ClinVar for MedGen (Select 208658) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247714	NC_000001.10:g.(?_220345211)_(220375736_?)dup	RAB3GAP2	Duplication	Martsolf syndrome +1 more	GLikely pathogenic
Select item 3247713	NC_000001.10:g.(?_220088791)_(220445679_?)dup	BPNT1, EPRS1 +5 more	Duplication	Martsolf syndrome +1 more	GUncertain significance
Select item 2953872	NM_012414.4(RAB3GAP2):c.1870+8G>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2953297	NM_012414.4(RAB3GAP2):c.1631+16T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2952909	NM_012414.4(RAB3GAP2):c.305-6T>A	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2952637	NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)	RAB3GAP2 (M1205fs)	Deletion (frameshift variant)	Warburg micro syndrome 2 +1 more	GPathogenic
Select item 2951925	NM_012414.4(RAB3GAP2):c.3257G>T (p.Arg1086Leu)	RAB3GAP2 (R1086L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2951662	NM_012414.4(RAB3GAP2):c.24C>T (p.Phe8=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2950201	NM_012414.4(RAB3GAP2):c.3198T>C (p.Phe1066=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2950120	NM_012414.4(RAB3GAP2):c.3558A>G (p.Gly1186=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2949493	NM_012414.4(RAB3GAP2):c.1779+16A>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2948154	NM_012414.4(RAB3GAP2):c.1631+10G>A	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2946965	NM_012414.4(RAB3GAP2):c.4164A>C (p.Ile1388=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2946580	NM_012414.4(RAB3GAP2):c.3942T>C (p.His1314=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2946390	NM_012414.4(RAB3GAP2):c.960+16A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2946378	NM_012414.4(RAB3GAP2):c.613-17T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2946105	NM_012414.4(RAB3GAP2):c.3555+16del	RAB3GAP2	Deletion (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2946025	NM_012414.4(RAB3GAP2):c.1927C>T (p.Leu643=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2945467	NM_012414.4(RAB3GAP2):c.1715-1G>A	RAB3GAP2	Single nucleotide variant (splice acceptor variant)	Warburg micro syndrome 2 +1 more	GLikely pathogenic
Select item 2945314	NM_012414.4(RAB3GAP2):c.3744A>G (p.Lys1248=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2945185	NM_012414.4(RAB3GAP2):c.1779+11A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2940927	NM_012414.4(RAB3GAP2):c.2546C>T (p.Ala849Val)	RAB3GAP2 (A849V)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2940590	NM_012414.4(RAB3GAP2):c.2163G>T (p.Lys721Asn)	RAB3GAP2 (K721N)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2939881	NM_012414.4(RAB3GAP2):c.462C>A (p.Thr154=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2937885	NM_012414.4(RAB3GAP2):c.2220C>A (p.Phe740Leu)	RAB3GAP2 (F740L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2937884	NM_012414.4(RAB3GAP2):c.3145G>A (p.Val1049Ile)	RAB3GAP2 (V1049I)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2936571	NM_012414.4(RAB3GAP2):c.180+18T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2936216	NM_012414.4(RAB3GAP2):c.115+12T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2933804	NM_012414.4(RAB3GAP2):c.3945G>A (p.Ala1315=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2932400	NM_012414.4(RAB3GAP2):c.2721G>A (p.Gly907=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2932370	NM_012414.4(RAB3GAP2):c.811+17C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2931937	NM_012414.4(RAB3GAP2):c.510+17A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2931903	NM_012414.4(RAB3GAP2):c.1995T>C (p.Asp665=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2931793	NM_012414.4(RAB3GAP2):c.3186A>G (p.Leu1062=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2931720	NM_012414.4(RAB3GAP2):c.29A>G (p.Tyr10Cys)	RAB3GAP2 (Y10C)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2930795	NM_012414.4(RAB3GAP2):c.304+19T>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2930792	NM_012414.4(RAB3GAP2):c.3152A>G (p.Asn1051Ser)	RAB3GAP2 (N1051S)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2930528	NM_012414.4(RAB3GAP2):c.960+17T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2929929	NM_012414.4(RAB3GAP2):c.1884T>C (p.Val628=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2929443	NM_012414.4(RAB3GAP2):c.305-16A>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2929392	NM_012414.4(RAB3GAP2):c.3155-8C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2927497	NM_012414.4(RAB3GAP2):c.2832G>A (p.Lys944=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2926757	NM_012414.4(RAB3GAP2):c.1076A>C (p.Glu359Ala)	RAB3GAP2 (E359A)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2926143	NM_012414.4(RAB3GAP2):c.3868-18C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2926007	NM_012414.4(RAB3GAP2):c.546G>A (p.Glu182=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2924807	NM_012414.4(RAB3GAP2):c.712+18A>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2924601	NM_012414.4(RAB3GAP2):c.4026+7A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2924285	NM_012414.4(RAB3GAP2):c.2946A>G (p.Val982=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2924218	NM_012414.4(RAB3GAP2):c.3262-4dup	RAB3GAP2	Duplication (intron variant)	Martsolf syndrome +1 more	GBenign
