"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRKCSH"[g - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224193	NM_001289104.2(PRKCSH):c.-78+38T>C	ODAD3, PRKCSH (K10E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 30 +2 more	GBenign
Select item 3040071	NM_001289104.2(PRKCSH):c.-78+74G>A	ODAD3, PRKCSH	Single nucleotide variant (5 prime UTR variant +1 more)	ODAD3-related disorder	GLikely benign
Select item 94077	NM_001289104.2(PRKCSH):c.79+10_79+12del	PRKCSH	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 3038567	NM_001289104.2(PRKCSH):c.156C>T (p.Asn52=)	PRKCSH	Single nucleotide variant (synonymous variant)	PRKCSH-related disorder	GLikely benign
Select item 1597372	NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=)	PRKCSH	Single nucleotide variant (synonymous variant)	PRKCSH-related disorder +2 more	GLikely benign
Select item 258794	NM_001289104.2(PRKCSH):c.350+10T>C	PRKCSH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1048653	NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)	PRKCSH (E125fs)	Microsatellite (frameshift variant)	Polycystic liver disease 1 +1 more	GPathogenic
Select item 258795	NM_001289104.2(PRKCSH):c.405C>T (p.Arg135=)	PRKCSH	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 258796	NM_001289104.2(PRKCSH):c.549T>C (p.Ala183=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 328176	NM_001289104.2(PRKCSH):c.628G>A (p.Glu210Lys)	PRKCSH (E210K)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 736306	NM_001289104.2(PRKCSH):c.822C>T (p.Ala274=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 94078	NM_001289104.2(PRKCSH):c.850-14T>C	PRKCSH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2191182	NM_001289104.2(PRKCSH):c.861C>T (p.Thr287=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 94079	NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr)	PRKCSH (A291T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 328187	NM_001289104.2(PRKCSH):c.930G>A (p.Ser310=)	PRKCSH	Single nucleotide variant (synonymous variant)	PRKCSH-related disorder +2 more	GBenign/Likely benign
Select item 94081	NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del)	PRKCSH (E325del)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 258791	NM_001289104.2(PRKCSH):c.1286+14A>G	PRKCSH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 258792	NM_001289104.2(PRKCSH):c.1359T>C (p.Leu453=)	PRKCSH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 258793	NM_001289104.2(PRKCSH):c.1378A>G (p.Ile460Val)	PRKCSH (I453V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2193499	NM_001289104.2(PRKCSH):c.1386C>T (p.Pro462=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2903775	NM_001289104.2(PRKCSH):c.1545G>A (p.Thr515=)	PRKCSH	Single nucleotide variant (synonymous variant)	PRKCSH-related disorder +1 more	GLikely benign
Select item 2185106	NM_001289104.2(PRKCSH):c.1569G>A (p.Pro523=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 22