ClinVar for MedGen (Select 8083) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062165	NM_000169.3(GLA):c.311G>A (p.Gly104Asp)	GLA, RPL36A-HNRNPH2 (G104D)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GBenign
Select item 3024127	NM_000169.3(GLA):c.195-89_712del	GLA, RPL36A-HNRNPH2	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	Single nucleotide variant (intron variant)	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 (synonymous 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
Select item 2822701	NM_000169.3(GLA):c.176A>T (p.Glu59Val)	GLA, RPL36A-HNRNPH2 (E59V)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 2820983	NM_000169.3(GLA):c.999+18_999+22del	GLA, RPL36A-HNRNPH2	Deletion (nonsense +1 more)	Fabry disease	GLikely benign
Select item 2820603	NM_000169.3(GLA):c.370-9T>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2818685	NM_000169.3(GLA):c.1147_1149dup (p.Phe383_Ile384insPhe)	GLA, RPL36A-HNRNPH2	Duplication (inframe_insertion +2 more)	Fabry disease	GUncertain significance
Select item 2816778	NM_000169.3(GLA):c.798T>C (p.Asp266=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2812778	NM_000169.3(GLA):c.480T>A (p.Ala160=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2800322	NM_000169.3(GLA):c.195-16G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2788429	NM_000169.3(GLA):c.533A>G (p.Glu178Gly)	GLA, RPL36A-HNRNPH2 (E178G +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2783212	NM_000169.3(GLA):c.801+11G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2780557	NM_000169.3(GLA):c.840A>G (p.Gln280=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2773413	NM_000169.3(GLA):c.209T>C (p.Met70Thr)	GLA, RPL36A-HNRNPH2 (M70T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2773412	NM_000169.3(GLA):c.970T>G (p.Leu324Val)	GLA, RPL36A-HNRNPH2 (L324V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2772252	NM_000169.3(GLA):c.48T>C (p.Leu16=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2765189	NM_000169.3(GLA):c.195-9C>T	RPL36A-HNRNPH2, GLA	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2764028	NM_000169.3(GLA):c.39G>A (p.Ala13=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2757372	NM_000169.3(GLA):c.85G>C (p.Ala29Pro)	GLA, RPL36A-HNRNPH2 (A29P)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2757207	NM_000169.3(GLA):c.752A>G (p.Glu251Gly)	GLA, RPL36A-HNRNPH2 (E251G +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2753815	NM_000169.3(GLA):c.304del (p.Ser102fs)	GLA, RPL36A-HNRNPH2 (S102fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease	GPathogenic
Select item 2752223	NM_000169.3(GLA):c.1043C>A (p.Ala348Asp)	GLA, RPL36A-HNRNPH2 (A389D +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2750790	NM_000169.3(GLA):c.488del (p.Gly163fs)	GLA, RPL36A-HNRNPH2 (G163fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease	GPathogenic
Select item 2748978	NM_000169.3(GLA):c.285G>C (p.Trp95Cys)	GLA, RPL36A-HNRNPH2 (W95C +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2748478	NM_000169.3(GLA):c.819T>C (p.Phe273=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2746175	NM_000169.3(GLA):c.999+19T>C	GLA, RPL36A-HNRNPH2 (F340L)	Single nucleotide variant (missense variant +1 more)	Fabry disease	GLikely benign
Select item 2743220	NM_000169.3(GLA):c.195-13_195-12delinsGC	GLA, RPL36A-HNRNPH2	Indel (intron variant)	Fabry disease	GUncertain significance
Select item 2743219	NM_000169.3(GLA):c.195-8_195-3del	GLA, RPL36A-HNRNPH2	Deletion (intron variant)	Fabry disease	GLikely benign
Select item 2742850	NM_000169.3(GLA):c.1242G>A (p.Leu414=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2741009	NM_000169.3(GLA):c.640-14_640-13del	GLA, RPL36A-HNRNPH2	Microsatellite (intron variant)	Fabry disease	GLikely benign
Select item 2737820	NM_000169.3(GLA):c.369+15A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GBenign
Select item 2737320	NM_000169.3(GLA):c.194+1G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant +1 more)	Fabry disease	GPathogenic
Select item 2737318	NM_000169.3(GLA):c.514T>C (p.Cys172Arg)	GLA, RPL36A-HNRNPH2 (C172R +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic
Select item 2737317	NM_000169.3(GLA):c.640-859C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely pathogenic
