GANAB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 2539026	NM_198334.3(GANAB):c.2831G>C (p.Arg944Pro)	GANAB (R847P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2896619	NM_198334.3(GANAB):c.2801A>G (p.Asn934Ser)	GANAB (N842S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020177	NM_198334.3(GANAB):c.2786G>A (p.Arg929His)	GANAB (R815H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905310	NM_198334.3(GANAB):c.2785C>T (p.Arg929Cys)	GANAB (R815C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036581	NM_198334.3(GANAB):c.2769C>G (p.Thr923=)	GANAB	Single nucleotide variant (synonymous variant)	GANAB-related condition	GLikely benign
Select item 2986323	NM_198334.3(GANAB):c.2750T>G (p.Phe917Cys)	GANAB (F676C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627254	NM_198334.3(GANAB):c.2740C>T (p.Arg914Cys)	GANAB (R673C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1545967	NM_198334.3(GANAB):c.2726-13A>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005803	NM_198334.3(GANAB):c.2726-15_2726-14del	GANAB	Deletion (intron variant)	not provided	GLikely benign
Select item 492969	NM_198334.3(GANAB):c.2725+4_2725+12del	GANAB	Deletion (intron variant)	POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE	GPathogenic
Select item 1050042	NM_198334.3(GANAB):c.2717A>G (p.Gln906Arg)	GANAB (Q665R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183062	NM_198334.3(GANAB):c.2702C>T (p.Ala901Val)	GANAB (A787V +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 636767	NM_198334.3(GANAB):c.2693G>C (p.Gly898Ala)	GANAB (G920A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969154	NM_198334.3(GANAB):c.2684T>C (p.Ile895Thr)	GANAB (I654T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467969	NM_198334.3(GANAB):c.2672G>A (p.Arg891Gln)	GANAB (R794Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2985183	NM_198334.3(GANAB):c.2624+16C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879687	NM_198334.3(GANAB):c.2624+11A>C	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253131	NM_198334.3(GANAB):c.2624+2_2624+7del	GANAB	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2818531	NM_198334.3(GANAB):c.2624+5T>C	GANAB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1896439	NM_198334.3(GANAB):c.2617G>A (p.Val873Ile)	GANAB (V776I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248272	NM_198334.3(GANAB):c.2591G>A (p.Arg864Gln)	GANAB (R886Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1708672	NM_198334.3(GANAB):c.2588G>T (p.Arg863Leu)	GANAB (R622L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306284	NM_198334.3(GANAB):c.2588G>A (p.Arg863His)	GANAB (R622H +5 more)	Single nucleotide variant (missense variant)	GANAB-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2962437	NM_198334.3(GANAB):c.2574A>G (p.Gln858=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501872	NM_198334.3(GANAB):c.2572C>A (p.Gln858Lys)	GANAB (Q617K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600739	NM_198334.3(GANAB):c.2569C>T (p.Arg857Cys)	GANAB (R616C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 729863	NM_198334.3(GANAB):c.2548C>T (p.His850Tyr)	GANAB (H758Y +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 1644852	NM_198334.3(GANAB):c.2512-13A>G	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GLikely benign
Select item 2792174	NM_198334.3(GANAB):c.2512-16C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645223	NM_198334.3(GANAB):c.2511+8C>G	GANAB	Single nucleotide variant (intron variant)	GANAB-related condition +1 more	GLikely benign
Select item 2636420	NM_198334.3(GANAB):c.2484C>G (p.Ile828Met)	GANAB (I587M +5 more)	Single nucleotide variant (missense variant)	GANAB-related condition	GUncertain significance
Select item 2988667	NM_198334.3(GANAB):c.2467A>G (p.Met823Val)	GANAB (M582V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253132	NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	GANAB (R839W +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely 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 2803700	NM_198334.3(GANAB):c.2437T>C (p.Trp813Arg)	GANAB (W572R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1594778	NM_198334.3(GANAB):c.2398-7G>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530837	NM_198334.3(GANAB):c.2398-12C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301033	NM_198334.3(GANAB):c.2398-62A>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190505	NM_198334.3(GANAB):c.2397+35C>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802296	NM_198334.3(GANAB):c.2371C>G (p.Leu791Val)	GANAB (L677V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386311	NM_198334.3(GANAB):c.2353C>A (p.His785Asn)	GANAB (H785N +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1547834	NM_198334.3(GANAB):c.2343C>T (p.Ser781=)	GANAB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1678452	NM_198334.3(GANAB):c.2334C>A (p.Asp778Glu)	GANAB (D537E +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 2762097	NM_198334.3(GANAB):c.2323-11G>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987646	NM_198334.3(GANAB):c.2323-11del	GANAB	Deletion (intron variant)	not provided	GLikely benign
