DAPK3[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 3080091	NM_001348.3(DAPK3):c.1328A>G (p.Gln443Arg)	DAPK3 (Q443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270885	NM_001348.3(DAPK3):c.1312G>A (p.Val438Met)	DAPK3 (V438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514668	NM_001348.3(DAPK3):c.1235G>T (p.Arg412Leu)	DAPK3 (R412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279488	NM_001348.3(DAPK3):c.1234C>A (p.Arg412Ser)	DAPK3 (R412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247171	NM_001348.3(DAPK3):c.1222G>T (p.Gly408Cys)	DAPK3 (G408C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351385	NM_001348.3(DAPK3):c.1193A>C (p.Glu398Ala)	DAPK3 (E398A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080090	NM_001348.3(DAPK3):c.1183G>C (p.Ala395Pro)	DAPK3 (A395P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463787	NM_001348.3(DAPK3):c.1169C>T (p.Ala390Val)	DAPK3 (A390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355324	NM_001348.3(DAPK3):c.1136G>C (p.Arg379Pro)	DAPK3 (R379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080089	NM_001348.3(DAPK3):c.1118G>A (p.Ser373Asn)	DAPK3 (S373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259122	NM_001348.3(DAPK3):c.1085A>C (p.Glu362Ala)	DAPK3 (E362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597373	NM_001348.3(DAPK3):c.1051G>A (p.Glu351Lys)	DAPK3 (E351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214137	NM_001348.3(DAPK3):c.995C>A (p.Ala332Glu)	DAPK3 (A332E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270882	NM_001348.3(DAPK3):c.982G>A (p.Val328Met)	DAPK3 (V328M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372416	NM_001348.3(DAPK3):c.977C>T (p.Ser326Phe)	DAPK3 (S326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270879	NM_001348.3(DAPK3):c.902G>A (p.Arg301His)	DAPK3 (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464348	NM_001348.3(DAPK3):c.877G>C (p.Glu293Gln)	DAPK3 (E293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080094	NM_001348.3(DAPK3):c.866G>A (p.Gly289Asp)	DAPK3 (G289D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270877	NM_001348.3(DAPK3):c.864C>G (p.Ser288Arg)	DAPK3 (S288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080093	NM_001348.3(DAPK3):c.758G>T (p.Arg253Leu)	DAPK3 (R253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270884	NM_001348.3(DAPK3):c.607A>G (p.Ile203Val)	DAPK3 (I203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733490	NM_001348.3(DAPK3):c.594G>A (p.Ala198=)	DAPK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270876	NM_001348.3(DAPK3):c.577C>T (p.Pro193Ser)	DAPK3 (P193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355540	NM_001348.3(DAPK3):c.509C>T (p.Ala170Val)	DAPK3 (A170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270880	NM_001348.3(DAPK3):c.401G>A (p.Arg134His)	DAPK3 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270883	NM_001348.3(DAPK3):c.388C>A (p.Leu130Met)	DAPK3 (L130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382843	NM_001348.3(DAPK3):c.373G>A (p.Asp125Asn)	DAPK3 (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080092	NM_001348.3(DAPK3):c.256A>G (p.Lys86Glu)	DAPK3 (K86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270878	NM_001348.3(DAPK3):c.214C>T (p.Arg72Trp)	DAPK3 (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243785	NM_001348.3(DAPK3):c.155G>T (p.Ser52Ile)	DAPK3 (S52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 3062379	GRCh37/hg19 19p13.3(chr19:3794098-4036681)x1	ATCAY, DAPK3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340292	GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1	ANKRD24, ATCAY +10 more	Copy number loss	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 59