(ASAH1):c.906G>A (p.Leu302=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709767	NM_177924.5(ASAH1):c.1050A>T (p.Ser350=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703280	NM_177924.5(ASAH1):c.504-9C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703279	NM_177924.5(ASAH1):c.744G>A (p.Trp248Ter)	ASAH1 (W242* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2700769	NM_177924.5(ASAH1):c.633A>G (p.Leu211=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699171	NM_177924.5(ASAH1):c.457+9G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696993	NM_177924.5(ASAH1):c.918-8G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696690	NM_177924.5(ASAH1):c.621T>A (p.Tyr207Ter)	ASAH1 (Y223* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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