ClinVar for MedGen (Select 1636833) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2500724	NM_004924.6(ACTN4):c.584G>T (p.Gly195Val)	ACTN4 (G195V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	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 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 1805750	NM_004924.6(ACTN4):c.770T>G (p.Ile257Arg)	ACTN4 (I257R)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 1661531	NM_004924.6(ACTN4):c.2673C>T (p.Ala891=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1653297	NM_004924.6(ACTN4):c.2616C>T (p.Pro872=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely 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 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 1573489	NM_004924.6(ACTN4):c.240C>T (p.Asp80=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +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 1513414	NM_004924.6(ACTN4):c.1291+4C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GConflicting classifications of pathogenicity
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 1434698	NM_004924.6(ACTN4):c.55G>T (p.Gly19Cys)	ACTN4 (G19C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +1 more	GUncertain significance
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 1406574	NM_004924.6(ACTN4):c.2671G>A (p.Ala891Thr)	ACTN4 (A886T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1401724	NM_004924.6(ACTN4):c.2620G>A (p.Asp874Asn)	ACTN4 (D874N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1382056	NM_004924.6(ACTN4):c.1712A>G (p.Asp571Gly)	ACTN4 (D571G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +1 more	GUncertain significance
Select item 1367695	NM_004924.6(ACTN4):c.2410G>A (p.Asp804Asn)	ACTN4 (D804N)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 1 +1 more	GUncertain significance
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 1288503	NM_004924.6(ACTN4):c.1551+49C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1280340	NM_004924.6(ACTN4):c.278-98G>A	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)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1269337	NM_004924.6(ACTN4):c.162+61T>C	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1261328	NM_004924.6(ACTN4):c.1442+64C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1259827	NM_004924.6(ACTN4):c.277+29G>C	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1250001	NM_004924.6(ACTN4):c.2418+28A>G	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1248068	NM_004924.6(ACTN4):c.1442+72C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1237308	NM_004924.6(ACTN4):c.1291+81C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
Select item 1228667	NM_004924.6(ACTN4):c.734-54C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +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 1191708	NM_004924.6(ACTN4):c.484+75C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1182437	NM_004924.6(ACTN4):c.820-94C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 1 +1 more	GBenign
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 1170443	NM_004924.6(ACTN4):c.2011-5C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely 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 1102374	NM_004924.6(ACTN4):c.2526G>A (p.Thr842=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1101230	NM_004924.6(ACTN4):c.2508G>A (p.Ser836=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 more	GLikely benign
Select item 1095333	NM_004924.6(ACTN4):c.2191-4G>A	ACTN4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely 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 1035100	NM_004924.6(ACTN4):c.1840G>A (p.Val614Ile)	ACTN4 (V614I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +1 more	GUncertain significance
Select item 1034128	NM_004924.6(ACTN4):c.1607G>A (p.Arg536His)	ACTN4 (R536H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	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 989435	NM_020401.4(NUP107):c.1781G>A (p.Cys594Tyr)	NUP107 (C565Y +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
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 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 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 829890	NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser)	ACTN4 (N609S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 747555	NM_004924.6(ACTN4):c.1515C>T (p.Leu505=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +1 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 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 725444	NM_004924.6(ACTN4):c.1341G>A (p.Ser447=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign/Likely benign
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 635450	NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)	ACTN4 (A278T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 599123	NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr)	ACTN4 (A427T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 585366	NM_004924.6(ACTN4):c.894C>T (p.Tyr298=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 585365	NM_004924.6(ACTN4):c.738C>T (p.Ile246=)	ACTN4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 585364	NM_004924.6(ACTN4):c.2679C>T (p.Pro893=)	ACTN4	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GBenign/Likely benign
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 585362	NM_004924.6(ACTN4):c.2469C>T (p.Ser823=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 585361	NM_004924.6(ACTN4):c.2400C>T (p.Asp800=)	ACTN4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 585360	NM_004924.6(ACTN4):c.2016C>T (p.Ile672=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +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 522528	NM_001025616.3(ARHGAP24):c.892C>T (p.Arg298Cys)	ARHGAP24 (R298C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 446784	NM_004924.6(ACTN4):c.1868G>T (p.Trp623Leu)	ACTN4 (W623L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 427769	NM_004924.6(ACTN4):c.719T>C (p.Met240Thr)	ACTN4 (M240T)	Single nucleotide variant (missense variant)	not provided	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 259584	NM_004924.6(ACTN4):c.978G>A (p.Gln326=)	ACTN4	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 259583	NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)	ACTN4 (R310Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 259582	NM_004924.6(ACTN4):c.546C>T (p.Asn182=)	ACTN4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259581	NM_004924.6(ACTN4):c.537G>A (p.Pro179=)	ACTN4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259580	NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu)	ACTN4 (P179L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 259579	NM_004924.6(ACTN4):c.398-16C>T	ACTN4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 259578	NM_004924.6(ACTN4):c.369C>T (p.Gly123=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 259577	NM_004924.6(ACTN4):c.2670C>A (p.Asp890Glu)	ACTN4 (D890E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 259576	NM_004924.6(ACTN4):c.2563T>C (p.Leu855=)	ACTN4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259575	NM_004924.6(ACTN4):c.246C>T (p.Leu82=)	ACTN4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259574	NM_004924.6(ACTN4):c.2401G>A (p.Val801Met)	ACTN4 (V801M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 259573	NM_004924.6(ACTN4):c.2316G>A (p.Ala772=)	ACTN4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 259572	NM_004924.6(ACTN4):c.1998G>A (p.Gln666=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 259571	NM_004924.6(ACTN4):c.1977T>C (p.Asn659=)	ACTN4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 259569	NM_004924.6(ACTN4):c.1692+10C>G	ACTN4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 259568	NM_004924.6(ACTN4):c.1611G>A (p.Ala537=)	ACTN4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 259567	NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)	ACTN4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 5422	NM_004924.6(ACTN4):c.784T>C (p.Ser262Pro)	ACTN4 (S262P)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 1	GPathogenic
Select item 5421	NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile)	ACTN4 (T259I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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

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Items: 95