"MVZ Medizinische Genetik Mainz"[submitter] AND "PKHD1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236034	NM_138694.4(PKHD1):c.10853del (p.Arg3618fs)	PKHD1 (R3618fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GPathogenic
Select item 3236117	NM_138694.4(PKHD1):c.10067A>T (p.Asp3356Val)	PKHD1 (D3356V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3256664	NM_138694.4(PKHD1):c.7275dup (p.Gly2426fs)	PKHD1 (G2426fs)	Duplication (frameshift variant)	Polycystic kidney disease 4	GPathogenic
Select item 3235223	NM_138694.4(PKHD1):c.6323C>A (p.Ser2108Ter)	PKHD1 (S2108*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 3256642	NM_138694.4(PKHD1):c.6122-22A>G	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3338384	NM_138694.4(PKHD1):c.4427G>A (p.Cys1476Tyr)	PKHD1 (C1476Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3256620	NM_138694.4(PKHD1):c.4170del (p.Arg1390_Ile1391insTer)	PKHD1	Deletion (frameshift variant)	Polycystic kidney disease 4	GPathogenic
Select item 3236069	NM_138694.4(PKHD1):c.2721del (p.Val908fs)	PKHD1 (V908fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GPathogenic
Select item 3236004	NM_138694.4(PKHD1):c.2573A>T (p.Asp858Val)	PKHD1 (D858V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3061858	NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)	PKHD1 (W428*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GPathogenic/Likely pathogenic
Select item 3338394	NM_138694.4(PKHD1):c.1139T>C (p.Phe380Ser)	PKHD1 (F380S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3066380	NM_138694.4(PKHD1):c.926G>C (p.Cys309Ser)	PKHD1 (C309S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3236208	NM_138694.4(PKHD1):c.907T>C (p.Ser303Pro)	PKHD1 (S303P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance