"GeneDx"[submitter] AND "RAB3GAP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 211989	NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)	RAB3GAP2 (I1354V)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1215487	NM_012414.4(RAB3GAP2):c.4027-5T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +2 more	GLikely benign
Select item 1292637	NM_012414.4(RAB3GAP2):c.4026+59G>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518168	NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 706153	NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1307709	NM_012414.4(RAB3GAP2):c.3961A>G (p.Thr1321Ala)	RAB3GAP2 (T1321A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064743	NM_012414.4(RAB3GAP2):c.3956C>T (p.Thr1319Ile)	RAB3GAP2 (T1319I)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GUncertain significance
Select item 211988	NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1248985	NM_012414.4(RAB3GAP2):c.3868-31C>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +2 more	GBenign
Select item 1207605	NM_012414.4(RAB3GAP2):c.3867+33C>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 295640	NM_012414.4(RAB3GAP2):c.3867+13C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +2 more	GConflicting classifications of pathogenicity
Select item 287196	NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)	RAB3GAP2 (Y1281C)	Single nucleotide variant (missense variant)	Martsolf syndrome +2 more	GConflicting classifications of pathogenicity
Select item 463031	NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile)	RAB3GAP2 (V1269I)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +2 more	GUncertain significance
Select item 432964	NM_012414.4(RAB3GAP2):c.3797G>A (p.Ser1266Asn)	RAB3GAP2 (S1266N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 676620	NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser)	RAB3GAP2 (P1253S)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 393011	NM_012414.4(RAB3GAP2):c.3701T>C (p.Val1234Ala)	RAB3GAP2 (V1234A)	Single nucleotide variant (missense variant)	Martsolf syndrome +2 more	GUncertain significance
Select item 705733	NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr)	RAB3GAP2 (D1206Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1292263	NM_012414.4(RAB3GAP2):c.3556-46del	RAB3GAP2	Deletion (intron variant)	not provided	GBenign
Select item 1212293	NM_012414.4(RAB3GAP2):c.3556-175T>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423025	NM_012414.4(RAB3GAP2):c.3538dup (p.Ser1180fs)	RAB3GAP2 (S1180fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 130080	NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +3 more	GBenign
Select item 295642	NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1305480	NM_012414.4(RAB3GAP2):c.3355G>A (p.Glu1119Lys)	RAB3GAP2 (E1119K)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +2 more	GUncertain significance
Select item 1308323	NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn)	RAB3GAP2 (D1114N)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +3 more	GUncertain significance
Select item 130079	NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr)	RAB3GAP2 (S1092T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 3377857	NM_012414.4(RAB3GAP2):c.3271A>G (p.Met1091Val)	RAB3GAP2 (M1091V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293227	NM_012414.4(RAB3GAP2):c.3262-80G>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228713	NM_012414.4(RAB3GAP2):c.3262-101A>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257064	NM_012414.4(RAB3GAP2):c.3261+176G>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202000	NM_012414.4(RAB3GAP2):c.3261+106G>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226232	NM_012414.4(RAB3GAP2):c.3226-77dup	RAB3GAP2	Duplication (intron variant)	not provided	GBenign
Select item 1258027	NM_012414.4(RAB3GAP2):c.3226-113C>T	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668611	NM_012414.4(RAB3GAP2):c.3225+110T>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432839	NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile)	RAB3GAP2 (M1057I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1237240	NM_012414.4(RAB3GAP2):c.3155-115A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185967	NM_012414.4(RAB3GAP2):c.3155-136A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203201	NM_012414.4(RAB3GAP2):c.3155-141A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675684	NM_012414.4(RAB3GAP2):c.3155-194C>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233698	NM_012414.4(RAB3GAP2):c.3154+278dup	RAB3GAP2	Duplication (intron variant)	not provided	GBenign
Select item 1191379	NM_012414.4(RAB3GAP2):c.3154+287del	RAB3GAP2	Deletion (intron variant)	not provided	GLikely benign
Select item 1230254	NM_012414.4(RAB3GAP2):c.3154+241dup	RAB3GAP2	Duplication (intron variant)	not provided	GBenign
Select item 1232318	NM_012414.4(RAB3GAP2):c.3154+259del	RAB3GAP2	Deletion (intron variant)	not provided	GBenign
Select item 514137	NM_012414.4(RAB3GAP2):c.3154+13A>T	RAB3GAP2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 295643	NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg)	RAB3GAP2 (H1048R)	Single nucleotide variant (missense variant)	Martsolf syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295644	NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val)	RAB3GAP2 (I1038V)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GUncertain significance
