ClinVar for Gene (Select 2717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3362281	NM_000169.3(GLA):c.23T>A (p.Leu8Gln)	GLA (L8Q)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic
Select item 3355550	NM_000169.3(GLA):c.999+77del	GLA, RPL36A-HNRNPH2 (F359fs)	Deletion (frameshift variant +1 more)	GLA-related disorder	GLikely benign
Select item 3349096	NM_000169.3(GLA):c.-10C>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	GLA-related disorder	GLikely benign
Select item 3342849	NM_000169.3(GLA):c.640-394C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3340290	NM_000169.3(GLA):c.139T>C (p.Trp47Arg)	GLA, RPL36A-HNRNPH2 (W47R)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 3337148	NM_000169.3(GLA):c.394G>C (p.Gly132Arg)	GLA, RPL36A-HNRNPH2 (G132R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 3281501	NM_000169.3(GLA):c.825C>T (p.Leu275=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3281500	NM_000169.3(GLA):c.61C>G (p.Leu21Val)	GLA, RPL36A-HNRNPH2 (L21V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3281499	NM_000169.3(GLA):c.1237G>A (p.Val413Ile)	GLA, RPL36A-HNRNPH2 (V454I +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3281498	NM_000169.3(GLA):c.342T>A (p.Pro114=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3281497	NM_000169.3(GLA):c.54C>T (p.Phe18=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3281495	NM_000169.3(GLA):c.811G>T (p.Gly271Cys)	GLA, RPL36A-HNRNPH2 (G271C +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 3250488	NM_000169.3(GLA):c.837_839del (p.Gln280del)	GLA, RPL36A-HNRNPH2 (Q280del +1 more)	Deletion (inframe_deletion +2 more)	Fabry disease	GLikely pathogenic
Select item 3248613	NM_000169.3(GLA):c.781G>T (p.Gly261Cys)	GLA, RPL36A-HNRNPH2 (G261C +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 3246507	NC_000023.10:g.(?_100486637)_(100662891_?)del	TAF7L, BTK +5 more	Deletion	not provided	GPathogenic
Select item 3243715	NC_000023.10:g.(?_100604873)_(100667593_?)del	HNRNPH2, BTK +3 more	Deletion	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235259	NM_000169.3(GLA):c.1145G>C (p.Cys382Ser)	GLA, RPL36A-HNRNPH2 (C382S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 3233531	NM_000169.3(GLA):c.369+12_369+15del	GLA, RPL36A-HNRNPH2	Deletion (intron variant)	not specified	GLikely benign
Select item 3230482	NM_000169.3(GLA):c.5A>T (p.Gln2Leu)	GLA, RPL36A-HNRNPH2 (Q2L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3230481	NM_000169.3(GLA):c.558C>T (p.His186=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3075068	NM_000169.3(GLA):c.44C>T (p.Ala15Val)	GLA, RPL36A-HNRNPH2 (A15V)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3075025	NM_000169.3(GLA):c.228G>A (p.Met76Ile)	GLA, RPL36A-HNRNPH2 (M117I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3074947	NM_000169.3(GLA):c.74A>G (p.Asp25Gly)	GLA, RPL36A-HNRNPH2 (D25G)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3074904	NM_000169.3(GLA):c.1165C>G (p.Pro389Ala)	GLA, RPL36A-HNRNPH2 (P389A +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 3074286	NM_000169.3(GLA):c.377G>T (p.Ser126Ile)	RPL36A-HNRNPH2, GLA (S126I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3074042	NM_000169.3(GLA):c.802-14A>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GUncertain significance
Select item 3074035	NM_000169.3(GLA):c.260A>T (p.Glu87Val)	GLA, RPL36A-HNRNPH2 (E128V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3074000	NM_000169.3(GLA):c.852G>A (p.Met284Ile)	GLA, RPL36A-HNRNPH2 (M284I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3073767	NM_000169.3(GLA):c.388A>C (p.Lys130Gln)	GLA, RPL36A-HNRNPH2 (K130Q +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3073744	NM_000169.3(GLA):c.1001G>A (p.Gly334Glu)	GLA, RPL36A-HNRNPH2 (G334E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3073449	NM_000169.3(GLA):c.913C>T (p.Pro305Ser)	GLA, RPL36A-HNRNPH2 (P305S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3073446	NM_000169.3(GLA):c.19G>C (p.Glu7Gln)	GLA, RPL36A-HNRNPH2 (E7Q)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3072553	NM_000169.3(GLA):c.305C>T (p.Ser102Leu)	GLA, RPL36A-HNRNPH2 (S102L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3072446	NM_000169.3(GLA):c.543A>G (p.Ala181=)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3071842	NM_000169.3(GLA):c.1164C>T (p.Leu388=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GUncertain significance
