ClinVar for Gene (Select 81) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377289	NM_004924.6(ACTN4):c.665C>G (p.Thr222Ser)	ACTN4 (T222S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 3377287	NM_004924.6(ACTN4):c.1342G>T (p.Asp448Tyr)	ACTN4 (D448Y)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 3368793	NM_004924.6(ACTN4):c.1174C>T (p.Gln392Ter)	ACTN4 (Q392*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3356702	NM_004924.6(ACTN4):c.747G>A (p.Thr249=)	ACTN4	Single nucleotide variant (synonymous variant +1 more)	ACTN4-related disorder	GLikely benign
Select item 3352285	NM_004924.6(ACTN4):c.415G>A (p.Ala139Thr)	ACTN4 (A139T)	Single nucleotide variant (missense variant)	ACTN4-related disorder	GUncertain significance
Select item 3349479	NM_004924.6(ACTN4):c.1007G>A (p.Arg336His)	ACTN4 (R336H)	Single nucleotide variant (missense variant)	ACTN4-related disorder	GUncertain significance
Select item 3346860	NM_004924.6(ACTN4):c.2256C>T (p.Asn752=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3264546	NM_004924.6(ACTN4):c.1897C>T (p.Arg633Trp)	ACTN4 (R633W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264535	NM_004924.6(ACTN4):c.1556C>T (p.Thr519Ile)	ACTN4 (T519I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263169	NM_144691.4(CAPN12):c.2006G>A (p.Arg669Gln)	ACTN4, CAPN12 (R669Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263167	NM_144691.4(CAPN12):c.1997G>C (p.Ser666Thr)	ACTN4, CAPN12 (S666T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255302	NM_004924.6(ACTN4):c.819+1074C>T	ACTN4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3250882	NM_004924.6(ACTN4):c.819+980C>T	ACTN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3242684	NC_000019.9:g.(?_39138352)_(39138567_?)dup	ACTN4	Duplication	not provided	GUncertain significance
Select item 3236342	NM_004924.6(ACTN4):c.718A>G (p.Met240Val)	ACTN4 (M240V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GLikely pathogenic
Select item 3236249	NM_004924.6(ACTN4):c.655G>A (p.Asp219Asn)	ACTN4 (D219N)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 3234032	NM_004924.6(ACTN4):c.2577+5G>A	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 3142194	NM_004924.6(ACTN4):c.2233C>T (p.Arg745Cys)	ACTN4 (R745C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142185	NM_004924.6(ACTN4):c.2204G>T (p.Gly735Val)	ACTN4 (G735V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142149	NM_004924.6(ACTN4):c.1738G>A (p.Ala580Thr)	ACTN4 (A580T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142144	NM_004924.6(ACTN4):c.1606C>T (p.Arg536Cys)	ACTN4 (R536C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137049	NM_144691.4(CAPN12):c.2097T>G (p.Asp699Glu)	ACTN4, CAPN12 (D699E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068392	NM_004924.6(ACTN4):c.517T>C (p.Cys173Arg)	ACTN4 (C173R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GLikely pathogenic
Select item 3068364	NM_004924.6(ACTN4):c.1315C>T (p.Arg439Trp)	ACTN4 (R439W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 3066246	NM_004924.6(ACTN4):c.1149C>G (p.Ile383Met)	ACTN4 (I383M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3061635	NM_004924.6(ACTN4):c.506T>G (p.Leu169Arg)	ACTN4 (L169R)	Single nucleotide variant (missense variant)	ACTN4-related disorder	GLikely pathogenic
Select item 3059148	NM_004924.6(ACTN4):c.1848G>A (p.Pro616=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3056203	NM_004924.6(ACTN4):c.2640C>T (p.Ile880=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3055301	NM_004924.6(ACTN4):c.819+915TC[5]	ACTN4	Microsatellite (intron variant)	ACTN4-related disorder	GLikely benign
Select item 3050721	NM_004924.6(ACTN4):c.1164G>A (p.Gln388=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3050017	NM_004924.6(ACTN4):c.-43A>G	ACTN4	Single nucleotide variant (5 prime UTR variant)	ACTN4-related disorder	GLikely benign
Select item 3049749	NM_144691.4(CAPN12):c.*7C>T	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant)	CAPN12-related disorder	GLikely benign
