"Revvity Omics, Revvity"[submitter] AND "PKHD1"[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216821	NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)	PKHD1 (L4037P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 551016	NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)	PKHD1 (R3961*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 2689755	NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)	PKHD1 (M3947T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 593996	NM_138694.4(PKHD1):c.11786-3C>A	PKHD1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 2690676	NM_138694.4(PKHD1):c.11770_11771dup (p.Val3925fs)	PKHD1 (V3925fs)	Microsatellite (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 800788	NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)	PKHD1 (Q3899*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 555624	NM_138694.4(PKHD1):c.11665+1G>A	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 2434885	NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)	PKHD1 (P3783A)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 2434880	NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)	PKHD1 (R3692Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 2689759	NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)	PKHD1 (M3644I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 2690674	NM_138694.4(PKHD1):c.10845_10846dup (p.Ala3616fs)	PKHD1 (A3616fs)	Microsatellite (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 198315	NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)	PKHD1 (E3582K)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 279874	NM_138694.4(PKHD1):c.10637del (p.Val3546fs)	PKHD1 (V3546fs)	Deletion (frameshift variant)	See cases +3 more	GPathogenic
Select item 2689756	NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)	PKHD1 (Q3479R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 198306	NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	PKHD1 (C3346R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1498912	NM_138694.4(PKHD1):c.9999-1G>A	PKHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely pathogenic
Select item 1324920	NM_138694.4(PKHD1):c.9907del (p.Ser3303fs)	PKHD1 (S3303fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 96444	NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)	PKHD1 (D3230fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic
Select item 550124	NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)	PKHD1 (S3210C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 2434878	NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)	PKHD1 (I3205T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 208604	NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)	PKHD1 (S3187fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 2690675	NM_138694.4(PKHD1):c.8932del (p.Ser2978fs)	PKHD1 (S2978fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1323461	NM_138694.4(PKHD1):c.8554+1G>A	PKHD1	Single nucleotide variant (splice donor variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 1323459	NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)	PKHD1 (W2736fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic
Select item 1323463	NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter)	PKHD1 (W2690*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GPathogenic
Select item 4112	NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)	PKHD1 (R2671*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2432633	NM_138694.4(PKHD1):c.7487-1G>C	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2434883	NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)	PKHD1 (A2484S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1709703	NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)	PKHD1 (L2467P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 406887	NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)	PKHD1 (C2422G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 2434884	NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)	PKHD1 (C2368F)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 500968	NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)	PKHD1 (I2364N)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 1324917	NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro)	PKHD1 (T2318P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 597249	NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA	PKHD1	Indel (splice acceptor variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 2689758	NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)	PKHD1 (L2104R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 2434881	NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)	PKHD1 (G1993C)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 974450	NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)	PKHD1 (I1968S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 167486	NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)	PKHD1 (L1966fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 434018	NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)	PKHD1 (D1942G)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 96413	NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +3 more	GUncertain significance
Select item 2432638	NM_138694.4(PKHD1):c.5151del (p.Gly1718fs)	LOC126859690, PKHD1 (G1718fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 196807	NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	PKHD1, LOC126859690 (I1687T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 1323462	NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)	LOC126859690, PKHD1 (Q1665*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic
Select item 188369	NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	LOC126859690, PKHD1 (R1624W)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 96404	NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)	PKHD1 (C1472fs)	Indel (frameshift variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic
Select item 500894	NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)	PKHD1 (P1284L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 911088	NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val)	PKHD1 (A1245V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 948525	NM_138694.4(PKHD1):c.3561-1G>A	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 96395	NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)	PKHD1 (R1081C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 950724	NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)	PKHD1 (R1040*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 2434887	NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 1071998	NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)	PKHD1 (M997K)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 1324919	NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter)	PKHD1 (G952*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 458592	NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)	PKHD1 (W937*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 215967	NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)	PKHD1 (R909Q)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 167491	NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)	PKHD1 (R909*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic
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 96390	NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)	PKHD1 (Q818*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 1324918	NM_138694.4(PKHD1):c.2188delinsTA (p.Glu730Ter)	PKHD1 (E730*)	Indel (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 195701	NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)	PKHD1 (R723C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 497603	NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)	PKHD1 (M638T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2689757	NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)	PKHD1 (G634S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 2434882	NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)	PKHD1 (C583S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 592200	NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe)	PKHD1 (S522F)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 555789	NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)	PKHD1 (G466E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 2434886	NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)	PKHD1 (K411E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 593694	NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)	PKHD1 (H401N)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
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 2690677	NM_138694.4(PKHD1):c.1119-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2434879	NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)	PKHD1 (C309R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 406891	NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	PKHD1 (I222V)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 596107	NM_138694.4(PKHD1):c.528-17dup	PKHD1	Duplication (intron variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 1323460	NM_138694.4(PKHD1):c.470dup (p.Trp158fs)	PKHD1 (W158fs)	Duplication (frameshift variant)	Polycystic kidney disease 4	GPathogenic
Select item 96397	NM_138694.4(PKHD1):c.353del (p.Ser118fs)	PKHD1 (S118fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 96435	NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)	PKHD1 (E29*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 75