ClinVar for Gene (Select 23193) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893238	NM_198334.3(GANAB):c.2327G>A (p.Trp776Ter)	GANAB (W535* +5 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3852817	NM_198334.3(GANAB):c.1412T>C (p.Ile471Thr)	GANAB (I357T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3779685	NM_198334.3(GANAB):c.631-1G>T	GANAB	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3778285	NM_198334.3(GANAB):c.19G>C (p.Val7Leu)	GANAB (V7L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3777618	NM_198334.3(GANAB):c.1334G>A (p.Arg445His)	GANAB (R204H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3773757	NM_198334.3(GANAB):c.1408C>T (p.His470Tyr)	GANAB (H229Y +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3771392	NM_198334.3(GANAB):c.2379G>A (p.Leu793=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3767831	NM_198334.3(GANAB):c.910G>A (p.Ala304Thr)	GANAB (A190T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3728172	NM_198334.3(GANAB):c.143+11del	GANAB	Deletion (intron variant)	not provided	GLikely benign
Select item 3717170	NM_198334.3(GANAB):c.1527C>T (p.Tyr509=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3715257	NM_198334.3(GANAB):c.1824C>T (p.Ser608=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3714924	NM_198334.3(GANAB):c.2027A>G (p.His676Arg)	GANAB (H435R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3713268	NM_198334.3(GANAB):c.1594-4C>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3711235	NM_198334.3(GANAB):c.813T>C (p.Thr271=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3709946	NM_198334.3(GANAB):c.1512A>G (p.Pro504=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3707603	NM_198334.3(GANAB):c.1936+8_1936+9del	GANAB	Deletion (intron variant)	not provided	GLikely benign
Select item 3704721	NM_198334.3(GANAB):c.847G>A (p.Asp283Asn)	GANAB (D169N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3700335	NM_198334.3(GANAB):c.1766A>T (p.Gln589Leu)	GANAB (Q492L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3698274	NM_198334.3(GANAB):c.1521T>C (p.Ala507=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3695089	NM_198334.3(GANAB):c.1707G>A (p.Arg569=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3694600	NM_198334.3(GANAB):c.1464G>C (p.Leu488=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3693817	NM_198334.3(GANAB):c.2481C>T (p.Pro827=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3689400	NM_198334.3(GANAB):c.606G>A (p.Glu202=)	GANAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3688669	NM_198334.3(GANAB):c.1078G>A (p.Gly360Ser)	GANAB (G246S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3685040	NM_198334.3(GANAB):c.2097T>C (p.Asp699=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3683785	NM_198334.3(GANAB):c.76T>A (p.Cys26Ser)	GANAB (C26S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3677904	NM_198334.3(GANAB):c.561-8C>A	GANAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3675427	NM_198334.3(GANAB):c.2397+11C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3674195	NM_198334.3(GANAB):c.801G>A (p.Arg267=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3673964	NM_198334.3(GANAB):c.815+18A>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3666008	NM_198334.3(GANAB):c.2644C>A (p.His882Asn)	GANAB (H904N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3665546	NM_198334.3(GANAB):c.891G>T (p.Gly297=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3665133	NM_198334.3(GANAB):c.914A>T (p.His305Leu)	GANAB (H213L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3664681	NM_198334.3(GANAB):c.2277C>T (p.Asp759=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3650871	NM_198334.3(GANAB):c.289A>G (p.Asn97Asp)	GANAB (N97D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3647582	NM_198334.3(GANAB):c.675C>T (p.Ala225=)	GANAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3641436	NM_198334.3(GANAB):c.1513+12C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3639537	NM_198334.3(GANAB):c.143+13T>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3632699	NM_198334.3(GANAB):c.560+478G>A	GANAB (S84N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3626392	NM_198334.3(GANAB):c.1422C>T (p.Asp474=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3623016	NM_198334.3(GANAB):c.1839C>T (p.Ala613=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3622940	NM_198334.3(GANAB):c.253-4G>A	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3622840	NM_198334.3(GANAB):c.2181-14T>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3620457	NM_198334.3(GANAB):c.2171C>T (p.Pro724Leu)	GANAB (P483L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3617993	NM_198334.3(GANAB):c.225G>A (p.Thr75=)	GANAB	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3616829	NM_198334.3(GANAB):c.2624+14C>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3614921	NM_198334.3(GANAB):c.560+520A>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3614346	NM_198334.3(GANAB):c.2362C>T (p.Pro788Ser)	GANAB (P547S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3610544	NM_198334.3(GANAB):c.1549A>T (p.Met517Leu)	GANAB (M276L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3605599	NM_198334.3(GANAB):c.1835-16T>C	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3603532	NM_198334.3(GANAB):c.718+17C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3602410	NM_198334.3(GANAB):c.335G>A (p.Arg112Gln)	GANAB (R112Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3599912	NM_198334.3(GANAB):c.