Select item 3048713	NM_004924.6(ACTN4):c.2631G>A (p.Glu877=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3046818	NM_004924.6(ACTN4):c.1275C>T (p.His425=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3046345	NM_004924.6(ACTN4):c.819+930G>A	ACTN4	Single nucleotide variant (intron variant)	ACTN4-related disorder	GLikely benign
Select item 3045759	NM_004924.6(ACTN4):c.819+9C>G	ACTN4	Single nucleotide variant (intron variant)	ACTN4-related disorder	GLikely benign
Select item 3043382	NM_004924.6(ACTN4):c.2688C>T (p.Leu896=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3043300	NM_004924.6(ACTN4):c.1737C>T (p.Asp579=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3042703	NM_004924.6(ACTN4):c.2338-4G>C	ACTN4	Single nucleotide variant (intron variant)	ACTN4-related disorder	GLikely benign
Select item 3039942	NM_144691.4(CAPN12):c.2091C>T (p.His697=)	ACTN4, CAPN12	Single nucleotide variant (synonymous variant +1 more)	CAPN12-related disorder	GLikely benign
Select item 3039932	NM_144691.4(CAPN12):c.1999C>T (p.Arg667Cys)	ACTN4, CAPN12 (R667C)	Single nucleotide variant (missense variant +1 more)	CAPN12-related disorder	GBenign
Select item 3036912	NM_004924.6(ACTN4):c.1098C>T (p.Leu366=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3036408	NM_004924.6(ACTN4):c.813G>A (p.Ala271=)	ACTN4	Single nucleotide variant (synonymous variant +1 more)	ACTN4-related disorder	GLikely benign
Select item 3036060	NM_004924.6(ACTN4):c.912+6T>A	ACTN4	Single nucleotide variant (intron variant)	ACTN4-related disorder	GLikely benign
Select item 3035302	NM_004924.6(ACTN4):c.608A>C (p.His203Pro)	ACTN4 (H203P)	Single nucleotide variant (missense variant)	ACTN4-related disorder	GLikely pathogenic
Select item 3034216	NM_004924.6(ACTN4):c.1095C>T (p.Arg365=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3033475	NM_004924.6(ACTN4):c.819+981G>T	ACTN4 (V261L)	Single nucleotide variant (missense variant +1 more)	ACTN4-related disorder	GUncertain significance
Select item 3032933	NM_004924.6(ACTN4):c.-39G>T	ACTN4	Single nucleotide variant (5 prime UTR variant)	ACTN4-related disorder	GLikely benign
Select item 3032570	NM_004924.6(ACTN4):c.1017G>A (p.Arg339=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3029633	NM_004924.6(ACTN4):c.880C>T (p.Leu294=)	ACTN4	Single nucleotide variant (synonymous variant)	ACTN4-related disorder	GLikely benign
Select item 3025448	NM_004924.6(ACTN4):c.838C>A (p.Arg280=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025099	NM_144691.4(CAPN12):c.2036G>T (p.Arg679Leu)	ACTN4, CAPN12 (R679L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024610	GRCh37/hg19 19q13.2(chr19:38909031-39308215)x3	ACTN4, CAPN12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 3015569	NM_004924.6(ACTN4):c.2083C>T (p.Arg695Cys)	ACTN4 (R695C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013368	NM_004924.6(ACTN4):c.2235C>T (p.Arg745=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010835	NM_004924.6(ACTN4):c.684C>T (p.Phe228=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002963	NM_004924.6(ACTN4):c.2470G>A (p.Gly824Ser)	ACTN4 (G819S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993020	NM_004924.6(ACTN4):c.1338A>G (p.Leu446=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992073	NM_004924.6(ACTN4):c.1855A>G (p.Ile619Val)	ACTN4 (I619V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968950	NM_004924.6(ACTN4):c.2157C>T (p.Ile719=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968326	NM_004924.6(ACTN4):c.277+20A>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967106	NM_004924.6(ACTN4):c.2091C>T (p.Ile697=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2962130	NM_004924.6(ACTN4):c.409G>A (p.Gly137Ser)	ACTN4 (G137S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956433	NM_004924.6(ACTN4):c.2191-19C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900068	