ClinVar for MedGen (Select 442699) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3900650	NM_000297.4(PKD2):c.1967del (p.Leu656fs)	PKD2 (L656fs)	Deletion (frameshift variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3900048	NM_000297.4(PKD2):c.513_528dup (p.His177fs)	LOC129992813, PKD2 (H177fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3897558	NM_000297.4(PKD2):c.1115_1116del (p.Lys372fs)	PKD2 (K372fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3895605	NM_000297.4(PKD2):c.353G>A (p.Trp118Ter)	LOC129992813, PKD2 (W118*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3894585	NM_000297.4(PKD2):c.321_322insCG (p.Gly108fs)	LOC129992813, PKD2 (G108fs)	Insertion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3894565	NM_000297.4(PKD2):c.1293del (p.Asn432fs)	PKD2 (N432fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3892091	NM_000297.4(PKD2):c.1176_1178delinsACA (p.Tyr392_Leu393delinsTer)	PKD2	Indel (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3892090	NM_000297.4(PKD2):c.844-109_844-10del	PKD2	Deletion (intron variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3892089	NM_000297.4(PKD2):c.710-1_844-622del	PKD2	Deletion (splice acceptor variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3892088	NM_000297.4(PKD2):c.710-13_710-10del	PKD2	Deletion (intron variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3892087	NM_000297.4(PKD2):c.948A>G (p.Leu316=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2	GLikely benign
Select item 3892086	NM_000297.4(PKD2):c.289G>T (p.Glu97Ter)	LOC129992813, PKD2 (E97*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3892085	NM_000297.4(PKD2):c.287C>T (p.Ala96Val)	LOC129992813, PKD2 (A96V)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3892084	NM_000297.4(PKD2):c.2544G>A (p.Arg848=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2	GLikely benign
Select item 3892083	NM_000297.4(PKD2):c.1742G>C (p.Arg581Thr)	PKD2 (R581T)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3892081	NM_000297.4(PKD2):c.16C>T (p.Arg6Cys)	LOC129992813, PKD2 (R6C)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3892080	NM_000297.4(PKD2):c.169C>T (p.Gln57Ter)	LOC129992813, PKD2 (Q57*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3892079	NM_000297.4(PKD2):c.1157A>G (p.Tyr386Cys)	PKD2 (Y386C)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780899	NM_000297.4(PKD2):c.1899-1_2019+1del	PKD2	Deletion (splice acceptor variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780898	NC_000004.11:g.88928886_88996846del	PKD2	Deletion	Polycystic kidney disease 2	GPathogenic
Select item 3780424	NM_000297.4(PKD2):c.1281_1282del (p.Tyr429fs)	PKD2 (Y429fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780423	NM_000297.4(PKD2):c.1042_1050del (p.Tyr348_Val350del)	PKD2	Deletion (non-coding transcript variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3780421	NM_000297.4(PKD2):c.567_568delinsAA (p.Trp189_Ala190delinsTer)	LOC129992813, PKD2	Indel (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780420	NM_000297.4(PKD2):c.519_529del (p.Leu174fs)	LOC129992813, PKD2 (L174fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780419	NM_000297.4(PKD2):c.967C>T (p.Gln323Ter)	PKD2 (Q323*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780418	NM_000297.4(PKD2):c.706A>G (p.Ile236Val)	PKD2 (I236V)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780417	NM_000297.4(PKD2):c.662T>G (p.Leu221Ter)	PKD2 (L221*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780416	NM_000297.4(PKD2):c.568dup (p.Ala190fs)	LOC129992813, PKD2 (A190fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780414	NM_000297.4(PKD2):c.264C>G (p.Ser88Arg)	LOC129992813, PKD2 (S88R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780413	NM_000297.4(PKD2):c.2483del (p.Gly828fs)	PKD2 (G828fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780412	NM_000297.4(PKD2):c.2403_2404insCCAGGATCACAGTTCTTTACCACGTCCCATGAGC (p.Ser802fs)	PKD2 (S802fs)	Insertion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3780411	NM_000297.4(PKD2):c.1916T>G (p.Ile639Ser)	PKD2 (I639S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3780410	NM_000297.4(PKD2):c.1881T>C (p.Ser627=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2	GLikely benign