-4C>G	GANAB	Single nucleotide variant (5 prime UTR variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599910	NM_198334.3(GANAB):c.73G>A (p.Val25Ile)	GANAB (V25I)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599909	NM_198334.3(GANAB):c.124G>C (p.Glu42Gln)	GANAB (E42Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599908	NM_198334.3(GANAB):c.131G>T (p.Ser44Ile)	GANAB (S44I)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599907	NM_198334.3(GANAB):c.143A>G (p.Lys48Arg)	GANAB (K48R)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599906	NM_198334.3(GANAB):c.161G>A (p.Arg54Gln)	GANAB (R54Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599905	NM_198334.3(GANAB):c.169C>T (p.Leu57Phe)	GANAB (L57F)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599904	NM_198334.3(GANAB):c.199C>A (p.Leu67Ile)	GANAB (L67I)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 3599903	NM_198334.3(GANAB):c.243G>T (p.Glu81Asp)	GANAB (E81D)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599901	NM_198334.3(GANAB):c.274C>T (p.Gln92Ter)	GANAB (Q92*)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3599900	NM_198334.3(GANAB):c.283C>T (p.Gln95Ter)	GANAB (Q95*)	Single nucleotide variant (5 prime UTR variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3599899	NM_198334.3(GANAB):c.305G>A (p.Arg102Lys)	GANAB (R5K +1 more)	Single nucleotide variant (missense variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599898	NM_198334.3(GANAB):c.328C>T (p.Arg110Ter)	GANAB (R13* +1 more)	Single nucleotide variant (nonsense +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3599897	NM_198334.3(GANAB):c.334C>T (p.Arg112Ter)	GANAB (R15* +1 more)	Single nucleotide variant (nonsense +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3599896	NM_198334.3(GANAB):c.340C>T (p.Arg114Cys)	GANAB (R114C +1 more)	Single nucleotide variant (missense variant +2 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599895	NM_198334.3(GANAB):c.476A>T (p.Asp159Val)	GANAB (D62V +2 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599894	NM_198334.3(GANAB):c.487G>T (p.Asp163Tyr)	GANAB (D163Y +2 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599893	NM_198334.3(GANAB):c.501G>T (p.Leu167Phe)	GANAB (L53F +2 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599892	NM_198334.3(GANAB):c.516_517delinsAT (p.Arg173Ter)	GANAB (R76* +2 more)	Indel (nonsense +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3599891	NM_198334.3(GANAB):c.551C>T (p.Pro184Leu)	GANAB (P70L +2 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599889	NM_198334.3(GANAB):c.560+441C>G	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599888	NM_198334.3(GANAB):c.655G>A (p.Glu219Lys)	GANAB (E241K +4 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599887	NM_198334.3(GANAB):c.690C>A (p.Phe230Leu)	GANAB (F116L +4 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599886	NM_198334.3(GANAB):c.718+12G>A	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599885	NM_198334.3(GANAB):c.721C>G (p.Pro241Ala)	GANAB (P127A +4 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599884	NM_198334.3(GANAB):c.737T>G (p.Leu246Trp)	GANAB (L132W +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599882	NM_198334.3(GANAB):c.815+3G>A	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599881	NM_198334.3(GANAB):c.842A>G (p.Asn281Ser)	GANAB (N167S +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599880	NM_198334.3(GANAB):c.997-12T>C	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599879	NM_198334.3(GANAB):c.1085T>C (p.Ile362Thr)	GANAB (I248T +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599878	NM_198334.3(GANAB):c.1260C>A (p.Asn420Lys)	GANAB (N323K +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599877	NM_198334.3(GANAB):c.1287C>G (p.Asp429Glu)	GANAB (D188E +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599876	NM_198334.3(GANAB):c.1303G>A (p.Gly435Ser)	GANAB (G343S +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599875	NM_198334.3(GANAB):c.1333C>T (p.Arg445Cys)	GANAB (R331C +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599873	NM_198334.3(GANAB):c.1364_1370del (p.Arg455fs)	GANAB (R358fs +5 more)	Deletion (frameshift variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3599872	NM_198334.3(GANAB):c.1387-3C>G	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599871	NM_198334.3(GANAB):c.1387-16_1387-3dup	GANAB	Duplication (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599870	NM_198334.3(GANAB):c.1411A>G (p.Ile471Val)	GANAB (I357V +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599869	NM_198334.3(GANAB):c.1441G>A (p.Glu481Lys)	GANAB (E503K +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599868	NM_198334.3(GANAB):c.1468G>A (p.Val490Ile)	GANAB (V376I +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599866	NM_198334.3(GANAB):c.1481A>G (p.Asp494Gly)	GANAB (D380G +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599865	NM_198334.3(GANAB):c.1561_1565delinsGGGG (p.Trp521fs)	GANAB (W543fs +5 more)	Indel (frameshift variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3599864	NM_198334.3(GANAB):c.1666A>G (p.Met556Val)	GANAB (M459V +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599863	NM_198334.3(GANAB):c.1669C>T (p.Leu557Phe)	GANAB (L316F +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599862	NM_198334.3(GANAB):c.1711G>A (p.Val571Met)	GANAB (V330M +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599861	NM_198334.3(GANAB):c.1738-15TC[2]	GANAB	Microsatellite (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance
Select item 3599860	NM_198334.3(GANAB):c.1738-1G>A	GANAB	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 3599859	NM_198334.3(GANAB):c.1769G>A (p.Arg590His)	GANAB (R349H +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GUncertain significance

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