81[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1190450	NC_000019.10:g.38647490G>C	ACTN4, LOC130064360	Single nucleotide variant	not provided	GLikely benign
Select item 1188589	NC_000019.10:g.38647509C>T	ACTN4, LOC130064360	Single nucleotide variant	not provided	GLikely benign
Select item 1214446	NC_000019.10:g.38647524A>C	ACTN4, LOC130064360	Single nucleotide variant	not provided	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 3032933	NM_004924.6(ACTN4):c.-39G>T	ACTN4	Single nucleotide variant (5 prime UTR variant)	ACTN4-related disorder	GLikely benign
Select item 1470579	NM_004924.6(ACTN4):c.13C>T (p.His5Tyr)	ACTN4 (H5Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491691	NM_004924.6(ACTN4):c.25C>G (p.Gln9Glu)	ACTN4 (Q9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434698	NM_004924.6(ACTN4):c.55G>T (p.Gly19Cys)	ACTN4 (G19C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +2 more	GUncertain significance
Select item 988136	NM_004924.6(ACTN4):c.65C>T (p.Ala22Val)	ACTN4 (A22V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2716689	NM_004924.6(ACTN4):c.79_87dup (p.Gly29_Asp30insSerMetGly)	ACTN4	Duplication (inframe_insertion)	not provided	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 1698686	NM_004924.6(ACTN4):c.161A>G (p.Lys54Arg)	ACTN4 (K54R)	Single nucleotide variant (missense variant)	Corticosteroids response	Gdrug response
Select item 2170282	NM_004924.6(ACTN4):c.162+6C>T	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1665625	NM_004924.6(ACTN4):c.162+12G>A	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1144244	NM_004924.6(ACTN4):c.162+18del	ACTN4, LOC130064361	Deletion (intron variant)	not provided	GLikely benign
Select item 1706702	NM_004924.6(ACTN4):c.162+33G>A	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269337	NM_004924.6(ACTN4):c.162+61T>C	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign
Select item 1209060	NM_004924.6(ACTN4):c.163-189C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2438852	NM_004924.6(ACTN4):c.163-9C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1369991	NM_004924.6(ACTN4):c.163-5C>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 793369	NM_004924.6(ACTN4):c.165C>G (p.Thr55=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981939	NM_004924.6(ACTN4):c.170C>T (p.Thr57Met)	ACTN4 (T57M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028308	NM_004924.6(ACTN4):c.175T>C (p.Trp59Arg)	ACTN4 (W59R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GLikely pathogenic
Select item 930231	NM_004924.6(ACTN4):c.190C>G (p.Leu64Val)	ACTN4 (L64V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 1562571	NM_004924.6(ACTN4):c.213C>G (p.Ile71Met)	ACTN4 (I71M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1698687	NM_004924.6(ACTN4):c.232T>C (p.Phe78Leu)	ACTN4 (F78L)	Single nucleotide variant (missense variant)	Corticosteroids response	Gdrug response
Select item 829975	NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln)	ACTN4 (R79Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GLikely pathogenic
Select item 1573489	NM_004924.6(ACTN4):c.240C>T (p.Asp80=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 259575	NM_004924.6(ACTN4):c.246C>T (p.Leu82=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1016494	NM_004924.6(ACTN4):c.256C>G (p.Leu86Val)	ACTN4 (L86V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939064	NM_004924.6(ACTN4):c.277+17C>T	ACTN4	Single nucleotide variant (intron 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 1259827	NM_004924.6(ACTN4):c.277+29G>C	ACTN4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1280340	NM_004924.6(ACTN4):c.278-98G>A	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1626372	NM_004924.6(ACTN4):c.278-12T>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1169705	NM_004924.6(ACTN4):c.297G>A (p.Pro99=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 738988	NM_004924.6(ACTN4):c.306G>T (p.Gly102=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1034610	NM_004924.6(ACTN4):c.343G>A (p.Ala115Thr)	ACTN4 (A115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636266	NM_004924.6(ACTN4):c.346C>T (p.Leu116=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259578	NM_004924.6(ACTN4):c.369C>T (p.Gly123=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 2304279	NM_004924.6(ACTN4):c.385A>G (p.Ile129Val)	ACTN4 (I129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1286675	NM_004924.6(ACTN4):c.398-271_398-268del	ACTN4	Deletion (intron variant)	not provided	GBenign
Select item 1250934	NM_004924.6(ACTN4):c.398-260T>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1531192	NM_004924.6(ACTN4):c.398-15dup	ACTN4	Duplication (intron variant)	not provided	GBenign
Select item 259579	NM_004924.6(ACTN4):c.398-16C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign
Select item 1958878	NM_004924.6(ACTN4):c.398-4G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2715003	NM_004924.6(ACTN4):c.414C>T (p.Asn138=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	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 1124811	NM_004924.6(ACTN4):c.427C>T (p.Leu143=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736886	NM_004924.6(ACTN4):c.445ATC[1] (p.Ile150del)	ACTN4 (I150del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 2444236	NM_004924.6(ACTN4):c.445A>G (p.Ile149Val)	ACTN4 (I149V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 599130	NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser)	ACTN4 (F153S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GLikely pathogenic
Select item 1712393	NM_004924.6(ACTN4):c.459C>A (p.Phe153Leu)	ACTN4 (F153L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 799878	NM_004924.6(ACTN4):c.459C>T (p.Phe153=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663322	NM_004924.6(ACTN4):c.477C>T (p.Ser159=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1698688	NM_004924.6(ACTN4):c.482A>G (p.Glu161Gly)	ACTN4 (E161G)	Single nucleotide variant (missense variant)	Corticosteroids response	Gdrug response
Select item 2806395	NM_004924.6(ACTN4):c.484+12C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216826	NM_004924.6(ACTN4):c.484+25G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191708	NM_004924.6(ACTN4):c.484+75C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign/Likely benign
Select item 1216313	NM_004924.6(ACTN4):c.484+135G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266299	NM_004924.6(ACTN4):c.485-153C>T	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987171	NM_004924.6(ACTN4):c.485-14T>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730072	NM_004924.6(ACTN4):c.492G>A (p.Ser164=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 591474	NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg)	ACTN4 (K166R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 599063	NM_004924.6(ACTN4):c.510_512del (p.Leu171del)	ACTN4 (L171del)	Deletion (inframe_deletion)	Focal segmental glomerulosclerosis 1	GLikely pathogenic
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 259580	NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu)	ACTN4 (P179L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 259581	NM_004924.6(ACTN4):c.537G>A (p.Pro179=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign
Select item 259582	NM_004924.6(ACTN4):c.546C>T (p.Asn182=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1900192	NM_004924.6(ACTN4):c.551A>G (p.Asn184Ser)	ACTN4 (N184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698689	NM_004924.6(ACTN4):c.562T>C (p.Phe188Leu)	ACTN4 (F188L)	Single nucleotide variant (missense variant)	Corticosteroids response	Gdrug response
Select item 755465	NM_004924.6(ACTN4):c.572+7G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906367	NM_004924.6(ACTN4):c.572+11G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2120586	NM_004924.6(ACTN4):c.572+17G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 420801	NM_004924.6(ACTN4):c.573_575del (p.Ser191_Trp192delinsArg)	ACTN4	Deletion (splice acceptor variant)	not specified	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 2500724	NM_004924.6(ACTN4):c.584G>T (p.Gly195Val)	ACTN4 (G195V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GPathogenic
Select item 235864	NM_004924.6(ACTN4):c.584G>A (p.Gly195Asp)	ACTN4 (G195D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GPathogenic
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 1491950	NM_004924.6(ACTN4):c.613_633del (p.His205_Glu211del)	ACTN4	Deletion (inframe_deletion)	not provided	GUncertain significance
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 1193620	NM_004924.6(ACTN4):c.652-286del	ACTN4	Deletion (intron variant)	not provided	GLikely benign
Select item 1221578	NM_004924.6(ACTN4):c.652-199G>A	ACTN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186479	NM_004924.6(ACTN4):c.652-162C>G	ACTN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288878	NM_004924.6(ACTN4):c.652-55G>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1271640	NM_004924.6(ACTN4):c.652-37G>A	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1227576	NM_004924.6(ACTN4):c.652-34G>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 2868015	NM_004924.6(ACTN4):c.652-10C>A	ACTN4	Single nucleotide variant (intron 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 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 1037292	NM_004924.6(ACTN4):c.675C>A (p.Asn225Lys)	ACTN4 (N225K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010835	NM_004924.6(ACTN4):c.684C>T (p.Phe228=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671026	NM_004924.6(ACTN4):c.714C>T (p.Pro238=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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