Select item 2737315	NM_000169.3(GLA):c.809T>C (p.Ile270Thr)	GLA, RPL36A-HNRNPH2 (I270T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic
Select item 2737314	NM_000169.3(GLA):c.863C>A (p.Ala288Asp)	GLA, RPL36A-HNRNPH2 (A288D)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2737313	NM_000169.3(GLA):c.886A>T (p.Met296Leu)	GLA, RPL36A-HNRNPH2 (M296L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 2737312	NM_000169.3(GLA):c.908T>A (p.Ile303Asn)	GLA, RPL36A-HNRNPH2 (I344N +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 2737311	NM_000169.3(GLA):c.947dup (p.Ile317fs)	GLA, RPL36A-HNRNPH2 (I317fs)	Duplication (frameshift variant +2 more)	Fabry disease	GPathogenic
Select item 2737308	NM_000169.3(GLA):c.1166C>G (p.Pro389Arg)	GLA, RPL36A-HNRNPH2 (P430R +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2737307	NM_000169.3(GLA):c.1193A>C (p.Glu398Ala)	GLA, RPL36A-HNRNPH2 (E439A +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2733355	NM_000169.3(GLA):c.920C>T (p.Ala307Val)	GLA, RPL36A-HNRNPH2 (A307V)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2731356	NM_000169.3(GLA):c.496C>T (p.Leu166=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2723887	NM_000169.3(GLA):c.801+16C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2723119	NM_000169.3(GLA):c.370-10C>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2721245	NM_000169.3(GLA):c.64G>A (p.Val22Ile)	GLA, RPL36A-HNRNPH2 (V22I)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2711521	NM_000169.3(GLA):c.696T>C (p.Ile232=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2708959	NM_000169.3(GLA):c.1000-17C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2707792	NM_000169.3(GLA):c.1132dup (p.Cys378fs)	GLA, RPL36A-HNRNPH2 (C378fs +1 more)	Duplication (frameshift variant +2 more)	Fabry disease	GPathogenic
Select item 2701002	NM_000169.3(GLA):c.1192G>C (p.Glu398Gln)	GLA, RPL36A-HNRNPH2 (E398Q +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2699779	NM_000169.3(GLA):c.640-12C>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 2698680	NM_000169.3(GLA):c.1236T>C (p.Thr412=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2698094	NM_000169.3(GLA):c.999+7A>C	GLA, RPL36A-HNRNPH2 (K336Q)	Single nucleotide variant (missense variant +1 more)	Fabry disease	GLikely benign
Select item 2694738	NM_000169.3(GLA):c.1166_1168delinsAGACTAGCTGAGTAACACAGCTGTGTTCCAGACTAGCTGAGTAACAAAGAGAGACACCCAACACAAAAACTAAAATTAGCCAGGTATGGTAACAGGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGTGGACCACTTGAGCCTGCAAGCTCAAAGCTGTAGCAAGCTATGATCCACACCACTGGCACTTACGAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAACTCCACTGGGGGGTTTCATACACTAGAAAACCTATTCTTTGTAGTTATTTTGGTATAAATATATCTACTTTAAAATGTGAGGGGGAATGTCAAAATGTTCAAGAGTGTAAGACCAAGTCCACAGACAATGTTATATATGTTACAGTGTACTGTGTCTGAAGAACAATGCCAAAATTCTTTATTAAATTAACTGTTATAACAAAGATCTGACACTTAACTCTTAGCAAAGACATCTCATATTCACTATGAATGTGTTACTGACTTCTCCCTATTAGCCTGAAATGTGTCTACTCACATGATAACCAATAACCATTGCATAATGACAAACTGCCTCATAAGGCCCCTAGTGATTGAAGTGCCAAATTAGAAAATTGCAACATATGATGTGAACTCAACCAGTCAGCTTCAATGCAAAACAAGTAGTACCAGTAAGAGGCATAAATTTCCCCACAAGCGGAATTGTATTGATGGCTCTAGCTTATTCCCTCCCAAAAGA (p.Pro389_Val390delinsGlnThrSerTer)	GLA, RPL36A-HNRNPH2	Indel (nonsense +2 more)	Fabry disease	GPathogenic
Select item 2693481	NM_000169.3(GLA):c.712A>G (p.Ser238Gly)	GLA, RPL36A-HNRNPH2 (S238G +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2689132	NM_000169.3(GLA):c.197A>G (p.Glu66Gly)	GLA, RPL36A-HNRNPH2 (E66G)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 2687480	NM_000169.3(GLA):c.116C>G (p.Thr39Arg)	GLA, RPL36A-HNRNPH2 (T39R)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 2683983	NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)	GLA, RPL36A-HNRNPH2 (Y222* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease	GPathogenic
Select item 2584496	NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)	GLA, RPL36A-HNRNPH2 (C378Y +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 2573378	NM_000169.3(GLA):c.1168G>A (p.Val390Met)	GLA, RPL36A-HNRNPH2 (V390M +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 2573377	NM_000169.3(GLA):c.1000-14dup	GLA, RPL36A-HNRNPH2	Duplication (intron variant)	Fabry disease +1 more	GConflicting classifications of pathogenicity

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