22930[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 150644	GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3	CCNT2, LOC111562379 +14 more	Copy number gain	See cases	GUncertain significance
Select item 1250530	NC_000002.12:g.135052002T>G	RAB3GAP1	Single nucleotide variant	not provided	GBenign
Select item 1214353	NC_000002.12:g.135052170T>C	RAB3GAP1	Single nucleotide variant	not provided	GLikely benign
Select item 130060	NM_012233.2(RAB3GAP1):c.-53C>G	RAB3GAP1	Single nucleotide variant	Warburg micro syndrome	GLikely benign
Select item 1162291	NC_000002.12:g.(?_135052292)_(135176396_?)del	LOC111562379, SNORA40B +2 more	Deletion	Warburg micro syndrome 1	GPathogenic
Select item 892873	NM_012233.3(RAB3GAP1):c.-4C>T	RAB3GAP1	Single nucleotide variant (5 prime UTR variant)	RAB3GAP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2544132	NM_012233.3(RAB3GAP1):c.5C>T (p.Ala2Val)	RAB3GAP1 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545408	NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs)	RAB3GAP1 (D4fs)	Deletion (frameshift variant)	Martsolf syndrome 2	GPathogenic
Select item 1662031	NM_012233.3(RAB3GAP1):c.12C>T (p.Asp4=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627170	NM_012233.3(RAB3GAP1):c.18+1G>C	RAB3GAP1	Single nucleotide variant (splice donor variant)	RAB3GAP1-related disorder	GLikely pathogenic
Select item 2230807	NM_012233.3(RAB3GAP1):c.18+3G>C	RAB3GAP1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 586392	NM_012233.3(RAB3GAP1):c.18+4A>G	RAB3GAP1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2716177	NM_012233.3(RAB3GAP1):c.18+8C>A	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017611	NM_012233.3(RAB3GAP1):c.18+8C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918889	NM_012233.3(RAB3GAP1):c.19-17C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606800	NM_012233.3(RAB3GAP1):c.19-13C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107103	NM_012233.3(RAB3GAP1):c.19-10C>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594330	NM_012233.3(RAB3GAP1):c.21C>G (p.Pro7=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 892874	NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser)	RAB3GAP1 (F12S)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 2040257	NM_012233.3(RAB3GAP1):c.42C>T (p.Ile14=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436465	NM_012233.3(RAB3GAP1):c.43A>G (p.Thr15Ala)	RAB3GAP1 (T15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100771	NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)	RAB3GAP1 (T18P)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GPathogenic
Select item 450518	NM_012233.3(RAB3GAP1):c.68G>A (p.Trp23Ter)	RAB3GAP1 (W23*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1802019	NM_012233.3(RAB3GAP1):c.72_73del (p.Arg25fs)	RAB3GAP1 (R25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 100772	NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)	RAB3GAP1 (E24V)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GPathogenic
Select item 735503	NM_012233.3(RAB3GAP1):c.74+8A>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194606	NM_012233.3(RAB3GAP1):c.74+14A>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762445	NM_012233.3(RAB3GAP1):c.74+15T>A	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214238	NM_012233.3(RAB3GAP1):c.74+135C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675476	NM_012233.3(RAB3GAP1):c.74+136C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672648	NM_012233.3(RAB3GAP1):c.74+294C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3061530	NM_012233.3(RAB3GAP1):c.75-8C>T	RAB3GAP1	Single nucleotide variant (intron variant)	RAB3GAP1-related disorder	GLikely benign
Select item 2702118	NM_012233.3(RAB3GAP1):c.78T>C (p.Phe26=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 331117	NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys)	RAB3GAP1 (E32K)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 1073466	NM_012233.3(RAB3GAP1):c.107_114del (p.Asp36fs)	RAB3GAP1 (D36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3041999	NM_012233.3(RAB3GAP1):c.117G>A (p.Leu39=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	RAB3GAP1-related disorder	GLikely benign
Select item 2054320	NM_012233.3(RAB3GAP1):c.124A>G (p.Asn42Asp)	RAB3GAP1 (N42D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1462568	NM_012233.3(RAB3GAP1):c.133G>A (p.Gly45Arg)	RAB3GAP1 (G45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820305	NM_012233.3(RAB3GAP1):c.141A>C (p.Pro47=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 668582	NM_012233.3(RAB3GAP1):c.144C>T (p.Leu48=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152585	NM_012233.3(RAB3GAP1):c.150+3C>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2730612	NM_012233.3(RAB3GAP1):c.150+14G>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267354	NM_012233.3(RAB3GAP1):c.150+150A>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204211	NM_012233.3(RAB3GAP1):c.150+175T>C	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203764	NM_012233.3(RAB3GAP1):c.150+180G>A	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186446	NM_012233.3(RAB3GAP1):c.150+206TA[3]	RAB3GAP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1199519	NM_012233.3(RAB3GAP1):c.150+224TA[9]	RAB3GAP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2051877	NM_012233.3(RAB3GAP1):c.151-19A>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121307	NM_012233.3(RAB3GAP1):c.151-13T>C	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Single nucleotide variant (intron variant)	Rigidity +17 more	GPathogenic
