"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PRKCSH"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 631808	NM_001289104.2(PRKCSH):c.-77-2A>C	PRKCSH, LOC130063575	Single nucleotide variant (splice acceptor variant)	Polycystic liver disease 1	GUncertain significance
Select item 890781	NM_001289104.2(PRKCSH):c.37T>C (p.Trp13Arg)	LOC130063575, PRKCSH (W13R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 754953	NM_001289104.2(PRKCSH):c.60C>T (p.Pro20=)	LOC130063575, PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GLikely benign
Select item 1409228	NM_001289104.2(PRKCSH):c.251C>T (p.Pro84Leu)	PRKCSH (P84L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1640028	NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GLikely benign
Select item 1597372	NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GLikely benign
Select item 328171	NM_001289104.2(PRKCSH):c.351-5C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1048653	NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)	PRKCSH (E125fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 1541333	NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 328175	NM_001289104.2(PRKCSH):c.469-10G>A	PRKCSH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1430144	NM_001289104.2(PRKCSH):c.543G>C (p.Glu181Asp)	PRKCSH (E181D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1179126	NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs)	PRKCSH (E189fs)	Microsatellite (frameshift variant)	Polycystic liver disease 1	GLikely pathogenic
Select item 1466436	NM_001289104.2(PRKCSH):c.627G>T (p.Gln209His)	PRKCSH (Q209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 889614	NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GBenign/Likely benign
Select item 1394111	NM_001289104.2(PRKCSH):c.683C>T (p.Thr228Met)	PRKCSH (T228M)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +1 more	GUncertain significance
Select item 1685413	NM_001289104.2(PRKCSH):c.683+1G>A	PRKCSH	Single nucleotide variant (splice donor variant)	Polycystic liver disease 1	GLikely pathogenic
Select item 1546933	NM_001289104.2(PRKCSH):c.683+9C>A	PRKCSH	Single nucleotide variant (intron variant)	Polycystic liver disease 1 +1 more	GBenign/Likely benign
Select item 328180	NM_001289104.2(PRKCSH):c.752C>T (p.Ala251Val)	PRKCSH (A251V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 328181	NM_001289104.2(PRKCSH):c.753G>A (p.Ala251=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GLikely benign
Select item 636894	NM_001289104.2(PRKCSH):c.762+2T>C	PRKCSH	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 328182	NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 328184	NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1255532	NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp)	PRKCSH (R281W)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +1 more	GUncertain significance
Select item 328186	NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu)	PRKCSH (P305L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 759358	NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1553432	NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 328189	NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1483452	NM_001289104.2(PRKCSH):c.1099G>A (p.Asp367Asn)	PRKCSH (D357N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1353128	NM_001289104.2(PRKCSH):c.1283A>C (p.Asn428Thr)	PRKCSH (N421T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 13242	NM_001289104.2(PRKCSH):c.1290C>G (p.Tyr430Ter)	PRKCSH (Y423* +2 more)	Single nucleotide variant (nonsense)	Polycystic liver disease 1 +1 more	GPathogenic/Likely pathogenic
Select item 1669031	NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GBenign/Likely benign
Select item 328195	NM_001289104.2(PRKCSH):c.1392C>T (p.His464=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1627427	NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 328196	NM_001289104.2(PRKCSH):c.1536G>A (p.Glu512=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 890308	NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GLikely benign
Select item 328197	NM_001289104.2(PRKCSH):c.1590C>T (p.Asp530=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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Items: 36