ANKDD1A[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 151181	GRCh38/hg38 15q22.31(chr15:64671902-65034346)x1	ANKDD1A, LOC125078103 +34 more	Copy number loss	See cases	GUncertain significance
Select item 2291863	NM_182703.6(ANKDD1A):c.17C>A (p.Ala6Glu)	ANKDD1A (A6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617537	NM_182703.6(ANKDD1A):c.31G>A (p.Gly11Ser)	ANKDD1A (G11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568824	NM_182703.6(ANKDD1A):c.104T>C (p.Ile35Thr)	ANKDD1A (I35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295675	NM_182703.6(ANKDD1A):c.194G>A (p.Arg65His)	ANKDD1A (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210046	NM_182703.6(ANKDD1A):c.226G>A (p.Glu76Lys)	ANKDD1A (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221397	NM_182703.6(ANKDD1A):c.245C>T (p.Ala82Val)	ANKDD1A (A82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605045	NM_182703.6(ANKDD1A):c.270T>G (p.Phe90Leu)	ANKDD1A (F90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411828	NM_182703.6(ANKDD1A):c.281C>T (p.Ala94Val)	ANKDD1A (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496435	NM_182703.6(ANKDD1A):c.284T>C (p.Leu95Pro)	ANKDD1A (L95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120357	NM_182703.6(ANKDD1A):c.314G>A (p.Arg105Gln)	ANKDD1A (R105Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353874	NM_182703.6(ANKDD1A):c.340G>C (p.Gly114Arg)	ANKDD1A (G114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290688	NM_182703.6(ANKDD1A):c.343G>A (p.Ala115Thr)	ANKDD1A (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541874	NM_182703.6(ANKDD1A):c.426C>A (p.Phe142Leu)	ANKDD1A (F142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390538	NM_182703.6(ANKDD1A):c.442G>A (p.Glu148Lys)	ANKDD1A (E148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466416	NM_182703.6(ANKDD1A):c.485C>T (p.Ala162Val)	ANKDD1A (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120373	NM_182703.6(ANKDD1A):c.507C>G (p.His169Gln)	ANKDD1A (H169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374719	NM_182703.6(ANKDD1A):c.629G>A (p.Arg210Gln)	ANKDD1A, LOC125078104 (R210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604300	NM_182703.6(ANKDD1A):c.658G>A (p.Glu220Lys)	ANKDD1A, LOC125078104 (E220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604301	NM_182703.6(ANKDD1A):c.659A>T (p.Glu220Val)	ANKDD1A, LOC125078104 (E220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120384	NM_182703.6(ANKDD1A):c.680C>T (p.Thr227Ile)	ANKDD1A (T227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367064	NM_182703.6(ANKDD1A):c.713C>G (p.Pro238Arg)	ANKDD1A (P238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364855	NM_182703.6(ANKDD1A):c.804T>G (p.Ser268Arg)	ANKDD1A (S268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357283	NM_182703.6(ANKDD1A):c.809C>T (p.Ser270Leu)	ANKDD1A (S270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512671	NM_182703.6(ANKDD1A):c.823C>T (p.Arg275Trp)	ANKDD1A (R275W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588148	NM_182703.6(ANKDD1A):c.829C>G (p.Leu277Val)	ANKDD1A (L277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398767	NM_182703.6(ANKDD1A):c.838G>A (p.Ala280Thr)	ANKDD1A (A280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120403	NM_182703.6(ANKDD1A):c.850G>T (p.Ala284Ser)	ANKDD1A (A284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368592	NM_182703.6(ANKDD1A):c.850G>A (p.Ala284Thr)	ANKDD1A (A284T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645447	NM_182703.6(ANKDD1A):c.915C>T (p.Ala305=)	ANKDD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2519735	NM_182703.6(ANKDD1A):c.985C>T (p.His329Tyr)	ANKDD1A (H329Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120304	NM_182703.6(ANKDD1A):c.1017A>G (p.Ile339Met)	ANKDD1A (I339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120305	NM_182703.6(ANKDD1A):c.1025T>C (p.Met342Thr)	ANKDD1A (M342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120311	NM_182703.6(ANKDD1A):c.1106A>G (p.His369Arg)	ANKDD1A (H369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120314	NM_182703.6(ANKDD1A):c.1126A>C (p.Ile376Leu)	ANKDD1A (I376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527042	NM_182703.6(ANKDD1A):c.1142G>A (p.Arg381His)	ANKDD1A (R381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150666	GRCh38/hg38 15q22.31(chr15:64946408-65006295)x1	ANKDD1A, LOC130057306 +3 more	Copy number loss	See cases	GLikely benign
Select item 3120315	NM_182703.6(ANKDD1A):c.1178C>G (p.Pro393Arg)	ANKDD1A (P393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248352	NM_182703.6(ANKDD1A):c.1213C>T (p.Arg405Trp)	ANKDD1A (R405W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508216	NM_182703.6(ANKDD1A):c.1240G>A (p.Val414Met)	ANKDD1A (V414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563590	NM_182703.6(ANKDD1A):c.1241T>C (p.Val414Ala)	ANKDD1A (V414A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120325	NM_182703.6(ANKDD1A):c.1250G>A (p.Arg417Gln)	ANKDD1A (R417Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357820	NM_182703.6(ANKDD1A):c.1313C>T (p.Thr438Met)	ANKDD1A (T438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483147	NM_182703.6(ANKDD1A):c.1336G>A (p.Glu446Lys)	ANKDD1A (E446K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295685	NM_182703.6(ANKDD1A):c.1382G>A (p.Arg461Gln)	ANKDD1A (R461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120331	NM_182703.6(ANKDD1A):c.1447G>A (p.Glu483Lys)	ANKDD1A (E483K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261513	NM_182703.6(ANKDD1A):c.1453C>T (p.Leu485Phe)	ANKDD1A (L485F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645448	NM_182703.6(ANKDD1A):c.1455C>T (p.Leu485=)	ANKDD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3120338	NM_182703.6(ANKDD1A):c.1462A>C (p.Ile488Leu)	ANKDD1A (I488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980527	GRCh37/hg19 15q22.31(chr15:65221723-65365642)x1	MTFMT, SPG21 +3 more	Copy number loss	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253982	GRCh37/hg19 15q22.31(chr15:64673133-65273595)x3	RBPMS2, ZNF609 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 63