"3billion"[submitter] AND "PKHD1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813370	NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)	PKHD1 (W3871R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 1333714	NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs)	PKHD1 (N3771fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1526168	NM_138694.4(PKHD1):c.9693A>C (p.Arg3231Ser)	PKHD1 (R3231S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1333527	NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu)	PKHD1 (P2659L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 189143	NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	PKHD1 (S2639*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 1687155	NM_138694.4(PKHD1):c.7394G>A (p.Trp2465Ter)	PKHD1 (W2465*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1687608	NM_138694.4(PKHD1):c.6898A>G (p.Asn2300Asp)	PKHD1 (N2300D)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 939818	NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)	PKHD1 (W2280*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 2444187	NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)	LOC126859690, PKHD1 (W1725S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 636692	NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)	PKHD1 (G1180E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 632491	NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	PKHD1 (V836A)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 189100	NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)	PKHD1 (Y610*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 528296	NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	PKHD1 (R375W)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 286684	NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	PKHD1 (R92W)	Single nucleotide variant (missense variant)	PKHD1-related disorder +3 more	GConflicting classifications of pathogenicity