ClinVar for MedGen (Select 1387409) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064443	NM_002742.3(PRKD1):c.265-1G>T	PRKD1	Single nucleotide variant (splice acceptor variant)	Congenital heart defects and ectodermal dysplasia	GLikely pathogenic
Select item 2435246	NM_002742.3(PRKD1):c.1585G>A (p.Ala529Thr)	PRKD1 (A441T +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 2435245	NM_002742.3(PRKD1):c.345G>C (p.Gln115His)	PRKD1 (Q115H +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 2435244	NM_002742.3(PRKD1):c.1061G>A (p.Ser354Asn)	PRKD1 (S266N +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1934696	NM_002742.3(PRKD1):c.1808G>A (p.Arg603His)	PRKD1 (R515H +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1805316	NM_002742.3(PRKD1):c.815C>T (p.Thr272Ile)	PRKD1 (T184I +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1805098	NM_002742.3(PRKD1):c.1874G>T (p.Ser625Ile)	PRKD1 (S537I +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1804122	NM_002742.3(PRKD1):c.1754C>T (p.Pro585Leu)	PRKD1 (P497L +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GBenign
Select item 1698759	NM_002742.3(PRKD1):c.2626C>T (p.Gln876Ter)	PRKD1 (Q788* +2 more)	Single nucleotide variant (nonsense)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1696583	NM_002742.3(PRKD1):c.442G>A (p.Ala148Thr)	PRKD1 (A148T +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1691270	NM_002742.3(PRKD1):c.1905+2T>A	PRKD1	Single nucleotide variant (splice donor variant)	Congenital heart defects and ectodermal dysplasia	GLikely pathogenic
Select item 1327448	NM_002742.3(PRKD1):c.2166+39A>C	PRKD1	Single nucleotide variant (intron variant)	Congenital heart defects and ectodermal dysplasia	GBenign
Select item 1327447	NM_002742.3(PRKD1):c.2167-12T>A	PRKD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327446	NM_002742.3(PRKD1):c.2202T>C (p.Ile734=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1327445	NM_002742.3(PRKD1):c.2435-14G>A	PRKD1	Single nucleotide variant (intron variant)	Congenital heart defects and ectodermal dysplasia	GBenign
Select item 1032084	NM_002742.3(PRKD1):c.445C>G (p.Leu149Val)	PRKD1 (L53V +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1032083	NM_002742.3(PRKD1):c.317A>G (p.His106Arg)	PRKD1 (H106R +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1032082	NM_002742.3(PRKD1):c.2068-11C>A	PRKD1	Single nucleotide variant (intron variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1032081	NM_002742.3(PRKD1):c.1947T>G (p.Phe649Leu)	PRKD1 (F649L +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1032079	NM_002742.3(PRKD1):c.1322G>A (p.Arg441Gln)	PRKD1 (R441Q +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 998171	NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln)	PRKD1 (R652Q +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 982667	NM_002742.3(PRKD1):c.496A>G (p.Met166Val)	PRKD1 (M166V +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 931739	NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg)	PRKD1 (G486R +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia +1 more	GUncertain significance
Select item 803014	NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln)	PRKD1 (R351Q +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GLikely pathogenic
Select item 732997	NM_002742.3(PRKD1):c.1441G>A (p.Ala481Thr)	PRKD1 (A481T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 717322	NM_002742.3(PRKD1):c.265-5T>C	PRKD1	Single nucleotide variant (intron variant)	Congenital heart defects and ectodermal dysplasia +1 more	GBenign/Likely benign
Select item 375741	NM_002742.3(PRKD1):c.896T>G (p.Leu299Trp)	PRKD1 (L299W +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GPathogenic
Select item 375740	NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg)	PRKD1 (G592R +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GPathogenic

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Links from MedGen

Items: 28