Select item 2026665	NM_012233.3(RAB3GAP1):c.151-4A>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911772	NM_012233.3(RAB3GAP1):c.153T>C (p.Gly51=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703326	NM_012233.3(RAB3GAP1):c.184T>A (p.Ser62Thr)	RAB3GAP1 (S62T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2022328	NM_012233.3(RAB3GAP1):c.198C>T (p.Ser66=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750771	NM_012233.3(RAB3GAP1):c.210C>T (p.Phe70=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436463	NM_012233.3(RAB3GAP1):c.217T>G (p.Ser73Ala)	RAB3GAP1 (S73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1970816	NM_012233.3(RAB3GAP1):c.219A>G (p.Ser73=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605390	NM_012233.3(RAB3GAP1):c.235C>G (p.Leu79Val)	RAB3GAP1 (L79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 331118	NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala)	RAB3GAP1 (V80A)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 774002	NM_012233.3(RAB3GAP1):c.240A>C (p.Val80=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1912404	NM_012233.3(RAB3GAP1):c.258_261del (p.Gly88fs)	RAB3GAP1 (G88fs)	Deletion (frameshift variant)	Warburg micro syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 7062	NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs)	RAB3GAP1 (K89fs)	Indel (frameshift variant)	Warburg micro syndrome 1	GPathogenic
Select item 448153	NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2122015	NM_012233.3(RAB3GAP1):c.280G>A (p.Glu94Lys)	RAB3GAP1 (E94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108349	NM_012233.3(RAB3GAP1):c.283+13T>C	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675579	NM_012233.3(RAB3GAP1):c.284-235A>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1027364	NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs)	RAB3GAP1 (Q99fs)	Deletion (frameshift variant)	Warburg micro syndrome	GLikely pathogenic
Select item 2063188	NM_012233.3(RAB3GAP1):c.297A>G (p.Gln99=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2356367	NM_012233.3(RAB3GAP1):c.299C>G (p.Ser100Cys)	RAB3GAP1 (S100C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 211982	NM_012233.3(RAB3GAP1):c.301A>G (p.Met101Val)	RAB3GAP1 (M101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1714179	NM_012233.3(RAB3GAP1):c.303G>A (p.Met101Ile)	RAB3GAP1 (M101I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951841	NM_012233.3(RAB3GAP1):c.354_355delinsAT (p.Val119Leu)	RAB3GAP1 (V119L)	Indel (missense variant)	not provided	GUncertain significance
Select item 130070	NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1996784	NM_012233.3(RAB3GAP1):c.362+9A>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723171	NM_012233.3(RAB3GAP1):c.362+10T>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207574	NM_012233.3(RAB3GAP1):c.363-335TC[11]	RAB3GAP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1266089	NM_012233.3(RAB3GAP1):c.363-335TC[6]	RAB3GAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1253513	NM_012233.3(RAB3GAP1):c.363-325_363-314del	RAB3GAP1	Deletion (intron variant)	not provided	GBenign
Select item 1193458	NM_012233.3(RAB3GAP1):c.363-323_363-314del	RAB3GAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1214379	NM_012233.3(RAB3GAP1):c.363-319_363-312del	RAB3GAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1187054	NM_012233.3(RAB3GAP1):c.363-319_363-314del	RAB3GAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1215537	NM_012233.3(RAB3GAP1):c.363-319T>A	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284054	NM_012233.3(RAB3GAP1):c.363-316CA[19]	RAB3GAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1259430	NM_012233.3(RAB3GAP1):c.363-316CA[18]	RAB3GAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1194372	NM_012233.3(RAB3GAP1):c.363-316_363-315insTCACACAC	RAB3GAP1	Insertion (intron variant)	not provided	GLikely benign
Select item 1281686	NM_012233.3(RAB3GAP1):c.363-316CA[13]	RAB3GAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1235576	NM_012233.3(RAB3GAP1):c.363-316CA[15]	RAB3GAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1204295	NM_012233.3(RAB3GAP1):c.363-316CA[16]	RAB3GAP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1292032	NM_012233.3(RAB3GAP1):c.363-315A>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221350	NM_012233.3(RAB3GAP1):c.363-313A>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191049	NM_012233.3(RAB3GAP1):c.363-309A>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250913	NM_012233.3(RAB3GAP1):c.363-307A>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2856846	NM_012233.3(RAB3GAP1):c.363-12T>A	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 331119	NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 423371	NM_012233.3(RAB3GAP1):c.373C>T (p.Arg125Cys)	RAB3GAP1 (R125C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1935565	NM_012233.3(RAB3GAP1):c.381C>T (p.Phe127=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436466	NM_012233.3(RAB3GAP1):c.382G>A (p.Val128Met)	RAB3GAP1 (V128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 331120	NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	Warburg micro syndrome	GUncertain significance
Select item 1898744	NM_012233.3(RAB3GAP1):c.394C>T (p.Pro132Ser)	RAB3GAP1 (P132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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