C0085548[trait identifier] AND "Baylor Genetics"[submitter] - 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 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 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 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 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 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 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 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 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 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 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 633361	NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)	PKHD1 (P3652fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 997896	NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)	PKHD1 (I3051T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 522152	NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)	PKHD1 (H3049R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GLikely pathogenic
Select item 594333	NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	PKHD1 (V3036G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
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 663999	NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)	PKHD1 (Y3001*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 813373	NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)	PKHD1 (R2979*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 949045	NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs)	PKHD1 (F2970fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 357423	NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)	PKHD1 (I2957T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1073734	NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)	PKHD1 (R2955*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
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 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 813374	NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)	PKHD1 (T2912fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
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 633352	NM_138694.4(PKHD1):c.8642+1G>A	PKHD1	Single nucleotide variant (splice donor variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic
Select item 813375	NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)	PKHD1 (S2877fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 429814	NM_138694.4(PKHD1):c.8555-2A>C	PKHD1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely 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 813376	NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)	PKHD1 (P2848fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 636941	NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	PKHD1 (R2840C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 96434	NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)	PKHD1 (G2809R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 197958	NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)	PKHD1 (M2804K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1929384	NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)	PKHD1 (Y2784*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 528299	NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	PKHD1 (V2773L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 496527	NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)	PKHD1 (W2736G)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 1069641	NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)	PKHD1 (S2732*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 283651	NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)	PKHD1 (E2731fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 813377	NM_138694.4(PKHD1):c.8174-2A>T	PKHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 1071908	NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)	PKHD1 (G2718fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 863593	NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)	PKHD1 (Q2708*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 871259	NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)	PKHD1 (G2705fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 357427	NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)	PKHD1 (W2690R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 974453	NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)	PKHD1 (R2671P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 2152014	NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)	PKHD1 (L2665P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 642865	NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)	PKHD1 (L2658fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 1699533	NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)	PKHD1 (H2655P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 189143	NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	PKHD1 (S2639*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 556382	NM_138694.4(PKHD1):c.7912-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 499806	NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)	PKHD1 (R2573C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity

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