Select item 3071747	NM_000169.3(GLA):c.455A>T (p.Tyr152Phe)	GLA, RPL36A-HNRNPH2 (Y152F +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3071623	NM_000169.3(GLA):c.972G>A (p.Leu324=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3071383	NM_000169.3(GLA):c.493G>A (p.Asp165Asn)	GLA, RPL36A-HNRNPH2 (D165N +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3070692	NM_000169.3(GLA):c.357G>T (p.Gln119His)	GLA, RPL36A-HNRNPH2 (Q119H +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3070228	NM_000169.3(GLA):c.-1A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	Fabry disease	GUncertain significance
Select item 3069897	NM_000169.3(GLA):c.78C>T (p.Ile26=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3069626	NM_000169.3(GLA):c.595G>T (p.Val199Leu)	GLA, RPL36A-HNRNPH2 (V199L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3069453	NM_000169.3(GLA):c.848A>G (p.Gln283Arg)	GLA, RPL36A-HNRNPH2 (Q283R +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3062523	GRCh37/hg19 Xq22.1(chrX:100439132-100918059)	ARMCX1, ARMCX2 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3062165	NM_000169.3(GLA):c.311G>A (p.Gly104Asp)	GLA, RPL36A-HNRNPH2 (G104D +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GBenign
Select item 3061400	NM_000169.3(GLA):c.994del (p.Arg332fs)	GLA, RPL36A-HNRNPH2 (R332fs +1 more)	Deletion (frameshift variant +2 more)	GLA-related disorder	GLikely pathogenic
Select item 3053116	NM_000169.3(GLA):c.802-102G>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3050211	NC_000023.11:g.101391265G>A	GLA, RPL36A +1 more	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3048977	NC_000023.11:g.101391167A>G	GLA, RPL36A +1 more	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3048387	NC_000023.11:g.101397753A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3040732	NC_000023.11:g.101391195C>T	GLA, RPL36A +1 more	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3035095	NM_000169.3(GLA):c.-9A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	GLA-related disorder	GLikely benign
Select item 3031516	NC_000023.11:g.101391216G>A	GLA, RPL36A +1 more	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3030728	NC_000023.11:g.101397714T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	GLA-related disorder	GLikely benign
Select item 3030508	NM_001199973.2(RPL36A-HNRNPH2):c.300+6148G>A	GLA, RPL36A-HNRNPH2 (H233Y)	Single nucleotide variant (missense variant +1 more)	RPL36A-HNRNPH2-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3024127	NM_000169.3(GLA):c.195-89_712del	RPL36A-HNRNPH2, GLA	Deletion (intron variant +2 more)	Fabry disease	GLikely pathogenic
Select item 3019923	NM_000169.3(GLA):c.801+11G>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 3018194	NM_000169.3(GLA):c.540G>A (p.Leu180=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3014262	NM_000169.3(GLA):c.873T>C (p.Ala291=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2998568	NM_000169.3(GLA):c.1000-18_1000-17del	GLA, RPL36A-HNRNPH2	Microsatellite (intron variant)	Fabry disease	GLikely benign
