ANKRD13A[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2267639	NM_033121.2(ANKRD13A):c.28C>A (p.His10Asn)	ANKRD13A, GIT2 (H10N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511211	NM_033121.2(ANKRD13A):c.125G>A (p.Arg42Gln)	ANKRD13A (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329800	NM_033121.2(ANKRD13A):c.188A>G (p.His63Arg)	ANKRD13A (H63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547720	NM_033121.2(ANKRD13A):c.269T>C (p.Val90Ala)	ANKRD13A (V90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122967	NM_033121.2(ANKRD13A):c.390C>G (p.Phe130Leu)	ANKRD13A (F130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338522	NM_033121.2(ANKRD13A):c.430G>A (p.Asp144Asn)	ANKRD13A (D144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239164	NM_033121.2(ANKRD13A):c.433G>A (p.Val145Ile)	ANKRD13A (V145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381274	NM_033121.2(ANKRD13A):c.452G>A (p.Ser151Asn)	ANKRD13A (S151N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296354	NM_033121.2(ANKRD13A):c.466C>T (p.Arg156Cys)	ANKRD13A (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296353	NM_033121.2(ANKRD13A):c.467G>A (p.Arg156His)	ANKRD13A (R156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387864	NM_033121.2(ANKRD13A):c.521G>A (p.Arg174His)	ANKRD13A (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379911	NM_033121.2(ANKRD13A):c.572A>G (p.Asn191Ser)	ANKRD13A (N191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322642	NM_033121.2(ANKRD13A):c.581A>G (p.Asp194Gly)	ANKRD13A (D194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368520	NM_033121.2(ANKRD13A):c.673C>T (p.Arg225Trp)	ANKRD13A (R225W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225014	NM_033121.2(ANKRD13A):c.674G>A (p.Arg225Gln)	ANKRD13A (R225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296359	NM_033121.2(ANKRD13A):c.677G>A (p.Arg226Gln)	ANKRD13A (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568790	NM_033121.2(ANKRD13A):c.781G>A (p.Val261Ile)	ANKRD13A (V261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610460	NM_033121.2(ANKRD13A):c.800A>T (p.Lys267Met)	ANKRD13A (K267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123002	NM_033121.2(ANKRD13A):c.866A>G (p.Glu289Gly)	ANKRD13A (E289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540675	NM_033121.2(ANKRD13A):c.925C>T (p.His309Tyr)	ANKRD13A (H309Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538821	NM_033121.2(ANKRD13A):c.943G>A (p.Gly315Arg)	ANKRD13A (G315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287220	NM_033121.2(ANKRD13A):c.967A>G (p.Thr323Ala)	ANKRD13A, LOC126861636 (T323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122927	NM_033121.2(ANKRD13A):c.1066A>G (p.Arg356Gly)	ANKRD13A, LOC126861636 (R356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289041	NM_033121.2(ANKRD13A):c.1232T>C (p.Ile411Thr)	ANKRD13A (I411T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400235	NM_033121.2(ANKRD13A):c.1310C>T (p.Ser437Phe)	ANKRD13A (S437F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622099	NM_033121.2(ANKRD13A):c.1315T>C (p.Ser439Pro)	ANKRD13A (S439P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522437	NM_033121.2(ANKRD13A):c.1356C>G (p.His452Gln)	ANKRD13A (H452Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122948	NM_033121.2(ANKRD13A):c.1399G>A (p.Glu467Lys)	ANKRD13A (E467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218379	NM_033121.2(ANKRD13A):c.1409A>G (p.Tyr470Cys)	ANKRD13A (Y470C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204517	NM_033121.2(ANKRD13A):c.1436A>G (p.His479Arg)	ANKRD13A (H479R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224444	NM_033121.2(ANKRD13A):c.1523C>G (p.Pro508Arg)	ANKRD13A (P508R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296366	NM_033121.2(ANKRD13A):c.1626C>G (p.Ser542Arg)	ANKRD13A (S542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 687078	GRCh37/hg19 12q24.11(chr12:110469128-110620661)x1	ANKRD13A, C12orf76 +1 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 41