"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PKHD1"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198368	NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)	PKHD1 (Y4009*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 978804	NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)	PKHD1 (L3746P)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 2683655	NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)	PKHD1 (Q3697*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3379678	NM_138694.4(PKHD1):c.11074C>G (p.Arg3692Gly)	PKHD1 (R3692G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497601	NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)	PKHD1 (D3668Y)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 2065726	NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)	PKHD1 (M3653V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3306991	NM_138694.4(PKHD1):c.10952C>A (p.Pro3651His)	PKHD1 (P3651H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 291149	NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn)	PKHD1 (H3562N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3379680	NM_138694.4(PKHD1):c.10340A>G (p.Asn3447Ser)	PKHD1 (N3447S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198314	NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	PKHD1 (Q3407*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic
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 167475	NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	PKHD1 (S3289I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 996152	NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile)	PKHD1 (T3208I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 458608	NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)	PKHD1 (V3185I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 377018	NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	PKHD1 (I3177T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 501331	NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)	PKHD1 (I3081V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 547884	NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg)	PKHD1 (G3026R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1693916	NM_138694.4(PKHD1):c.9071G>A (p.Cys3024Tyr)	PKHD1 (C3024Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163267	NM_138694.4(PKHD1):c.8461del (p.Glu2821fs)	PKHD1 (E2821fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 96431	NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	PKHD1 (G2782A)	Single nucleotide variant (missense variant)	Caroli disease +3 more	GConflicting classifications of pathogenicity
Select item 96425	NM_138694.4(PKHD1):c.7912-5T>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 3379681	NM_138694.4(PKHD1):c.7777A>C (p.Ser2593Arg)	PKHD1 (S2593R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163268	NM_138694.4(PKHD1):c.7487-8A>G	PKHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 197555	NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)	PKHD1 (T2436I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197475	NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)	PKHD1 (G2285E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 569934	NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)	PKHD1 (C2247W)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 2143283	NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)	PKHD1 (L2244V)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GUncertain significance
Select item 197020	NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys)	PKHD1 (E2001K)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GUncertain significance
Select item 862704	NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)	PKHD1 (D1944N)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 1088397	NM_138694.4(PKHD1):c.5777G>A (p.Arg1926Gln)	PKHD1 (R1926Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3379682	NM_138694.4(PKHD1):c.5768A>G (p.Gln1923Arg)	PKHD1 (Q1923R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96412	NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)	PKHD1 (R1911C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 520590	NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly)	PKHD1 (E1805G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2136416	NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)	LOC126859690, PKHD1 (G1746S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 286651	NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	LOC126859690, PKHD1 (G1712R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 262404	NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)	LOC126859690, PKHD1 (L1709F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 596768	NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly)	PKHD1 (R1505G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 289885	NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)	PKHD1 (E1483K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3381009	NM_138694.4(PKHD1):c.4435_4436del (p.Phe1479fs)	PKHD1 (F1479fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2682928	NM_138694.4(PKHD1):c.3874A>T (p.Thr1292Ser)	PKHD1 (T1292S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96398	NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)	PKHD1 (A1254fs)	Indel	not provided +2 more	GPathogenic
Select item 857034	NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter)	PKHD1 (W1158*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 595351	NM_138694.4(PKHD1):c.3452C>T (p.Pro1151Leu)	PKHD1 (P1151L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 592317	NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr)	PKHD1 (I1110T)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 2682929	NM_138694.4(PKHD1):c.3026C>G (p.Thr1009Ser)	PKHD1 (T1009S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289890	NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)	PKHD1 (G942A)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 1693917	NM_138694.4(PKHD1):c.2822A>T (p.Asp941Val)	PKHD1 (D941V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377354	NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)	PKHD1 (P805L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 96387	NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	PKHD1 (R781*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 695490	NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)	PKHD1 (R606W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 633358	NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	PKHD1 (R592*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 406883	NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp)	PKHD1 (G573W)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GUncertain significance
Select item 291029	NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)	PKHD1 (R559Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1135629	NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg)	PKHD1 (K548R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 290975	NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)	PKHD1 (R312Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502343	NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)	PKHD1 (R312W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 971695	NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly)	PKHD1 (S247G)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 498018	NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)	PKHD1 (D220N)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 199185	NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)	PKHD1 (E218K)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
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 289883	NM_138694.4(PKHD1):c.281+3A>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 3379683	NM_138694.4(PKHD1):c.274C>G (p.Arg92Gly)	PKHD1 (R92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197367	NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)	PKHD1 (N53S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 4108	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1 (T36M)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +7 more	GPathogenic/Likely pathogenic

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Items: 66