Select item 3780409	NM_000297.4(PKD2):c.1877T>C (p.Phe626Ser)	PKD2 (F626S)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780408	NM_000297.4(PKD2):c.1716G>C (p.Lys572Asn)	PKD2 (K572N)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780407	NM_000297.4(PKD2):c.16C>A (p.Arg6Ser)	LOC129992813, PKD2 (R6S)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780406	NM_000297.4(PKD2):c.1666A>G (p.Ile556Val)	PKD2 (I556V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3780405	NM_000297.4(PKD2):c.1622A>T (p.Asp541Val)	PKD2 (D541V)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780401	NM_000297.4(PKD2):c.1320-2A>T	PKD2	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 2	GPathogenic
Select item 3780400	NM_000297.4(PKD2):c.1266T>A (p.Thr422=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2	GLikely benign
Select item 3780399	NM_000297.4(PKD2):c.1178T>A (p.Leu393Gln)	PKD2 (L393Q)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780398	NM_000297.4(PKD2):c.1166C>T (p.Ala389Val)	PKD2 (A389V)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780397	NM_000297.4(PKD2):c.1098G>C (p.Trp366Cys)	PKD2 (W366C)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780396	NM_000297.4(PKD2):c.1076G>A (p.Gly359Glu)	PKD2 (G359E)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3780395	NM_000297.4(PKD2):c.1067del (p.Ala356fs)	PKD2 (A356fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3777038	NM_000297.4(PKD2):c.2080C>T (p.Gln694Ter)	PKD2 (Q694*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3775597	NM_000297.4(PKD2):c.1040del (p.Val347fs)	PKD2 (V347fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3775016	NM_000297.4(PKD2):c.2051A>G (p.Tyr684Cys)	PKD2 (Y684C)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3774562	NM_000297.4(PKD2):c.2640G>A (p.Val880=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3768833	NM_000297.4(PKD2):c.777del (p.Asp259fs)	PKD2 (D259fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3767106	NM_000297.4(PKD2):c.2246del (p.Gly749fs)	PKD2 (G749fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3764801	NM_000297.4(PKD2):c.1295A>C (p.Asn432Thr)	PKD2 (N432T)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3764715	NM_000297.4(PKD2):c.2523-2A>G	PKD2	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 2	GPathogenic
Select item 3764620	NM_000297.4(PKD2):c.445_469del (p.His149fs)	LOC129992813, PKD2 (H149fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3728760	NM_000297.4(PKD2):c.73_124dup (p.Ala42fs)	LOC129992813, PKD2 (A42fs)	Duplication (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 3716766	NM_000297.4(PKD2):c.2079G>A (p.Gln693=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 3591447	NM_000297.4(PKD2):c.2849A>G (p.Gln950Arg)	PKD2 (Q950R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591446	NM_000297.4(PKD2):c.2833C>T (p.Arg945Cys)	PKD2 (R945C)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 3591445	NM_000297.4(PKD2):c.2825G>A (p.Arg942Lys)	PKD2 (R942K)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591444	NM_000297.4(PKD2):c.2798T>C (p.Val933Ala)	PKD2 (V933A)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591443	NM_000297.4(PKD2):c.2671-2A>G	PKD2	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591442	NM_000297.4(PKD2):c.2670+5G>A	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591441	NM_000297.4(PKD2):c.2670+3del	PKD2	Deletion (intron variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3591440	NM_000297.4(PKD2):c.2662del (p.Val888fs)	PKD2 (V888fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591439	NM_000297.4(PKD2):c.2638del (p.Val880fs)	PKD2 (V880fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591438	NM_000297.4(PKD2):c.2573C>G (p.Ser858Cys)	PKD2 (S858C)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591437	