Related gene-specific medical variations for Gene (Select 81) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3242684	NC_000019.9:g.(?_39138352)_(39138567_?)dup	ACTN4	Duplication	not provided	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 3049749	NM_144691.4(CAPN12):c.*7C>T	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant)	CAPN12-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 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 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 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 2517451	NM_144691.4(CAPN12):c.2000G>A (p.Arg667His)	ACTN4, CAPN12 (R667H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473056	NM_144691.4(CAPN12):c.2077C>T (p.His693Tyr)	ACTN4, CAPN12 (H693Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387253	NM_144691.4(CAPN12):c.2020C>T (p.Arg674Cys)	ACTN4, CAPN12 (R674C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360304	NM_144691.4(CAPN12):c.2036G>A (p.Arg679Gln)	ACTN4, CAPN12 (R679Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308258	NM_144691.4(CAPN12):c.2035C>T (p.Arg679Trp)	ACTN4, CAPN12 (R679W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253705	NM_144691.4(CAPN12):c.1974C>G (p.Asn658Lys)	ACTN4, CAPN12 (N658K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2170282	NM_004924.6(ACTN4):c.162+6C>T	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706702	NM_004924.6(ACTN4):c.162+33G>A	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665625	NM_004924.6(ACTN4):c.162+12G>A	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293786	NM_144691.4(CAPN12):c.2074+22_2074+31del	ACTN4, CAPN12	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1293783	NM_144691.4(CAPN12):c.1958-84T>A	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1275240	NM_144691.4(CAPN12):c.*197T>C	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1269337	NM_004924.6(ACTN4):c.162+61T>C	ACTN4, LOC130064361	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1261296	NM_144691.4(CAPN12):c.2134-6C>T	ACTN4, CAPN12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1144244	NM_004924.6(ACTN4):c.162+18del	ACTN4, LOC130064361	Deletion (intron variant)	not provided	GLikely benign
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 777472	NM_144691.4(CAPN12):c.2040C>T (p.Phe680=)	ACTN4, CAPN12	Single nucleotide variant (synonymous variant +1 more)	CAPN12-related disorder +1 more	GBenign
Select item 735155	NM_144691.4(CAPN12):c.2079C>T (p.His693=)	CAPN12, ACTN4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 591399	NM_004924.6(ACTN4):c.2400_2401delinsTA (p.Val801Met)	ACTN4 (V801M)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 259566	NM_004924.6(ACTN4):c.1144-11C>A	ACTN4	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Links from Gene

Items: 31