ClinVar for MedGen (Select 333142) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065165	NM_012233.3(RAB3GAP1):c.991T>C (p.Phe331Leu)	RAB3GAP1 (F331L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 3061955	NM_012233.3(RAB3GAP1):c.2710-1G>A	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	Warburg micro syndrome 1	GPathogenic
Select item 2628349	NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)	RAB3GAP1 (P416fs)	Deletion (frameshift variant)	Warburg micro syndrome 1	GPathogenic
Select item 2627444	NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)	RAB3GAP1 (C181fs)	Duplication (frameshift variant)	Warburg micro syndrome 1	GLikely pathogenic
Select item 2583158	NM_012233.3(RAB3GAP1):c.2290-17_2290del	RAB3GAP1	Deletion (inframe_indel +1 more)	Warburg micro syndrome 1	GLikely pathogenic
Select item 2579267	GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1	RAB3GAP1	Copy number loss	Warburg micro syndrome 1	GUncertain significance
Select item 2574155	NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)	RAB3GAP1 (Y951* +1 more)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 2444049	NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs)	RAB3GAP1 (W481fs)	Microsatellite (frameshift variant)	Warburg micro syndrome 1	GPathogenic
Select item 2438030	NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)	RAB3GAP1 (R392*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2412768	NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)	RAB3GAP1 (L798fs)	Microsatellite (frameshift variant)	Warburg micro syndrome 1	GLikely pathogenic
Select item 2049610	NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)	RAB3GAP1	Deletion (nonsense)	not provided +1 more	GPathogenic
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 1339002	NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter)	RAB3GAP1 (S400*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GLikely pathogenic
Select item 1177056	NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer)	RAB3GAP1	Indel (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 1162291	NC_000002.12:g.(?_135052292)_(135176396_?)del	LOC111562379, SNORA40B +2 more	Deletion	Warburg micro syndrome 1	GPathogenic
Select item 1047919	NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter)	RAB3GAP1 (Q518*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 1029183	NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg)	RAB3GAP1 (K459R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 894394	NM_012233.3(RAB3GAP1):c.*1056G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 894393	NM_012233.3(RAB3GAP1):c.*992G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
Select item 894392	NM_012233.3(RAB3GAP1):c.*822T>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 894391	NM_012233.3(RAB3GAP1):c.*647T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 894390	NM_012233.3(RAB3GAP1):c.*557T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 894358	NM_012233.3(RAB3GAP1):c.1924-3C>T	RAB3GAP1	Single nucleotide variant (intron variant)	Warburg micro syndrome 1 +1 more	GUncertain significance
Select item 894357	NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys)	RAB3GAP1 (R530C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893987	NM_012233.3(RAB3GAP1):c.*507A>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893986	NM_012233.3(RAB3GAP1):c.*255T>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893957	NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893956	NM_012233.3(RAB3GAP1):c.1153C>G (p.His385Asp)	RAB3GAP1 (H385D)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893722	NM_012233.3(RAB3GAP1):c.2831C>A (p.Thr944Asn)	RAB3GAP1 (T944N +1 more)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893721	NM_012233.3(RAB3GAP1):c.2800C>A (p.Pro934Thr)	RAB3GAP1 (P934T +1 more)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893685	NM_012233.3(RAB3GAP1):c.850A>G (p.Thr284Ala)	RAB3GAP1 (T284A)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893177	NM_012233.3(RAB3GAP1):c.*1898G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893176	NM_012233.3(RAB3GAP1):c.*1826G>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
Select item 893175	NM_012233.3(RAB3GAP1):c.*1764C>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893174	NM_012233.3(RAB3GAP1):c.*1543T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 893173	NM_012233.3(RAB3GAP1):c.*1534G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 892950	NM_012233.3(RAB3GAP1):c.*1272T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 892949	NM_012233.3(RAB3GAP1):c.*1247T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 892948	NM_012233.3(RAB3GAP1):c.*1212A>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 892947	NM_012233.3(RAB3GAP1):c.*1209T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 892946	NM_012233.3(RAB3GAP1):c.*1107A>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 892913	NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln)	RAB3GAP1 (R847Q)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
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 892873	NM_012233.3(RAB3GAP1):c.-4C>T	RAB3GAP1	Single nucleotide variant (5 prime UTR variant)	RAB3GAP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 800891	NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)	RAB3GAP1 (R187*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 800519	NM_012233.3(RAB3GAP1):c.1555-1G>A	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	Warburg micro syndrome 1	GPathogenic
Select item 772447	NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala)	RAB3GAP1 (P934A +1 more)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1 +1 more	GBenign
Select item 635325	NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter)	RAB3GAP1 (Y636*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 623319	NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter)	RAB3GAP1 (E831*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 623318	NM_012233.3(RAB3GAP1):c.1237-2A>G	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	Warburg micro syndrome 1	GPathogenic
Select item 591696	NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)	RAB3GAP1 (L829*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 561095	NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter)	RAB3GAP1 (G157*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 560923	NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)	RAB3GAP1 (S437*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 545411	NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs)	RAB3GAP1 (P963fs +1 more)	Insertion (frameshift variant)	Warburg micro syndrome 1	Gnot provided
Select item 545410	NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)	RAB3GAP1 (R347*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 545409	NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro)	RAB3GAP1 (R187P)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	Gnot provided
Select item 522788	NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter)	RAB3GAP1 (K144*)	Duplication (nonsense)	Warburg micro syndrome 1	GPathogenic/Likely pathogenic
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 436467	NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp)	RAB3GAP1	Single nucleotide variant (stop lost)	not specified +3 more	GUncertain significance
Select item 436464	NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys)	RAB3GAP1 (R947C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 420527	NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)	RAB3GAP1 (I211fs)	Insertion (frameshift variant)	Warburg micro syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 391290	NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg)	RAB3GAP1 (P423R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 376815	NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln)	RAB3GAP1 (R778Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 331153	NM_012233.3(RAB3GAP1):c.*1693G>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331152	NM_012233.3(RAB3GAP1):c.*1611A>T	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331151	NM_012233.3(RAB3GAP1):c.*1511G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331150	NM_012233.3(RAB3GAP1):c.*1397C>T	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331149	NM_012233.3(RAB3GAP1):c.*1378T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
Select item 331146	NM_012233.3(RAB3GAP1):c.*1077T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
Select item 331145	NM_012233.3(RAB3GAP1):c.*995T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
Select item 331143	NM_012233.3(RAB3GAP1):c.*547A>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331142	NM_012233.3(RAB3GAP1):c.*404C>T	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
Select item 331141	NM_012233.3(RAB3GAP1):c.*346G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331140	NM_012233.3(RAB3GAP1):c.*324T>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331139	NM_012233.3(RAB3GAP1):c.*303G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1 +1 more	GLikely benign
Select item 331136	NM_012233.3(RAB3GAP1):c.*252T>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331135	NM_012233.3(RAB3GAP1):c.*201T>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331134	NM_012233.3(RAB3GAP1):c.*174T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331133	NM_012233.3(RAB3GAP1):c.*171G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331132	NM_012233.3(RAB3GAP1):c.*170C>T	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GLikely benign
Select item 331131	NM_012233.3(RAB3GAP1):c.*135C>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331130	NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp)	RAB3GAP1 (R759W)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331129	NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331128	NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val)	RAB3GAP1 (L561V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 331127	NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu)	RAB3GAP1 (P436L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1 +2 more	GLikely benign
Select item 331126	NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln)	RAB3GAP1 (R392Q)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331125	NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331124	NM_012233.3(RAB3GAP1):c.1079T>C (p.Ile360Thr)	RAB3GAP1 (I360T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 331123	NM_012233.3(RAB3GAP1):c.1048T>C (p.Phe350Leu)	RAB3GAP1 (F350L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 331122	NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln)	RAB3GAP1 (R315Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 331121	NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 211979	NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter)	RAB3GAP1 (L881*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 211978	NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)	RAB3GAP1 (R336C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 191126	NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)	RAB3GAP1 (R337*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 130072	NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val)	RAB3GAP1 (I305V)	Single nucleotide variant (missense variant)	RAB3GAP1-related condition +3 more	GBenign
Select item 130071	NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe)	RAB3GAP1 (L223F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130070	NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

<< First< Prev

Page of 2