Select item 2924066	NM_012414.4(RAB3GAP2):c.4113A>G (p.Lys1371=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2923941	NM_012414.4(RAB3GAP2):c.4027-15G>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2923749	NM_012414.4(RAB3GAP2):c.517G>A (p.Val173Met)	RAB3GAP2 (V173M)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2923335	NM_012414.4(RAB3GAP2):c.1761C>T (p.Tyr587=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2923104	NM_012414.4(RAB3GAP2):c.4026+12A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2922907	NM_012414.4(RAB3GAP2):c.4038C>T (p.Asp1346=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2922650	NM_012414.4(RAB3GAP2):c.3088-9G>A	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2922613	NM_012414.4(RAB3GAP2):c.933A>G (p.Pro311=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2922472	NM_012414.4(RAB3GAP2):c.435-15T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2921941	NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)	RAB3GAP2 (M114fs)	Deletion (frameshift variant)	Martsolf syndrome +1 more	GPathogenic
Select item 2622934	NM_012414.4(RAB3GAP2):c.206C>T (p.Thr69Ile)	RAB3GAP2 (T69I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2425804	NC_000001.10:g.(?_218520044)_(220986760_?)del	MTARC2, RAB3GAP2 +11 more	Deletion	Martsolf syndrome +1 more	GPathogenic
Select item 2425803	NC_000001.10:g.(?_220088791)_(220406225_?)dup	BPNT1, EPRS1 +5 more	Duplication	Martsolf syndrome +1 more	GUncertain significance
Select item 2425802	NC_000001.10:g.(?_220330592)_(220335630_?)del	RAB3GAP2	Deletion	Martsolf syndrome +1 more	GPathogenic
Select item 2417970	NM_012414.4(RAB3GAP2):c.1346T>A (p.Phe449Tyr)	RAB3GAP2 (F449Y)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2415504	NM_012414.4(RAB3GAP2):c.1348dup (p.Ser450fs)	RAB3GAP2 (S450fs)	Duplication (frameshift variant)	Warburg micro syndrome 2 +1 more	GPathogenic
Select item 2414648	NM_012414.4(RAB3GAP2):c.1999-2del	RAB3GAP2	Deletion (splice acceptor variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2219589	NM_012414.4(RAB3GAP2):c.2170C>G (p.Leu724Val)	RAB3GAP2 (L724V)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +2 more	GUncertain significance
Select item 2201686	NM_012414.4(RAB3GAP2):c.3693C>T (p.Ala1231=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2201409	NM_012414.4(RAB3GAP2):c.3396C>T (p.Leu1132=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2200953	NM_012414.4(RAB3GAP2):c.3088-16T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2200695	NM_012414.4(RAB3GAP2):c.3012T>C (p.Pro1004=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2200089	NM_012414.4(RAB3GAP2):c.408A>G (p.Leu136=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2200039	NM_012414.4(RAB3GAP2):c.157G>A (p.Glu53Lys)	RAB3GAP2 (E53K)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2198884	NM_012414.4(RAB3GAP2):c.2853C>G (p.Phe951Leu)	RAB3GAP2 (F951L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2198846	NM_012414.4(RAB3GAP2):c.3399C>T (p.Ser1133=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2197186	NM_012414.4(RAB3GAP2):c.3586T>A (p.Ser1196Thr)	RAB3GAP2 (S1196T)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2196893	NM_012414.4(RAB3GAP2):c.3563A>C (p.Asn1188Thr)	RAB3GAP2 (N1188T)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2196024	NM_012414.4(RAB3GAP2):c.4059A>C (p.Pro1353=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2195815	NM_012414.4(RAB3GAP2):c.2525A>G (p.His842Arg)	RAB3GAP2 (H842R)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2195312	NM_012414.4(RAB3GAP2):c.1715-20_1715-17del	RAB3GAP2	Deletion (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2195106	NM_012414.4(RAB3GAP2):c.2980+7C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2194524	NM_012414.4(RAB3GAP2):c.972A>G (p.Gln324=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2194520	NM_012414.4(RAB3GAP2):c.3226-17T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2194280	NM_012414.4(RAB3GAP2):c.72C>T (p.His24=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2193559	NM_012414.4(RAB3GAP2):c.613-6A>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2193189	NM_012414.4(RAB3GAP2):c.1131-7A>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2193003	NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)	RAB3GAP2 (R232*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 2 +1 more	GPathogenic
Select item 2191982	NM_012414.4(RAB3GAP2):c.2253C>T (p.Ser751=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2190570	NM_012414.4(RAB3GAP2):c.1424T>C (p.Leu475Ser)	RAB3GAP2 (L475S)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2189746	NM_012414.4(RAB3GAP2):c.2509G>T (p.Ala837Ser)	RAB3GAP2 (A837S)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2189477	NM_012414.4(RAB3GAP2):c.2717A>G (p.Lys906Arg)	RAB3GAP2 (K906R)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2187917	NM_012414.4(RAB3GAP2):c.4029C>A (p.Asp1343Glu)	RAB3GAP2 (D1343E)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2185972	NM_012414.4(RAB3GAP2):c.3704A>G (p.Lys1235Arg)	RAB3GAP2 (K1235R)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2184284	NM_012414.4(RAB3GAP2):c.1262T>C (p.Met421Thr)	RAB3GAP2 (M421T)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2184069	NM_012414.4(RAB3GAP2):c.1431G>A (p.Val477=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2182356	NM_012414.4(RAB3GAP2):c.2276T>C (p.Leu759Ser)	RAB3GAP2 (L759S)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2172796	NM_012414.4(RAB3GAP2):c.3336+9G>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2171436	NM_012414.4(RAB3GAP2):c.151G>C (p.Ala51Pro)	RAB3GAP2 (A51P)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2163776	NM_012414.4(RAB3GAP2):c.2978C>G (p.Pro993Arg)	RAB3GAP2 (P993R)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2162306	NM_012414.4(RAB3GAP2):c.3087+11C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign

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