"Baylor Genetics"[submitter] AND "PKHD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813369	NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)	PKHD1 (Q4026*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 3240147	NM_138694.4(PKHD1):c.11980C>T (p.Gln3994Ter)	PKHD1 (Q3994*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GUncertain significance
Select item 2677808	NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)	PKHD1 (C3982*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GUncertain significance
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 598048	NM_138694.4(PKHD1):c.11785+1_11785+35del	PKHD1	Deletion (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 371506	NM_138694.4(PKHD1):c.11776del (p.Val3926fs)	PKHD1 (V3926fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 2677847	NM_138694.4(PKHD1):c.11770del (p.Thr3924fs)	PKHD1 (T3924fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 597072	NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	PKHD1 (S3916*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 554930	NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)	PKHD1 (R3914*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 2677863	NM_138694.4(PKHD1):c.11666-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	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 860404	NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)	PKHD1 (L3877fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 458588	NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)	PKHD1 (W3871*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
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 3240142	NM_138694.4(PKHD1):c.11600del (p.Ser3867fs)	PKHD1 (S3867fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 188754	NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)	PKHD1 (R3842*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 2677785	NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)	PKHD1	Deletion (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 1072350	NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)	PKHD1 (C3801*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 813371	NM_138694.4(PKHD1):c.11399-1G>A	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2677805	NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter)	PKHD1 (S3796*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2677864	NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter)	PKHD1 (W3784*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 3240140	NM_138694.4(PKHD1):c.11313_11317del	PKHD1	Deletion (splice acceptor variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 370289	NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)	PKHD1 (R3772*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 1030193	NM_138694.4(PKHD1):c.11310+3A>G	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1521234	NM_138694.4(PKHD1):c.11310+1G>C	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 3240130	NM_138694.4(PKHD1):c.11308C>T (p.Gln3770Ter)	PKHD1 (Q3770*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 558729	NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)	PKHD1 (P3762T)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 2677778	NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter)	PKHD1 (Q3761*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 556915	NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs)	PKHD1 (I3738fs)	Microsatellite (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
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 593691	NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	PKHD1 (R3692*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 2677803	NM_138694.4(PKHD1):c.11026G>T (p.Gly3676Ter)	PKHD1 (G3676*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GPathogenic
Select item 371152	NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)	PKHD1 (I3658fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 2677868	NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs)	PKHD1 (M3653fs)	Insertion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 633361	NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)	PKHD1 (P3652fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 3240127	NM_138694.4(PKHD1):c.10940dup (p.His3647fs)	PKHD1 (H3647fs)	Duplication (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2859745	NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)	PKHD1 (S3646*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 929253	NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)	PKHD1 (R3620fs)	Microsatellite (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 552098	NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)	PKHD1 (K3619fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 553654	NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)	PKHD1 (R3618fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 633362	NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)	PKHD1 (Q3589*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 1400515	NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs)	PKHD1 (N3586fs)	Microsatellite (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 1255540	NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter)	PKHD1 (W3576*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2677784	NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs)	PKHD1 (G3575fs)	Duplication (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 4113	NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)	PKHD1 (I3553T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1938644	NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)	PKHD1 (E3550fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 279874	NM_138694.4(PKHD1):c.10637del (p.Val3546fs)	PKHD1 (V3546fs)	Deletion (frameshift variant)	See cases +3 more	GPathogenic
Select item 813372	NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)	PKHD1 (L3543fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3240134	NM_138694.4(PKHD1):c.10481_10503del (p.Leu3494fs)	PKHD1 (L3494fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 189084	NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)	PKHD1 (L3485fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 188896	NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	PKHD1 (R3482C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3240125	NM_138694.4(PKHD1):c.10426C>T (p.Gln3476Ter)	PKHD1 (Q3476*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 4115	NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)	PKHD1 (V3471G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2677874	NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter)	PKHD1 (Q3467*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2711212	NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs)	PKHD1 (I3465fs)	Insertion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 2677811	NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs)	PKHD1 (I3462fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1365742	NM_138694.4(PKHD1):c.10334del (p.Asn3445fs)	PKHD1 (N3445fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 1806325	NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)	PKHD1 (D3439Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 2677817	NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter)	PKHD1 (W3422*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
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 488579	NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	PKHD1 (Q3392*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +3 more	GPathogenic
Select item 2677879	NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs)	PKHD1 (A3380fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 550477	NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)	PKHD1 (T3379fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 2677855	NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs)	PKHD1 (E3375fs)	Microsatellite (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 371184	NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	PKHD1 (F3371fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 557530	NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)	PKHD1 (L3353R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
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 96365	NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)	PKHD1 (L3344*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 555692	NM_138694.4(PKHD1):c.9998+1G>T	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 633353	NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)	PKHD1 (R3333T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 2677878	NM_138694.4(PKHD1):c.9974del (p.Phe3325fs)	PKHD1 (F3325fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1034261	NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu)	PKHD1 (K3324E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 2677772	NM_138694.4(PKHD1):c.9969del (p.Asn3323fs)	PKHD1 (N3323fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2677809	NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)	PKHD1 (R3313fs)	Microsatellite (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 370453	NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	PKHD1 (E3301*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 2677829	NM_138694.4(PKHD1):c.9830-18_9842del	PKHD1	Deletion (splice acceptor variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2677806	NM_138694.4(PKHD1):c.9830-1G>A	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1068071	NM_138694.4(PKHD1):c.9830-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 2415604	NM_138694.4(PKHD1):c.9829+1dup	PKHD1	Duplication (splice donor variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely pathogenic
Select item 591918	NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)	PKHD1 (I3243fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 572902	NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	PKHD1 (R3240Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 167478	NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)	PKHD1 (R3240L)	Single nucleotide variant (missense variant)	PKHD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 370548	NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)	PKHD1 (R3240*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely 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 2677777	NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs)	PKHD1 (K3218fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 528297	NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)	PKHD1 (Q3216*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 2677885	NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)	PKHD1 (K3195fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2677823	NM_138694.4(PKHD1):c.9568C>T (p.Gln3190Ter)	PKHD1 (Q3190*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GPathogenic
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 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 3240153	NM_138694.4(PKHD1):c.9476T>G (p.Leu3159Ter)	PKHD1 (L3159*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1347236	NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)	PKHD1 (Y3155C)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 2677861	NM_138694.4(PKHD1):c.9455del (p.Asn3152fs)	PKHD1 (N3152fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GPathogenic
Select item 555142	NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)	PKHD1 (H3124Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 2677816	NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter)	PKHD1 (W3118*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 2677876	NM_138694.4(PKHD1):c.9345del (p.Glu3115fs)	PKHD1 (E3115fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1458661	NM_138694.4(PKHD1):c.9338del (p.Ser3113fs)	PKHD1 (S3113fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 189090	NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	PKHD1 (R3107*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 2571802	NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)	PKHD1 (G3103D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 432135	NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)	PKHD1 (S3099*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic

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