NM_004924.6(ACTN4):c.2577+6C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2895450	NM_004924.6(ACTN4):c.912+1G>A	ACTN4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2893157	NM_004924.6(ACTN4):c.573C>T (p.Ser191=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2885216	NM_004924.6(ACTN4):c.1729C>T (p.Leu577=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883574	NM_004924.6(ACTN4):c.652-3T>C	ACTN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2882536	NM_004924.6(ACTN4):c.2010+10G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868015	NM_004924.6(ACTN4):c.652-10C>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867164	NM_004924.6(ACTN4):c.2662G>T (p.Gly888Cys)	ACTN4 (G883C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851553	NM_004924.6(ACTN4):c.821C>T (p.Ala274Val)	ACTN4 (A274V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840267	NM_004924.6(ACTN4):c.2571G>A (p.Gly857=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838286	NM_004924.6(ACTN4):c.2347G>C (p.Gly783Arg)	ACTN4 (G783R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2811038	NM_004924.6(ACTN4):c.2715G>A (p.Leu905=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806395	NM_004924.6(ACTN4):c.484+12C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799196	NM_004924.6(ACTN4):c.1459G>A (p.Asp487Asn)	ACTN4 (D487N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788520	NM_004924.6(ACTN4):c.1422C>T (p.Ala474=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757911	NM_004924.6(ACTN4):c.631G>A (p.Glu211Lys)	ACTN4 (E211K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745676	NM_004924.6(ACTN4):c.2328C>G (p.His776Gln)	ACTN4 (H776Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736887	NM_004924.6(ACTN4):c.2629G>A (p.Glu877Lys)	ACTN4 (E872K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736886	NM_004924.6(ACTN4):c.445ATC[1] (p.Ile150del)	ACTN4 (I150del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 2729273	NM_004924.6(ACTN4):c.1469A>G (p.Asn490Ser)	ACTN4 (N490S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716689	NM_004924.6(ACTN4):c.79_87dup (p.Gly29_Asp30insSerMetGly)	ACTN4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2715003	NM_004924.6(ACTN4):c.414C>T (p.Asn138=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713893	NM_004924.6(ACTN4):c.1443-10C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713843	NM_004924.6(ACTN4):c.1377C>T (p.Phe459=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692337	NM_004924.6(ACTN4):c.283C>T (p.Arg95Trp)	ACTN4 (R95W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 2649820	NM_144691.4(CAPN12):c.2058C>T (p.His686=)	ACTN4, CAPN12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649819	NM_004924.6(ACTN4):c.759C>T (p.Asp253=)	ACTN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649818	NM_004924.6(ACTN4):c.739G>A (p.Val247Met)	ACTN4 (V247M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2633775	NM_004924.6(ACTN4):c.2362G>A (p.Glu788Lys)	ACTN4 (E788K)	Single nucleotide variant (missense variant +1 more)	ACTN4-related disorder	GUncertain significance
Select item 2632129	NM_004924.6(ACTN4):c.2020C>T (p.Arg674Cys)	ACTN4 (R674C)	Single nucleotide variant (missense variant)	ACTN4-related disorder	GUncertain significance
Select item 2616652	NM_004924.6(ACTN4):c.88G>A (p.Asp30Asn)	ACTN4 (D30N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606395	NM_004924.6(ACTN4):c.2578A>T (p.Asn860Tyr)	ACTN4 (N855Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600472	NM_144691.4(CAPN12):c.2032G>A (p.Glu678Lys)	ACTN4, CAPN12 (E678K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597179	NM_144691.4(CAPN12):c.1972A>C (p.Asn658His)	ACTN4, CAPN12 (N658H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572429	NM_004924.6(ACTN4):c.493G>A (p.Ala165Thr)	ACTN4 (A165T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GLikely pathogenic

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