ClinVar for MedGen (Select 1387409) - ClinVar

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Items: 27

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24352461.	NM_002742.3(PRKD1):c.1585G>A (p.Ala529Thr) GRCh37: Chr14:30100035 GRCh38: Chr14:29630829	PRKD1	A441T, A529T, A537T	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 24352452.	NM_002742.3(PRKD1):c.345G>C (p.Gln115His) GRCh37: Chr14:30194800 GRCh38: Chr14:29725594	PRKD1	Q115H, Q19H	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Sep 5, 2019)	criteria provided, single submitter
Select item 24352443.	NM_002742.3(PRKD1):c.1061G>A (p.Ser354Asn) GRCh37: Chr14:30105625 GRCh38: Chr14:29636419	PRKD1	S266N, S354N, S362N	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 19346964.	NM_002742.3(PRKD1):c.1808G>A (p.Arg603His) GRCh37: Chr14:30093455 GRCh38: Chr14:29624249	PRKD1	R515H, R603H, R611H	Congenital heart defects and ectodermal dysplasia, not provided	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18053165.	NM_002742.3(PRKD1):c.815C>T (p.Thr272Ile) GRCh37: Chr14:30107992 GRCh38: Chr14:29638786	PRKD1	T184I, T272I, T280I	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 18050986.	NM_002742.3(PRKD1):c.1874G>T (p.Ser625Ile) GRCh37: Chr14:30093389 GRCh38: Chr14:29624183	PRKD1	S537I, S625I, S633I	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 18041227.	NM_002742.3(PRKD1):c.1754C>T (p.Pro585Leu) GRCh37: Chr14:30095734 GRCh38: Chr14:29626528	PRKD1	P497L, P585L, P593L	Congenital heart defects and ectodermal dysplasia	Benign (Nov 11, 2022)	criteria provided, single submitter
Select item 16987598.	NM_002742.3(PRKD1):c.2626C>T (p.Gln876Ter) GRCh37: Chr14:30046557 GRCh38: Chr14:29577351	PRKD1	Q788, Q876, Q884*	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Apr 3, 2020)	criteria provided, single submitter
Select item 16965839.	NM_002742.3(PRKD1):c.442G>A (p.Ala148Thr) GRCh37: Chr14:30135376 GRCh38: Chr14:29666170	PRKD1	A148T, A52T	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 169127010.	NM_002742.3(PRKD1):c.1905+2T>A GRCh37: Chr14:30093356 GRCh38: Chr14:29624150	PRKD1		Congenital heart defects and ectodermal dysplasia	Likely pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 132744811.	NM_002742.3(PRKD1):c.2166+39A>C GRCh37: Chr14:30068194 GRCh38: Chr14:29598988	PRKD1		Congenital heart defects and ectodermal dysplasia	Benign (Oct 25, 2021)	criteria provided, single submitter
Select item 132744712.	NM_002742.3(PRKD1):c.2167-12T>A GRCh37: Chr14:30066976 GRCh38: Chr14:29597770	PRKD1		not provided, Congenital heart defects and ectodermal dysplasia	Benign (Jan 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132744613.	NM_002742.3(PRKD1):c.2202T>C (p.Ile734=) GRCh37: Chr14:30066929 GRCh38: Chr14:29597723	PRKD1		Congenital heart defects and ectodermal dysplasia, not provided	Benign (Jan 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132744514.	NM_002742.3(PRKD1):c.2435-14G>A GRCh37: Chr14:30047580 GRCh38: Chr14:29578374	PRKD1		Congenital heart defects and ectodermal dysplasia	Benign (Oct 25, 2021)	criteria provided, single submitter
Select item 103208415.	NM_002742.3(PRKD1):c.445C>G (p.Leu149Val) GRCh37: Chr14:30135373 GRCh38: Chr14:29666167	PRKD1	L53V, L149V	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Apr 19, 2018)	criteria provided, single submitter
Select item 103208316.	NM_002742.3(PRKD1):c.317A>G (p.His106Arg) GRCh37: Chr14:30194828 GRCh38: Chr14:29725622	PRKD1	H106R, H10R	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Oct 11, 2018)	criteria provided, single submitter
Select item 103208217.	NM_002742.3(PRKD1):c.2068-11C>A GRCh37: Chr14:30068342 GRCh38: Chr14:29599136	PRKD1		Congenital heart defects and ectodermal dysplasia	Uncertain significance (Feb 26, 2018)	criteria provided, single submitter
Select item 103208118.	NM_002742.3(PRKD1):c.1947T>G (p.Phe649Leu) GRCh37: Chr14:30068982 GRCh38: Chr14:29599776	PRKD1	F649L, F561L, F657L	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Jul 29, 2018)	criteria provided, single submitter
Select item 103207919.	NM_002742.3(PRKD1):c.1322G>A (p.Arg441Gln) GRCh37: Chr14:30102145 GRCh38: Chr14:29632939	PRKD1	R441Q, R449Q, R353Q	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Mar 22, 2018)	criteria provided, single submitter
Select item 99817120.	NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln) GRCh37: Chr14:30066912 GRCh38: Chr14:29597706	PRKD1	R652Q, R740Q, R748Q	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98266721.	NM_002742.3(PRKD1):c.496A>G (p.Met166Val) GRCh37: Chr14:30135322 GRCh38: Chr14:29666116	PRKD1	M166V, M70V	Congenital heart defects and ectodermal dysplasia	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 93173922.	NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg) GRCh37: Chr14:30100164 GRCh38: Chr14:29630958	PRKD1	G486R, G494R, G398R	Congenital heart defects and ectodermal dysplasia, Inborn genetic diseases	Uncertain significance (Dec 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80301423.	NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln) GRCh37: Chr14:30102151 GRCh38: Chr14:29632945	PRKD1	R351Q, R447Q, R439Q	Congenital heart defects and ectodermal dysplasia	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 73299724.	NM_002742.3(PRKD1):c.1441G>A (p.Ala481Thr) GRCh37: Chr14:30100179 GRCh38: Chr14:29630973	PRKD1	A481T, A393T, A489T	Congenital heart defects and ectodermal dysplasia, not provided	Likely benign (Sep 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 71732225.	NM_002742.3(PRKD1):c.265-5T>C GRCh37: Chr14:30194885 GRCh38: Chr14:29725679	PRKD1		Congenital heart defects and ectodermal dysplasia, not provided	Benign/Likely benign (Aug 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37574126.	NM_002742.3(PRKD1):c.896T>G (p.Leu299Trp) GRCh37: Chr14:30107911 GRCh38: Chr14:29638705	PRKD1	L299W, L307W, L211W	Congenital heart defects and ectodermal dysplasia	Pathogenic (Feb 24, 2017)	no assertion criteria provided
Select item 37574027.	NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg) GRCh37: Chr14:30095714 GRCh38: Chr14:29626508	PRKD1	G592R, G600R, G504R	Congenital heart defects and ectodermal dysplasia	Pathogenic (Feb 24, 2017)	no assertion criteria provided

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Items: 27