AKAP10[gene] and "single gene"[properties] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 391023	NM_007202.4(AKAP10):c.1972A>G (p.Lys658Glu)	AKAP10 (K658E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606804	NM_007202.4(AKAP10):c.1963C>A (p.Pro655Thr)	AKAP10 (P655T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104532	NM_007202.4(AKAP10):c.1946A>G (p.Gln649Arg)	AKAP10 (Q649R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5404	NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val)	AKAP10 (I646V +1 more)	Single nucleotide variant (missense variant)	AKAP10-related disorder	GBenign
Select item 2478463	NM_007202.4(AKAP10):c.1693A>G (p.Ile565Val)	AKAP10 (I507V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266505	NM_007202.4(AKAP10):c.1691C>T (p.Ala564Val)	AKAP10 (A506V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055540	NM_007202.4(AKAP10):c.1641+6G>A	AKAP10	Single nucleotide variant (intron variant)	AKAP10-related disorder	GBenign
Select item 3104526	NM_007202.4(AKAP10):c.1630T>G (p.Ser544Ala)	AKAP10 (S544A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104524	NM_007202.4(AKAP10):c.1609C>T (p.His537Tyr)	AKAP10 (H537Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210180	NM_007202.4(AKAP10):c.1606T>A (p.Ser536Thr)	AKAP10 (S536T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041825	NM_007202.4(AKAP10):c.1568C>T (p.Ser523Leu)	AKAP10 (S523L)	Single nucleotide variant (missense variant +1 more)	AKAP10-related disorder	GBenign
Select item 2585217	NM_007202.4(AKAP10):c.1467+5C>A	AKAP10	Single nucleotide variant (intron variant)	Conduction disorder of the heart	GUncertain significance
Select item 2601649	NM_007202.4(AKAP10):c.1442G>A (p.Arg481His)	AKAP10 (R481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048722	NM_007202.4(AKAP10):c.1323-4A>G	AKAP10	Single nucleotide variant (intron variant)	AKAP10-related disorder	GLikely benign
Select item 2394811	NM_007202.4(AKAP10):c.1227G>C (p.Trp409Cys)	AKAP10 (W409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394810	NM_007202.4(AKAP10):c.1226G>T (p.Trp409Leu)	AKAP10 (W409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034228	NM_007202.4(AKAP10):c.1221A>G (p.Gln407=)	AKAP10	Single nucleotide variant (synonymous variant)	AKAP10-related disorder	GLikely benign
Select item 2589338	NM_007202.4(AKAP10):c.1107G>C (p.Gln369His)	AKAP10 (Q369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104504	NM_007202.4(AKAP10):c.1021G>A (p.Val341Ile)	AKAP10 (V341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040781	NM_007202.4(AKAP10):c.1020C>T (p.Phe340=)	AKAP10	Single nucleotide variant (synonymous variant)	AKAP10-related disorder	GLikely benign
Select item 2594676	NM_007202.4(AKAP10):c.977C>G (p.Ala326Gly)	AKAP10 (A326G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485607	NM_007202.4(AKAP10):c.890A>T (p.Asp297Val)	AKAP10 (D297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207421	NM_007202.4(AKAP10):c.878G>A (p.Ser293Asn)	AKAP10 (S293N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327130	NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu)	AKAP10 (K284E)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 3104574	NM_007202.4(AKAP10):c.821C>T (p.Ala274Val)	AKAP10 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475172	NM_007202.4(AKAP10):c.803C>T (p.Ser268Phe)	AKAP10 (S268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361557	NM_007202.4(AKAP10):c.778G>A (p.Val260Ile)	AKAP10 (V260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104562	NM_007202.4(AKAP10):c.762A>C (p.Arg254Ser)	AKAP10 (R254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059344	NM_007202.4(AKAP10):c.746G>A (p.Arg249His)	AKAP10 (R249H)	Single nucleotide variant (missense variant)	AKAP10-related disorder	GBenign
Select item 2459264	NM_007202.4(AKAP10):c.691A>C (p.Ser231Arg)	AKAP10 (S231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104559	NM_007202.4(AKAP10):c.668T>C (p.Ile223Thr)	AKAP10 (I223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045328	NM_007202.4(AKAP10):c.618A>G (p.Arg206=)	AKAP10	Single nucleotide variant (synonymous variant)	AKAP10-related disorder	GLikely benign
Select item 3104555	NM_007202.4(AKAP10):c.560C>T (p.Ser187Phe)	AKAP10 (S187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104550	NM_007202.4(AKAP10):c.505A>G (p.Ile169Val)	AKAP10 (I169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104546	NM_007202.4(AKAP10):c.500C>T (p.Ser167Leu)	AKAP10 (S167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262011	NM_007202.4(AKAP10):c.268A>G (p.Thr90Ala)	AKAP10 (T90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524050	NM_007202.4(AKAP10):c.217A>G (p.Ile73Val)	AKAP10 (I73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402688	NM_007202.4(AKAP10):c.205A>G (p.Ser69Gly)	AKAP10 (S69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104528	NM_007202.4(AKAP10):c.181G>C (p.Ala61Pro)	AKAP10 (A61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048878	NM_007202.4(AKAP10):c.113C>T (p.Thr38Ile)	AKAP10 (T38I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 40