"GeneDx"[submitter] AND "GANAB"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 253131	NM_198334.3(GANAB):c.2624+2_2624+7del	GANAB	Deletion (splice donor variant)	not provided	GPathogenic
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)	not provided	GConflicting classifications of pathogenicity
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 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 3372299	NM_198334.3(GANAB):c.2513G>C (p.Gly838Ala)	GANAB (G597A +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)	not provided +1 more	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 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 3342445	NM_198334.3(GANAB):c.2394C>T (p.Ser798=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1237345	NM_198334.3(GANAB):c.2323-39C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 3366268	NM_198334.3(GANAB):c.1991A>G (p.Tyr664Cys)	GANAB (Y423C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1179854	NM_198334.3(GANAB):c.1780A>G (p.Met594Val)	GANAB (M353V +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1287749	NM_198334.3(GANAB):c.1738-21G>C	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1960954	NM_198334.3(GANAB):c.1697G>T (p.Trp566Leu)	GANAB (W325L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219699	NM_198334.3(GANAB):c.1594-41C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193113	NM_198334.3(GANAB):c.1594-48C>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780994	NM_198334.3(GANAB):c.1590T>C (p.Tyr530=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2575642	NM_198334.3(GANAB):c.1519G>C (p.Ala507Pro)	GANAB (A266P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706165	NM_198334.3(GANAB):c.1505G>A (p.Cys502Tyr)	GANAB (C261Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188575	NM_198334.3(GANAB):c.1467T>C (p.Tyr489=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2502784	NM_198334.3(GANAB):c.1402G>T (p.Asp468Tyr)	GANAB (D227Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255594	NM_198334.3(GANAB):c.1399G>A (p.Val467Ile)	GANAB (V226I +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3098283	NM_198334.3(GANAB):c.1364G>A (p.Arg455His)	GANAB (R363H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 726360	NM_198334.3(GANAB):c.1320C>T (p.Thr440=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1710834	NM_198334.3(GANAB):c.1304G>A (p.Gly435Asp)	GANAB (G194D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704737	NM_198334.3(GANAB):c.1211G>A (p.Arg404Gln)	GANAB (R163Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305709	NM_198334.3(GANAB):c.1210C>T (p.Arg404Trp)	GANAB (R163W +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 253128	NM_198334.3(GANAB):c.1199G>T (p.Arg400Leu)	GANAB (R422L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314899	NM_198334.3(GANAB):c.1193A>G (p.Gln398Arg)	GANAB (Q157R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777649	NM_198334.3(GANAB):c.1185C>T (p.Gly395=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1312682	NM_198334.3(GANAB):c.1032_1037dup (p.Ser345_Gly346dup)	GANAB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 779263	NM_198334.3(GANAB):c.1026G>T (p.Leu342=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1257878	NM_198334.3(GANAB):c.997-113G>A	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191801	NM_198334.3(GANAB):c.997-299dup	GANAB	Duplication (intron variant)	not provided	GLikely benign
Select item 1253799	NM_198334.3(GANAB):c.996+107G>T	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241901	NM_198334.3(GANAB):c.996+21A>G	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1802035	NM_198334.3(GANAB):c.950A>G (p.Asn317Ser)	GANAB (N203S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 716421	NM_198334.3(GANAB):c.925C>T (p.Arg309Cys)	GANAB (R331C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 714409	NM_198334.3(GANAB):c.917A>G (p.Asn306Ser)	GANAB (N209S +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1220025	NM_198334.3(GANAB):c.816-99G>A	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704739	NM_198334.3(GANAB):c.756C>T (p.Gly252=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2636785	NM_198334.3(GANAB):c.754G>A (p.Gly252Ser)	GANAB (G11S +5 more)	Single nucleotide variant (missense variant)	GANAB-related disorder +1 more	GUncertain significance
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 1204495	NM_198334.3(GANAB):c.630+47G>A	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253642	NM_198334.3(GANAB):c.561-634G>A	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289647	NM_198334.3(GANAB):c.560+577T>C	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580744	NM_198334.3(GANAB):c.560+490A>T	GANAB (K202M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704114	NM_198334.3(GANAB):c.560+465C>T	GANAB (L194F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2502019	NM_198334.3(GANAB):c.550C>A (p.Pro184Thr)	GANAB (P184T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 719219	NM_198334.3(GANAB):c.518G>A (p.Arg173Gln)	GANAB (R76Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2136127	NM_198334.3(GANAB):c.490C>G (p.Arg164Gly)	GANAB (R164G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 782868	NM_198334.3(GANAB):c.460C>T (p.Arg154Trp)	GANAB (R40W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1699535	NM_198334.3(GANAB):c.398G>A (p.Arg133His)	GANAB (R133H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1300740	NM_198334.3(GANAB):c.381-189G>A	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237180	NM_198334.3(GANAB):c.380+293C>A	GANAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181426	NM_198334.3(GANAB):c.380+146TCT[2]	GANAB	Microsatellite (intron variant)	not provided	GLikely benign
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 2572778	NM_198334.3(GANAB):c.367C>G (p.Pro123Ala)	GANAB (P123A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1706951	NM_198334.3(GANAB):c.253-108T>G	GANAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 620175	NM_198334.3(GANAB):c.181C>T (p.Arg61Ter)	GANAB (R61*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
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 780996	NM_198334.3(GANAB):c.75C>G (p.Val25=)	GANAB	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 1225968	NM_198334.3(GANAB):c.39-275G>A	GANAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1235377	NM_198334.3(GANAB):c.39-280C>T	GANAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1244545	NM_198334.3(GANAB):c.39-281C>T	GANAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1290489	NM_198334.3(GANAB):c.39-331A>G	GANAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1301211	NM_198334.3(GANAB):c.20T>G (p.Val7Gly)	GANAB (V7G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1327292	NM_198334.3(GANAB):c.-1G>A	GANAB	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1254515	NC_000011.10:g.62646827A>T	GANAB	Single nucleotide variant	not provided	GLikely benign
Select item 3361774	NM_198334.3(GANAB):c.412G>T (p.Val138Leu)	GANAB (V138L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360189	NM_198334.3(GANAB):c.813T>G (p.Thr271=)	GANAB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 88