NM_000297.4(PKD2):c.2549del (p.Glu850fs)	PKD2 (E850fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3591436	NM_000297.4(PKD2):c.2522+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 3591435	NM_000297.4(PKD2):c.2503T>C (p.Ser835Pro)	PKD2 (S835P)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591434	NM_000297.4(PKD2):c.2498G>A (p.Gly833Asp)	PKD2 (G833D)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591432	NM_000297.4(PKD2):c.2494A>G (p.Ser832Gly)	PKD2 (S832G)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591431	NM_000297.4(PKD2):c.2476del (p.Arg826fs)	PKD2 (R826fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3591430	NM_000297.4(PKD2):c.2384del (p.Ser795fs)	PKD2 (S795fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3591429	NM_000297.4(PKD2):c.2369A>G (p.Asp790Gly)	PKD2 (D790G)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591427	NM_000297.4(PKD2):c.2358+4G>T	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3591426	NM_000297.4(PKD2):c.2356_2357dup (p.Glu787fs)	PKD2 (E787fs)	Microsatellite (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3591425	NM_000297.4(PKD2):c.2342_2343del (p.Asp781fs)	PKD2 (D781fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3591424	NM_000297.4(PKD2):c.2258C>A (p.Ala753Glu)	PKD2 (A753E)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591423	NM_000297.4(PKD2):c.2247_2248insA (p.His750fs)	PKD2 (H750fs)	Insertion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591422	NM_000297.4(PKD2):c.2241-2_2241-1insTT	PKD2	Insertion (splice acceptor variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591421	NM_000297.4(PKD2):c.2228A>G (p.Gln743Arg)	PKD2 (Q743R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591420	NM_000297.4(PKD2):c.2227C>T (p.Gln743Ter)	PKD2 (Q743*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3591419	NM_000297.4(PKD2):c.2218G>A (p.Glu740Lys)	PKD2 (E740K)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591417	NM_000297.4(PKD2):c.2184T>A (p.Ser728Arg)	PKD2 (S728R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591416	NM_000297.4(PKD2):c.2119-1G>T	PKD2	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591415	NM_000297.4(PKD2):c.2115_2118del (p.Lys706fs)	PKD2 (K706fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591414	NM_000297.4(PKD2):c.2074del (p.Ala692fs)	PKD2 (A692fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591413	NM_000297.4(PKD2):c.2019+9A>G	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3591412	NM_000297.4(PKD2):c.2019+1G>C	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591411	NM_000297.4(PKD2):c.2019G>A (p.Leu673=)	PKD2	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591409	NM_000297.4(PKD2):c.2001_2009del (p.Met668_Phe670del)	PKD2	Deletion	Polycystic kidney disease 2	GUncertain significance
Select item 3591408	NM_000297.4(PKD2):c.1984A>C (p.Thr662Pro)	PKD2 (T662P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3591407	NM_000297.4(PKD2):c.1982del (p.Phe661fs)	PKD2 (F661fs)	Deletion (frameshift variant)	Polycystic kidney disease 2	GPathogenic
Select item 3591406	NM_000297.4(PKD2):c.1970G>A (p.Gly657Glu)	PKD2 (G657E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3591405	NM_000297.4(PKD2):c.1963G>A (p.Val655Ile)	PKD2 (V655I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3591404	NM_000297.4(PKD2):c.1935_1938delinsGAGATTTGGGCGATA (p.Asn645fs)	PKD2 (N645fs)	Indel (frameshift variant)	Polycystic kidney disease 2	GPathogenic
Select item 3591403	NM_000297.4(PKD2):c.1820T>C (p.Ile607Thr)	PKD2 (I607T)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591402	NM_000297.4(PKD2):c.1816A>G (p.Ile606Val)	PKD2 (I606V)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 3591401	NM_000297.4(PKD2):c.1804_1805dup (p.Met603fs)	PKD2 (M603fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3591400	NM_000297.4(PKD2):c.1770G>A (p.Met590Ile)	PKD2 (M590I)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance

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