"Illumina Laboratory Services, Illumina"[submitter] AND "RAB3GAP1"[gen - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130060	NM_012233.2(RAB3GAP1):c.-53C>G	RAB3GAP1	Single nucleotide variant	Warburg micro syndrome	GLikely benign
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 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 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 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 448153	NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 130070	NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 331120	NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	Warburg micro syndrome	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 130071	NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe)	RAB3GAP1 (L223F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 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 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 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 130061	NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 331125	NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=)	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 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 893957	NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 1	GUncertain significance
Select item 391290	NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg)	RAB3GAP1 (P423R)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 130063	NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys)	RAB3GAP1 (Y442C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 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 130064	NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser)	RAB3GAP1 (N598S)	Single nucleotide variant (missense variant)	Martsolf syndrome 2 +3 more	GBenign
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 130065	NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	RAB3GAP1-related condition +3 more	GBenign
Select item 130066	NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln)	RAB3GAP1 (H669Q)	Single nucleotide variant (missense variant)	not provided +1 more	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 130067	NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	Martsolf syndrome 2 +4 more	GBenign
Select item 331130	NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp)	RAB3GAP1 (R759W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 130068	NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	RAB3GAP1-related condition +3 more	GBenign/Likely benign
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 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 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 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 436464	NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys)	RAB3GAP1 (R947C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 331131	NM_012233.3(RAB3GAP1):c.*135C>G	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 331133	NM_012233.3(RAB3GAP1):c.*171G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 331135	NM_012233.3(RAB3GAP1):c.*201T>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
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 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 331137	NM_012233.3(RAB3GAP1):c.*261dup	RAB3GAP1	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331138	NM_012233.3(RAB3GAP1):c.*283C>T	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome	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 331140	NM_012233.3(RAB3GAP1):c.*324T>G	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
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 331142	NM_012233.3(RAB3GAP1):c.*404C>T	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
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 331143	NM_012233.3(RAB3GAP1):c.*547A>G	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 894391	NM_012233.3(RAB3GAP1):c.*647T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
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 331144	NM_012233.3(RAB3GAP1):c.*985dup	RAB3GAP1	Duplication (3 prime UTR variant)	Warburg micro syndrome	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 331145	NM_012233.3(RAB3GAP1):c.*995T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
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 331146	NM_012233.3(RAB3GAP1):c.*1077T>C	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GBenign
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 331147	NM_012233.3(RAB3GAP1):c.*1208dup	RAB3GAP1	Duplication (3 prime UTR variant)	Warburg micro syndrome	GUncertain significance
Select item 331148	NM_012233.3(RAB3GAP1):c.*1208del	RAB3GAP1	Deletion (3 prime UTR variant)	Warburg micro syndrome	GBenign
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 892948	NM_012233.3(RAB3GAP1):c.*1212A>G	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 892950	NM_012233.3(RAB3GAP1):c.*1272T>C	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 331150	NM_012233.3(RAB3GAP1):c.*1397C>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 893173	NM_012233.3(RAB3GAP1):c.*1534G>A	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 331152	NM_012233.3(RAB3GAP1):c.*1611A>T	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	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 893175	NM_012233.3(RAB3GAP1):c.*1764C>G	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 893177	NM_012233.3(RAB3GAP1):c.*1898G>A	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 1	GUncertain significance
Select item 369310	NM_001172435.1(RAB3GAP1):c.*1941G>T	RAB3GAP1	Single nucleotide variant (genic downstream transcript variant)	Warburg micro syndrome	GLikely benign

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Items: 83