Select item 1237345	NM_198334.3(GANAB):c.2323-39C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2263375	NM_198334.3(GANAB):c.2303A>G (p.Tyr768Cys)	GANAB (Y527C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2835534	NM_198334.3(GANAB):c.2302T>C (p.Tyr768His)	GANAB (Y676H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174939	NM_198334.3(GANAB):c.2299G>C (p.Val767Leu)	GANAB (V670L +5 more)	Single nucleotide variant (missense variant)	not provided	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 2442748	NM_198334.3(GANAB):c.2288A>C (p.His763Pro)	GANAB (H522P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700204	NM_198334.3(GANAB):c.2280_2281del (p.Gly761fs)	GANAB (G520fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2571872	NM_198334.3(GANAB):c.2267C>G (p.Pro756Arg)	GANAB (P515R +5 more)	Single nucleotide variant (missense variant)	not provided	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 1919222	NM_198334.3(GANAB):c.2252C>T (p.Ala751Val)	GANAB (A510V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2617992	NM_198334.3(GANAB):c.2249A>T (p.Asp750Val)	GANAB (D653V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1496761	NM_198334.3(GANAB):c.2249A>G (p.Asp750Gly)	GANAB (D653G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702970	NM_198334.3(GANAB):c.2246-9A>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657550	NM_198334.3(GANAB):c.2246-14C>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777956	NM_198334.3(GANAB):c.2245+15T>C	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174940	NM_198334.3(GANAB):c.2229T>C (p.Asp743=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910269	NM_198334.3(GANAB):c.2226A>G (p.Ile742Met)	GANAB (I645M +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2900525	NM_198334.3(GANAB):c.2222A>G (p.Asn741Ser)	GANAB (N500S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054400	NM_198334.3(GANAB):c.2211G>T (p.Val737=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1289267	NM_198334.3(GANAB):c.2181-56T>C	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282750	NM_198334.3(GANAB):c.2181-236C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189488	NM_198334.3(GANAB):c.2180+266C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2199920	NM_198334.3(GANAB):c.2180+3G>A	GANAB	Single nucleotide variant (intron variant)	not provided	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 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 1989318	NM_198334.3(GANAB):c.2167A>G (p.Ile723Val)	GANAB (I482V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887299	NM_198334.3(GANAB):c.2166C>T (p.Gly722=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713973	NM_198334.3(GANAB):c.2159G>A (p.Arg720Gln)	GANAB (R479Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972270	NM_198334.3(GANAB):c.2158C>T (p.Arg720Trp)	GANAB (R479W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443644	NM_198334.3(GANAB):c.2130_2132delinsGTACCAGAA (p.Phe710_Trp711delinsLeuTyrGlnLys)	GANAB	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2572928	NM_198334.3(GANAB):c.2110C>T (p.Arg704Ter)	GANAB (R463* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2085055	NM_198334.3(GANAB):c.2106C>T (p.Gly702=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784542	NM_198334.3(GANAB):c.2099C>G (p.Ala700Gly)	GANAB (A459G +5 more)	Single nucleotide variant (missense variant)	not provided	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 2988600	NM_198334.3(GANAB):c.2081A>G (p.Asn694Ser)	GANAB (N602S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981314	NM_198334.3(GANAB):c.2041A>G (p.Thr681Ala)	GANAB (T584A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743880	NM_198334.3(GANAB):c.2031C>A (p.Ala677=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1699527	NM_198334.3(GANAB):c.1998G>C (p.Met666Ile)	GANAB (M425I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054414	NM_198334.3(GANAB):c.1983G>A (p.Val661=)	GANAB	Single nucleotide variant (synonymous variant)	GANAB-related condition	GLikely benign
Select item 2021952	NM_198334.3(GANAB):c.1977G>T (p.Leu659=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	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 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 2041362	NM_198334.3(GANAB):c.1937-10C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
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

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