Select item 2994922	NM_000169.3(GLA):c.369+11A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2994921	NM_000169.3(GLA):c.6G>C (p.Gln2His)	GLA, RPL36A-HNRNPH2 (Q2H)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2986762	NM_000169.3(GLA):c.194+15G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2973008	NM_000169.3(GLA):c.1231G>A (p.Gly411Ser)	GLA, RPL36A-HNRNPH2 (G411S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2955061	NM_000169.3(GLA):c.640-19G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2920257	NM_000169.3(GLA):c.732C>G (p.Asp244Glu)	GLA, RPL36A-HNRNPH2 (D244E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2917908	NM_000169.3(GLA):c.639+15C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2911161	NM_000169.3(GLA):c.640-811_640-798del	GLA, RPL36A-HNRNPH2	Deletion (non-coding transcript variant +1 more)	Fabry disease	GLikely benign
Select item 2907592	NM_000169.3(GLA):c.564del (p.Leu189fs)	GLA, RPL36A-HNRNPH2 (L189fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease	GPathogenic
Select item 2907591	NM_000169.3(GLA):c.1016T>A (p.Val339Glu)	GLA, RPL36A-HNRNPH2 (V380E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2905800	NM_000169.3(GLA):c.690T>C (p.Ala230=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2903873	NM_000169.3(GLA):c.801+9T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2900810	NM_000169.3(GLA):c.307G>A (p.Glu103Lys)	GLA, RPL36A-HNRNPH2 (E103K +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2899016	NM_000169.3(GLA):c.600C>T (p.Tyr200=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2894898	NM_000169.3(GLA):c.650C>T (p.Thr217Ile)	GLA, RPL36A-HNRNPH2 (T217I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2893330	NM_000169.3(GLA):c.640-16A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2882658	NM_000169.3(GLA):c.548-16T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2881609	NM_000169.3(GLA):c.548-14G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2870511	NM_000169.3(GLA):c.133C>G (p.Leu45Val)	GLA, RPL36A-HNRNPH2 (L45V)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2860290	NM_000169.3(GLA):c.780G>A (p.Gly260=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GUncertain significance
Select item 2859783	NM_000169.3(GLA):c.370-9T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2858994	NM_000169.3(GLA):c.1139C>T (p.Pro380Leu)	GLA, RPL36A-HNRNPH2 (P421L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2857303	NM_000169.3(GLA):c.918A>G (p.Gln306=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2850229	NM_000169.3(GLA):c.547+9T>A	GLA, RPL36A-HNRNPH2 (S227T)	Single nucleotide variant (missense variant +1 more)	Fabry disease	GLikely benign
Select item 2848406	NM_000169.3(GLA):c.370-12C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2846239	NM_000169.3(GLA):c.195-8T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2845233	NM_000169.3(GLA):c.801+7dup	GLA, RPL36A-HNRNPH2	Duplication (intron variant)	Fabry disease	GBenign
Select item 2844176	NM_000169.3(GLA):c.385C>A (p.Leu129Met)	GLA, RPL36A-HNRNPH2 (L129M +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2842807	NM_000169.3(GLA):c.720G>A (p.Lys240=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2840792	NM_000169.3(GLA):c.926C>G (p.Ala309Gly)	GLA, RPL36A-HNRNPH2 (A350G +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2840457	NM_000169.3(GLA):c.271A>C (p.Ile91Leu)	GLA, RPL36A-HNRNPH2 (I132L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2839887	NM_000169.3(GLA):c.801+13G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2839468	NM_000169.3(GLA):c.1142C>T (p.Ala381Val)	GLA, RPL36A-HNRNPH2 (A422V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2837282	NM_000169.3(GLA):c.901del (p.Arg301fs)	GLA, RPL36A-HNRNPH2 (R342fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease	GPathogenic
Select item 2835796	NM_000169.3(GLA):c.570C>A (p.Ala190=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant +2 more)	Fabry disease	GLikely benign
Select item 2831411	NM_000169.3(GLA):c.547+17G>C	GLA, RPL36A-HNRNPH2 (Q229H)	Single nucleotide variant (missense variant +1 more)	Fabry disease	GLikely benign

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