Select item 1302344	NM_012414.4(RAB3GAP2):c.3031G>A (p.Val1011Ile)	RAB3GAP2 (V1011I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383711	NM_012414.4(RAB3GAP2):c.2890G>C (p.Asp964His)	RAB3GAP2 (D964H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1325989	NM_012414.4(RAB3GAP2):c.2878A>G (p.Asn960Asp)	RAB3GAP2 (N960D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 423205	NM_012414.4(RAB3GAP2):c.2844dup (p.Gln949fs)	RAB3GAP2 (Q949fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2443461	NM_012414.4(RAB3GAP2):c.2807-8A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 295645	NM_012414.4(RAB3GAP2):c.2807-15G>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1201084	NM_012414.4(RAB3GAP2):c.2806+181C>T	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208853	NM_012414.4(RAB3GAP2):c.2786dup (p.Leu930fs)	RAB3GAP2 (L930fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 390793	NM_012414.4(RAB3GAP2):c.2778T>C (p.Ser926=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 391686	NM_012414.4(RAB3GAP2):c.2715C>T (p.Ser905=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 515550	NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +2 more	GLikely benign
Select item 130078	NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala)	RAB3GAP2 (T863A)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GBenign
Select item 1222869	NM_012414.4(RAB3GAP2):c.2578-170C>T	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193120	NM_012414.4(RAB3GAP2):c.2578-313A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673861	NM_012414.4(RAB3GAP2):c.2577+266G>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193585	NM_012414.4(RAB3GAP2):c.2577+176A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186159	NM_012414.4(RAB3GAP2):c.2577+79G>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 295648	NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile)	RAB3GAP2 (V843I)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +2 more	GUncertain significance
Select item 392325	NM_012414.4(RAB3GAP2):c.2461T>C (p.Trp821Arg)	RAB3GAP2 (W821R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1263789	NM_012414.4(RAB3GAP2):c.2417-181T>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186305	NM_012414.4(RAB3GAP2):c.2416+285T>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296111	NM_012414.4(RAB3GAP2):c.2416+119G>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178138	NM_012414.4(RAB3GAP2):c.2416+101T>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201540	NM_012414.4(RAB3GAP2):c.2311-83T>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267319	NM_012414.4(RAB3GAP2):c.2310+198dup	RAB3GAP2	Duplication (intron variant)	not provided	GBenign
Select item 1231942	NM_012414.4(RAB3GAP2):c.2310+165del	RAB3GAP2	Deletion (intron variant)	not provided	GBenign
Select item 235683	NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)	RAB3GAP2 (L764F)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1254758	NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu)	RAB3GAP2 (S761L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1208143	NM_012414.4(RAB3GAP2):c.2213-72G>T	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510718	NM_012414.4(RAB3GAP2):c.2212+15A>T	RAB3GAP2	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 1188577	NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val)	RAB3GAP2 (I726V)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GConflicting classifications of pathogenicity
Select item 295652	NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu)	RAB3GAP2 (V723E)	Single nucleotide variant (missense variant)	Martsolf syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1810057	NM_012414.4(RAB3GAP2):c.2143G>A (p.Glu715Lys)	RAB3GAP2 (E715K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189867	NM_012414.4(RAB3GAP2):c.2137T>G (p.Phe713Val)	RAB3GAP2 (F713V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130077	NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +3 more	GBenign
Select item 546418	NM_012414.4(RAB3GAP2):c.2030A>G (p.Lys677Arg)	RAB3GAP2 (K677R)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GUncertain significance
Select item 211984	NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)	RAB3GAP2 (L670V)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2428825	NM_012414.4(RAB3GAP2):c.2005G>T (p.Ala669Ser)	RAB3GAP2 (A669S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205053	NM_012414.4(RAB3GAP2):c.1998+331T>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244201	NM_012414.4(RAB3GAP2):c.1998+77A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311233	NM_012414.4(RAB3GAP2):c.1994A>C (p.Asp665Ala)	RAB3GAP2 (D665A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130076	NM_012414.4(RAB3GAP2):c.1792A>C (p.Ile598Leu)	RAB3GAP2 (I598L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295718	NM_012414.4(RAB3GAP2):c.1780-154C>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237302	NM_012414.4(RAB3GAP2):c.1780-264A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238472	NM_012414.4(RAB3GAP2):c.1779+263G>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295455	NM_012414.4(RAB3GAP2):c.1779+187del	RAB3GAP2	Deletion (intron variant)	not provided	GBenign
Select item 1293234	NM_012414.4(RAB3GAP2):c.1779+186_1779+187del	RAB3GAP2	Deletion (intron variant)	not provided	GBenign
Select item 130075	NM_012414.4(RAB3GAP2):c.1779+7G>A	RAB3GAP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 450519	NM_012414.4(RAB3GAP2):c.1762C>T (p.Pro588Ser)	RAB3GAP2 (P588S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509854	NM_012414.4(RAB3GAP2):c.1715-8del	RAB3GAP2	Deletion (intron variant)	not provided	GLikely benign
Select item 295657	NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser)	RAB3GAP2 (N570S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1045142	NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val)	RAB3GAP2 (M554V)	Single nucleotide variant (missense variant)	Martsolf syndrome +2 more	GUncertain significance
Select item 436476	NM_012414.4(RAB3GAP2):c.1657G>A (p.Asp553Asn)	RAB3GAP2 (D553N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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