"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ACTN4"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1573489	NM_004924.6(ACTN4):c.240C>T (p.Asp80=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 585365	NM_004924.6(ACTN4):c.738C>T (p.Ile246=)	ACTN4	Single nucleotide variant (synonymous variant +1 more)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 5420	NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu)	ACTN4 (K255E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 585366	NM_004924.6(ACTN4):c.894C>T (p.Tyr298=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 915866	NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp)	ACTN4 (R310W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +1 more	GUncertain significance
Select item 259583	NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)	ACTN4 (R310Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1050943	NM_004924.6(ACTN4):c.932G>A (p.Arg311His)	ACTN4 (R311H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +2 more	GUncertain significance
Select item 710144	NM_004924.6(ACTN4):c.1218C>A (p.Arg406=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign/Likely benign
Select item 1428890	NM_004924.6(ACTN4):c.1276G>A (p.Glu426Lys)	ACTN4 (E426K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +1 more	GUncertain significance
Select item 1513414	NM_004924.6(ACTN4):c.1291+4C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725444	NM_004924.6(ACTN4):c.1341G>A (p.Ser447=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign/Likely benign
Select item 585359	NM_004924.6(ACTN4):c.1425C>T (p.Ala475=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1625293	NM_004924.6(ACTN4):c.1458C>T (p.Tyr486=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 747555	NM_004924.6(ACTN4):c.1515C>T (p.Leu505=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 259567	NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +3 more	GBenign/Likely benign
Select item 259568	NM_004924.6(ACTN4):c.1611G>A (p.Ala537=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 745829	NM_004924.6(ACTN4):c.1680C>T (p.Ile560=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GLikely benign
Select item 1382056	NM_004924.6(ACTN4):c.1712A>G (p.Asp571Gly)	ACTN4 (D571G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1484870	NM_004924.6(ACTN4):c.1750C>T (p.Arg584Cys)	ACTN4 (R584C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259570	NM_004924.6(ACTN4):c.1770C>T (p.Ile590=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1659829	NM_004924.6(ACTN4):c.1806C>T (p.His602=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1035100	NM_004924.6(ACTN4):c.1840G>A (p.Val614Ile)	ACTN4 (V614I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 446784	NM_004924.6(ACTN4):c.1868G>T (p.Trp623Leu)	ACTN4 (W623L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +3 more	GUncertain significance
Select item 736728	NM_004924.6(ACTN4):c.1902C>T (p.Asp634=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1170443	NM_004924.6(ACTN4):c.2011-5C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1599820	NM_004924.6(ACTN4):c.2011-4G>A	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign/Likely benign
Select item 585360	NM_004924.6(ACTN4):c.2016C>T (p.Ile672=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign/Likely benign
Select item 1170555	NM_004924.6(ACTN4):c.2191-5C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1095333	NM_004924.6(ACTN4):c.2191-4G>A	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 259573	NM_004924.6(ACTN4):c.2316G>A (p.Ala772=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 585361	NM_004924.6(ACTN4):c.2400C>T (p.Asp800=)	ACTN4	Single nucleotide variant (synonymous variant +1 more)	Focal segmental glomerulosclerosis 1 +2 more	GBenign/Likely benign
Select item 1367695	NM_004924.6(ACTN4):c.2410G>A (p.Asp804Asn)	ACTN4 (D804N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 585362	NM_004924.6(ACTN4):c.2469C>T (p.Ser823=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GLikely benign
Select item 1101230	NM_004924.6(ACTN4):c.2508G>A (p.Ser836=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1551330	NM_004924.6(ACTN4):c.2520C>T (p.Thr840=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1102374	NM_004924.6(ACTN4):c.2526G>A (p.Thr842=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GLikely benign
Select item 1653297	NM_004924.6(ACTN4):c.2616C>T (p.Pro872=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GLikely benign
Select item 1401724	NM_004924.6(ACTN4):c.2620G>A (p.Asp874Asn)	ACTN4 (D874N +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +1 more	GUncertain significance
Select item 383178	NM_004924.6(ACTN4):c.2641G>A (p.Ala881Thr)	ACTN4 (A881T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 585363	NM_004924.6(ACTN4):c.2652G>A (p.Ala884=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1406574	NM_004924.6(ACTN4):c.2671G>A (p.Ala891Thr)	ACTN4 (A886T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1661531	NM_004924.6(ACTN4):c.2673C>T (p.Ala891=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GLikely benign
Select item 585364	NM_004924.6(ACTN4):c.2679C>T (p.Pro893=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign/Likely benign

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Items: 46