ClinVar for MedGen (Select 854672) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342290	NM_198334.3(GANAB):c.199_200del (p.Leu67fs)	GANAB (L67fs)	Microsatellite (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3256692	NM_198334.3(GANAB):c.842dup (p.Asn281fs)	GANAB (N167fs +5 more)	Duplication (frameshift variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3255154	NM_198334.3(GANAB):c.848A>C (p.Asp283Ala)	GANAB (D169A +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3254987	NM_198334.3(GANAB):c.1495G>T (p.Glu499Ter)	GANAB (E258* +5 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease 3 with or without polycystic liver disease	GPathogenic
Select item 3236803	NM_198334.3(GANAB):c.174_175del (p.Pro59fs)	GANAB (P59fs)	Microsatellite (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3236796	NM_198334.3(GANAB):c.1310_1320del (p.Arg437fs)	GANAB (R196fs +5 more)	Deletion (frameshift variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GPathogenic
Select item 3236260	NM_198334.3(GANAB):c.833G>A (p.Arg278His)	GANAB (R164H +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3068388	NM_198334.3(GANAB):c.12_38+2del	GANAB	Deletion (splice donor variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3066317	NM_198334.3(GANAB):c.1840G>A (p.Val614Met)	GANAB (V373M +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 2691267	NM_198334.3(GANAB):c.1936+1del	GANAB	Deletion (splice donor variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GPathogenic
Select item 2582608	NM_198334.3(GANAB):c.1870G>C (p.Asp624His)	GANAB (D383H +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 2575052	NM_198334.3(GANAB):c.644_645del (p.Gln215fs)	GANAB (Q101fs +4 more)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 2575050	NM_198334.3(GANAB):c.677G>A (p.Trp226Ter)	GANAB (W112* +4 more)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 2505230	NM_198334.3(GANAB):c.517C>T (p.Arg173Ter)	GANAB (R173* +2 more)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 2440412	NM_198334.3(GANAB):c.2434C>T (p.Arg812Ter)	GANAB (R571* +5 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 2432036	NM_198334.3(GANAB):c.760G>A (p.Glu254Lys)	GANAB (E13K +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 2432035	NM_198334.3(GANAB):c.2420G>C (p.Gly807Ala)	GANAB (G566A +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 1806187	NM_198334.3(GANAB):c.1787G>A (p.Arg596His)	GANAB (R355H +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 1805256	NM_198334.3(GANAB):c.428C>A (p.Ala143Asp)	GANAB (A143D +2 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease +2 more	GUncertain significance
Select item 1803160	NM_198334.3(GANAB):c.1429T>C (p.Tyr477His)	GANAB (Y236H +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 1711181	NM_198334.3(GANAB):c.224C>T (p.Thr75Met)	GANAB (T75M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1711179	NM_198334.3(GANAB):c.2516C>T (p.Thr839Ile)	GANAB (T598I +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GPathogenic
Select item 1699223	NM_198334.3(GANAB):c.2830C>T (p.Arg944Ter)	GANAB (R703* +5 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 1691315	NM_198334.3(GANAB):c.560+444A>C	GANAB	Single nucleotide variant (intron variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 1678452	NM_198334.3(GANAB):c.2334C>A (p.Asp778Glu)	GANAB (D537E +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1671919	NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)	GANAB (P193R +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1644852	NM_198334.3(GANAB):c.2512-13A>G	GANAB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1598685	NM_198334.3(GANAB):c.38+17C>T	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GBenign/Likely benign
Select item 1596421	NM_198334.3(GANAB):c.1386+18C>T	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GBenign/Likely benign
Select item 1547834	NM_198334.3(GANAB):c.2343C>T (p.Ser781=)	GANAB	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GLikely benign
Select item 1526056	NM_198334.3(GANAB):c.1951TTC[1] (p.Phe652del)	GANAB (F411del +5 more)	Microsatellite (inframe_deletion)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 1479450	NM_198334.3(GANAB):c.253G>A (p.Val85Met)	GANAB (V85M)	Single nucleotide variant (missense variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease +2 more	GUncertain significance
Select item 1413869	NM_198334.3(GANAB):c.415G>A (p.Glu139Lys)	GANAB (E139K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1409060	NM_198334.3(GANAB):c.381-10T>C	GANAB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1371454	NM_198334.3(GANAB):c.548C>T (p.Ala183Val)	GANAB (A69V +2 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease +2 more	GUncertain significance
Select item 1333463	NM_198334.3(GANAB):c.2293G>A (p.Val765Ile)	GANAB (V524I +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 1333062	NM_198334.3(GANAB):c.2253G>A (p.Ala751=)	GANAB	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GLikely benign
Select item 1327722	NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)	GANAB (R164* +2 more)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GPathogenic/Likely pathogenic
Select item 1321614	NM_198334.3(GANAB):c.926G>A (p.Arg309His)	GANAB (R195H +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1313542	NM_198334.3(GANAB):c.2177T>C (p.Met726Thr)	GANAB (M485T +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 1300965	NM_198334.3(GANAB):c.2021G>A (p.Arg674Gln)	GANAB (R433Q +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 1255600	NM_198334.3(GANAB):c.323C>T (p.Pro108Leu)	GANAB (P108L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1254384	NM_198334.3(GANAB):c.380+15A>G	GANAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185014	NM_198334.3(GANAB):c.262G>A (p.Val88Met)	GANAB (V88M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1049962	NM_198334.3(GANAB):c.560+469C>T	GANAB (T195M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032597	NM_198334.3(GANAB):c.1586A>C (p.Asn529Thr)	GANAB (N415T +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 977520	NM_198334.3(GANAB):c.1433G>A (p.Arg478Gln)	GANAB (R237Q +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 972836	NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln)	GANAB (R584Q +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 972833	NM_198334.3(GANAB):c.1142G>C (p.Ser381Thr)	GANAB (S289T +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 810838	NC_000011.10:g.62628412_62655064del	GANAB, INTS5	Deletion	Polycystic kidney disease 3 with or without polycystic liver disease	GPathogenic
Select item 797837	NM_198334.3(GANAB):c.1594-9C>T	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GBenign/Likely benign
Select item 780995	NM_198334.3(GANAB):c.714G>A (p.Pro238=)	GANAB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 623209	NM_001009944.3(PKD1):c.6916-9G>A	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type +3 more	GPathogenic/Likely pathogenic
Select item 623208	NM_001009944.3(PKD1):c.5693dup (p.Val1899fs)	PKD1 (V1899fs)	Duplication (frameshift variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 620580	NM_001009944.3(PKD1):c.7111del (p.Val2371fs)	PKD1 (V2371fs)	Deletion (frameshift variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GPathogenic
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 562302	NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	PKD1 (L727P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 431936	NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)	PKD1 (F2132C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 253133	NM_198334.3(GANAB):c.152_153del (p.Arg51fs)	GANAB (R51fs)	Microsatellite (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GPathogenic
Select item 253132	NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	GANAB (R839W +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 253129	NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)	GANAB (D377fs +5 more)	Deletion (frameshift variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GPathogenic
Select item 8206	NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	PKD1 (L845S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GPathogenic/Likely pathogenic

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Items: 62