"Baylor Genetics"[submitter] AND "PKD1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706224	NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)	PKD1 (R4202fs +1 more)	Deletion (frameshift variant)	PKD1-related disorder +2 more	GPathogenic
Select item 2441901	NM_001009944.3(PKD1):c.11722dup (p.Leu3908fs)	PKD1 (L3907fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1033193	NM_001009944.3(PKD1):c.11565_11571dup (p.Ser3858fs)	PKD1, PKD1-AS1 (S3857fs +1 more)	Duplication (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1033192	NM_001009944.3(PKD1):c.11157-9C>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1030950	NM_001009944.3(PKD1):c.10922C>T (p.Ala3641Val)	PKD1-AS1, PKD1 (A3641V +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1028438	NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys)	PKD1 (R3247C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1028437	NM_001009944.3(PKD1):c.8827G>T (p.Ala2943Ser)	PKD1 (A2943S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1028436	NM_001009944.3(PKD1):c.8716G>A (p.Gly2906Ser)	PKD1 (G2906S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 997204	NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1034359	NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs)	PKD1 (S2682fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 997263	NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val)	PKD1 (L2668V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1030957	NM_001009944.3(PKD1):c.7863+5G>C	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1030956	NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys)	PKD1 (R2469C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 586295	NM_001009944.3(PKD1):c.7210-7C>T	MIR6511B1, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type +1 more	GConflicting classifications of pathogenicity
Select item 1033194	NM_001009944.3(PKD1):c.7061A>C (p.Gln2354Pro)	PKD1 (Q2354P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 431936	NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)	PKD1 (F2132C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 438719	NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr)	PKD1 (A2033T)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 523776	NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)	PKD1 (Q2011*)	Single nucleotide variant (nonsense)	PKD1-related disorder +2 more	GPathogenic
Select item 1030955	NM_001009944.3(PKD1):c.5804G>C (p.Arg1935Pro)	PKD1 (R1935P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1030954	NM_001009944.3(PKD1):c.5637C>A (p.Tyr1879Ter)	PKD1 (Y1879*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1030953	NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val)	PKD1 (A1555V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1030952	NM_001009944.3(PKD1):c.4513G>A (p.Gly1505Ser)	PKD1 (G1505S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1030951	NM_001009944.3(PKD1):c.2421C>G (p.Ser807=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 997539	NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr)	PKD1 (C210Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic

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Items: 25