"Counsyl"[submitter] AND "PKHD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550648	NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu)	PKHD1 (P4067L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 555598	NM_138694.4(PKHD1):c.12166del (p.Ala4056fs)	PKHD1 (A4056fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 553964	NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter)	PKHD1 (C4054*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 551131	NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter)	PKHD1 (Q4040*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 553523	NM_138694.4(PKHD1):c.12099del (p.Gln4034fs)	PKHD1 (Q4034fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
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 551170	NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del)	PKHD1	Deletion (inframe_deletion)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 554659	NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del)	PKHD1 (G3985del)	Deletion (inframe_deletion)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 558014	NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del)	PKHD1	Deletion (inframe_deletion)	Autosomal recessive polycystic kidney disease	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 554923	NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys)	PKHD1 (R3957C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 555061	NM_138694.4(PKHD1):c.11786-2del	PKHD1	Deletion (splice acceptor variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 555060	NM_138694.4(PKHD1):c.11785+1G>T	PKHD1	Single nucleotide variant (splice donor variant)	Autosomal recessive polycystic kidney disease	GPathogenic/Likely pathogenic
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 554663	NM_138694.4(PKHD1):c.11774_11775del (p.Val3925fs)	PKHD1 (V3925fs)	Microsatellite (frameshift variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
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 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 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 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 550299	NM_138694.4(PKHD1):c.11507-7G>A	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GConflicting classifications of pathogenicity
Select item 555173	NM_138694.4(PKHD1):c.11438del (p.Phe3813fs)	PKHD1 (F3813fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 554611	NM_138694.4(PKHD1):c.11330del (p.Leu3777fs)	PKHD1 (L3777fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	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 556082	NM_138694.4(PKHD1):c.11311-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive polycystic kidney disease	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 551464	NM_138694.4(PKHD1):c.11276del (p.Pro3759fs)	PKHD1 (P3759fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 553997	NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)	PKHD1 (P3740S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
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 556400	NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs)	PKHD1 (T3716fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
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 550460	NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr)	PKHD1 (M3642T)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 96368	NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)	PKHD1 (R3637C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 558349	NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer)	PKHD1	Microsatellite (nonsense)	Autosomal recessive polycystic kidney disease	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 370644	NM_138694.4(PKHD1):c.10826del (p.Lys3609fs)	PKHD1 (K3609fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 550753	NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer)	PKHD1	Deletion (nonsense)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 370246	NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)	PKHD1 (S3570*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease	GPathogenic/Likely 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 96367	NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)	PKHD1 (E3529Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 553354	NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe)	PKHD1 (S3524F)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 557624	NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs)	PKHD1 (Q3521fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 552217	NM_138694.4(PKHD1):c.10524CTT[1] (p.Phe3509del)	PKHD1 (F3509del)	Microsatellite (inframe_deletion)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 551553	NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs)	PKHD1 (F3509fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 553147	NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val)	PKHD1 (E3502V)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 371508	NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs)	PKHD1 (N3488fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease	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 370876	NM_138694.4(PKHD1):c.10418del (p.Phe3473fs)	PKHD1 (F3473fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 554145	NM_138694.4(PKHD1):c.10411del (p.Val3471fs)	PKHD1 (V3471fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GPathogenic/Likely pathogenic
Select item 557171	NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp)	PKHD1 (V3440D)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 371409	NM_138694.4(PKHD1):c.10199dup (p.Met3400fs)	PKHD1 (M3400fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 557338	NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer)	PKHD1	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 371268	NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs)	PKHD1 (Y3396fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 555954	NM_138694.4(PKHD1):c.10156+22398A>G	PKHD1	Single nucleotide variant (stop lost +1 more)	Autosomal recessive polycystic kidney disease	GLikely benign
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 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 553129	NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)	PKHD1 (G3363fs)	Indel (frameshift variant)	Polycystic kidney disease 4 +1 more	GLikely 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 551074	NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs)	PKHD1 (C3346fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GPathogenic/Likely pathogenic
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 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 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 371547	NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter)	PKHD1 (C3287*)	Duplication (nonsense)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 370678	NM_138694.4(PKHD1):c.9743del (p.Phe3248fs)	PKHD1 (F3248fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
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 357415	NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)	PKHD1 (N3235K)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 370381	NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)	PKHD1 (S3228*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease	GPathogenic/Likely pathogenic
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 555379	NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del)	PKHD1 (K3195del)	Deletion (inframe_deletion)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 556510	NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs)	PKHD1 (G3178fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 550173	NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser)	PKHD1 (N3175S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GUncertain significance
Select item 96443	NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 370339	NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs)	PKHD1 (M3158fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 167479	NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	PKHD1 (D3139Y)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 551663	NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)	PKHD1 (H3124P)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GConflicting classifications of pathogenicity
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 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 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 550564	NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer)	PKHD1	Deletion (nonsense)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 558358	NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)	PKHD1 (L3020P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 371587	NM_138694.4(PKHD1):c.8958del (p.Gln2987fs)	PKHD1 (Q2987fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 555753	NM_138694.4(PKHD1):c.8950+1G>T	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 557385	NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu)	PKHD1 (S2983L)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 556643	NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)	PKHD1 (C2965R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GConflicting classifications of pathogenicity
Select item 554617	NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly)	PKHD1 (D2962G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 371402	NM_138694.4(PKHD1):c.8832del (p.Arg2945fs)	PKHD1 (R2945fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 96439	NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)	PKHD1 (R2942*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 552743	NM_138694.4(PKHD1):c.8799_8801dup (p.Gly2933_Ser2934insArg)	PKHD1	Duplication (inframe_insertion)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 554927	NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp)	PKHD1 (R2930W)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 370457	NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)	PKHD1 (R2922fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely pathogenic
Select item 553198	NM_138694.4(PKHD1):c.8741AAG[3] (p.Glu2915dup)	PKHD1	Microsatellite (inframe_insertion)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 550537	NM_138694.4(PKHD1):c.8677dup (p.His2893fs)	PKHD1 (H2893fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 553349	NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)	PKHD1 (V2884del)	Microsatellite (inframe_deletion)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 96436	NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)	PKHD1 (T2869K)	Single nucleotide variant (missense variant)	Caroli disease +3 more	GBenign/Likely benign
Select item 553645	NM_138694.4(PKHD1):c.8555-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 552021	NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)	PKHD1 (I2851T)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GConflicting classifications of pathogenicity
Select item 188742	NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)	PKHD1 (M2841V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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