C0158683[trait identifier] AND "Laboratory of Gastroenterology and Hep - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1255551	NM_001904.4(CTNNB1):c.1456C>T (p.Arg486Cys)	CTNNB1, LOC126806659 (R479C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255552	NM_001904.4(CTNNB1):c.2189G>A (p.Gly730Asp)	CTNNB1 (G723D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255553	NM_001904.4(CTNNB1):c.2317C>A (p.Gln773Lys)	CTNNB1 (Q766K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 1255564	NM_001789.3(CDC25A):c.1124A>G (p.Asn375Ser)	CDC25A (N335S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1255550	NM_001789.3(CDC25A):c.1046C>T (p.Thr349Ile)	CDC25A (T309I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255565	NM_001789.3(CDC25A):c.968A>G (p.Lys323Arg)	CDC25A (K283R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 1255549	NM_001789.3(CDC25A):c.263C>T (p.Ser88Phe)	CDC25A (S88F)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255613	NM_013336.4(SEC61A1):c.706C>T (p.Arg236Cys)	RUVBL1, SEC61A1 (R236C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255612	NM_013336.4(SEC61A1):c.707G>A (p.Arg236His)	RUVBL1, SEC61A1 (R236H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255555	NM_000297.4(PKD2):c.620A>G (p.Glu207Gly)	PKD2 (E207G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 1255693	NM_000297.4(PKD2):c.950G>A (p.Gly317Glu)	PKD2 (G317E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255687	NM_000297.4(PKD2):c.1205C>T (p.Thr402Ile)	PKD2 (T402I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255556	NM_138694.4(PKHD1):c.12076C>G (p.Gln4026Glu)	PKHD1 (Q4026E)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely benign
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 1255540	NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter)	PKHD1 (W3576*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1255537	NM_138694.4(PKHD1):c.10727G>T (p.Trp3576Leu)	PKHD1 (W3576L)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 290431	NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly)	PKHD1 (D3540G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 653999	NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)	PKHD1 (A3376fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 441087	NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)	PKHD1 (I3309V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 289330	NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)	PKHD1 (D3290N)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 167475	NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	PKHD1 (S3289I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +4 more	GConflicting classifications of pathogenicity
Select item 167477	NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)	PKHD1 (V3263A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 235711	NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)	PKHD1 (D3088N)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 1255545	NM_138694.4(PKHD1):c.9230G>C (p.Trp3077Ser)	PKHD1 (W3077S)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver 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 96431	NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	PKHD1 (G2782A)	Single nucleotide variant (missense variant)	PKHD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1255560	NM_138694.4(PKHD1):c.8231G>A (p.Gly2744Asp)	PKHD1 (G2744D)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 863593	NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)	PKHD1 (Q2708*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic
Select item 288719	NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)	PKHD1 (P2582S)	Single nucleotide variant (missense variant)	PKHD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 499806	NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)	PKHD1 (R2573C)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 197602	NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)	PKHD1 (V2559L)	Single nucleotide variant (missense variant)	PKHD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1255544	NM_138694.4(PKHD1):c.7529C>A (p.Ser2510Tyr)	PKHD1 (S2510Y)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 406887	NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)	PKHD1 (C2422G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 624248	NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His)	PKHD1 (R2413H)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 197475	NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)	PKHD1 (G2285E)	Single nucleotide variant (missense variant)	PKHD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1255546	NM_138694.4(PKHD1):c.6314A>G (p.Tyr2105Cys)	PKHD1 (Y2105C)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 371036	NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)	PKHD1 (Q1829*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 188369	NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	LOC126859690, PKHD1 (R1624W)	Single nucleotide variant (missense variant)	PKHD1-related condition +5 more	GPathogenic/Likely pathogenic
Select item 1255542	NM_138694.4(PKHD1):c.4475C>T (p.Ser1492Phe)	PKHD1 (S1492F)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255541	NM_138694.4(PKHD1):c.4346G>T (p.Gly1449Val)	PKHD1 (G1449V)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1052486	NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys)	PKHD1 (T1243K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 288097	NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile)	PKHD1 (V1176I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GUncertain significance
Select item 636580	NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	PKHD1 (S1156L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1255558	NM_138694.4(PKHD1):c.3310T>G (p.Ser1104Ala)	PKHD1 (S1104A)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 196052	NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	PKHD1 (G952R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 1255548	NM_138694.4(PKHD1):c.2285_2286del (p.Val762fs)	PKHD1 (V762fs)	Microsatellite (frameshift variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 406884	NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)	PKHD1 (I757V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 290977	NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)	PKHD1 (I757L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 288720	NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)	PKHD1 (V732F)	Single nucleotide variant (missense variant)	PKHD1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 357447	NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu)	PKHD1 (F631L)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 189098	NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)	PKHD1 (M627K)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 291029	NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)	PKHD1 (R559Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 374479	NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)	PKHD1 (G448R)	Single nucleotide variant (missense variant)	PKHD1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 199185	NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)	PKHD1 (E218K)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 1255559	NM_138694.4(PKHD1):c.422A>G (p.Gln141Arg)	PKHD1 (Q141R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 499278	NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)	PKHD1 (G112R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 499252	NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp)	PKHD1 (R73W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 4108	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1 (T36M)	Single nucleotide variant (missense variant)	PKHD1-related condition +7 more	GPathogenic/Likely pathogenic
Select item 1255569	NM_007214.5(SEC63):c.2026A>G (p.Thr676Ala)	SEC63 (T676A)	Single nucleotide variant (missense variant)	Polycystic liver disease 2	GUncertain significance
Select item 1255624	NM_007214.5(SEC63):c.2006_2007del (p.His669fs)	SEC63 (H669fs)	Deletion (frameshift variant)	SEC63-related condition +1 more	GPathogenic
Select item 1255587	NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter)	SEC63 (S632*)	Single nucleotide variant (nonsense)	Polycystic liver disease 2	GLikely pathogenic
Select item 1255634	NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter)	SEC63 (R622*)	Single nucleotide variant (nonsense)	Polycystic liver disease 2 +1 more	GLikely pathogenic
Select item 1255632	NM_007214.5(SEC63):c.1817_1821del (p.Asn606fs)	SEC63 (N606fs)	Microsatellite (frameshift variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255620	NM_007214.5(SEC63):c.1810A>T (p.Lys604Ter)	SEC63 (K604*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255628	NM_007214.5(SEC63):c.1629G>C (p.Gln543His)	SEC63 (Q543H)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255599	NM_007214.5(SEC63):c.1577C>A (p.Ser526Ter)	SEC63 (S526*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255605	NM_007214.5(SEC63):c.1434_1435del (p.Met479fs)	SEC63 (M479fs)	Deletion (frameshift variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255625	NM_007214.5(SEC63):c.1249G>T (p.Glu417Ter)	SEC63 (E417*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255637	NM_007214.5(SEC63):c.1118_1126del (p.Ala373_Gln375del)	SEC63	Deletion (inframe_deletion)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255629	NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)	SEC63 (Q375P)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255630	NM_007214.5(SEC63):c.964del (p.Gln322fs)	SEC63 (Q322fs)	Deletion (frameshift variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255626	NM_007214.5(SEC63):c.958G>T (p.Glu320Ter)	SEC63 (E320*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255636	NM_007214.5(SEC63):c.715C>T (p.Arg239Ter)	SEC63 (R239*)	Single nucleotide variant (nonsense)	Polycystic liver disease 2 +1 more	GPathogenic
Select item 1255576	NM_007214.5(SEC63):c.693_694dup (p.Thr232fs)	SEC63 (T232fs)	Microsatellite (frameshift variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255621	NM_007214.5(SEC63):c.646A>G (p.Ile216Val)	SEC63 (I216V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1255563	NM_007214.5(SEC63):c.636G>A (p.Trp212Ter)	SEC63 (W212*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255547	NM_007214.5(SEC63):c.622G>C (p.Val208Leu)	SEC63 (V208L)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255631	NM_007214.5(SEC63):c.502G>C (p.Asp168His)	SEC63 (D168H)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255616	NM_007214.5(SEC63):c.422del (p.Met141fs)	SEC63 (M141fs)	Deletion (frameshift variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255623	NM_007214.5(SEC63):c.359_366del (p.Ile120fs)	SEC63 (I120fs)	Deletion (frameshift variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255622	NM_007214.5(SEC63):c.359T>C (p.Ile120Thr)	SEC63 (I120T)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255633	NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)	SEC63 (R98*)	Single nucleotide variant (nonsense)	Polycystic liver disease 2	GPathogenic
Select item 1255635	NM_007214.5(SEC63):c.133C>T (p.Arg45Ter)	SEC63 (R45*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255557	NM_007214.5(SEC63):c.105G>A (p.Trp35Ter)	SEC63 (W35*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255614	NM_018144.4(SEC61A2):c.508C>A (p.Gln170Lys)	SEC61A2 (Q148K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 1255601	NM_002729.5(HHEX):c.17C>G (p.Pro6Arg)	HHEX, LOC130004359 (P6R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255591	NM_001018057.2(DKK3):c.1006dup (p.Glu336fs)	DKK3 (E336fs +1 more)	Duplication (frameshift variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255592	NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys)	DKK3 (R318C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255590	NM_001018057.2(DKK3):c.647C>T (p.Pro216Leu)	DKK3, LOC130005346 (P216L)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255596	NM_198334.3(GANAB):c.2636C>T (p.Pro879Leu)	GANAB (P638L +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GBenign
Select item 590352	NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter)	GANAB (R886* +5 more)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic liver disease +1 more	GPathogenic/Likely pathogenic
Select item 590351	NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)	GANAB (R837* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1255595	NM_198334.3(GANAB):c.2173G>A (p.Val725Ile)	GANAB (V484I +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 590354	NM_198334.3(GANAB):c.1940A>G (p.Asp647Gly)	GANAB (D669G +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 590350	NM_198334.3(GANAB):c.1936+1G>C	GANAB	Single nucleotide variant (splice donor variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 590353	NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys)	GANAB (R618C +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 590349	NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro)	GANAB (R612P +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GPathogenic
Select item 1255594	NM_198334.3(GANAB):c.1399G>A (p.Val467Ile)	GANAB (V226I +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign

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