ClinVar for Gene (Select 22931) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312101	NM_021252.5(RAB18):c.13G>T (p.Val5Leu)	LOC130003565, RAB18 (V5L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3312099	NM_021252.5(RAB18):c.394G>A (p.Asp132Asn)	RAB18 (D68N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3245041	NC_000010.10:g.(?_27294519)_(28250664_?)dup	ACBD5, ANKRD26 +6 more	Duplication	not provided	GUncertain significance
Select item 3150618	NM_021252.5(RAB18):c.335G>A (p.Arg112Lys)	RAB18 (R112K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3150617	NM_021252.5(RAB18):c.299A>C (p.Asp100Ala)	RAB18 (D129A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 3041076	NM_021252.5(RAB18):c.174A>G (p.Lys58=)	RAB18	Single nucleotide variant (synonymous variant)	RAB18-related disorder	GLikely benign
Select item 3030343	NM_021252.5(RAB18):c.379-2A>G	RAB18	Single nucleotide variant (splice acceptor variant +1 more)	RAB18-related disorder	GUncertain significance
Select item 3029842	NM_021252.5(RAB18):c.393C>T (p.Val131=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	RAB18-related disorder	GLikely benign
Select item 3027078	NM_021252.5(RAB18):c.338A>G (p.Asn113Ser)	RAB18 (N113S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3027017	NM_021252.5(RAB18):c.150T>A (p.Ile50=)	RAB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026023	NM_021252.5(RAB18):c.117A>C (p.Ala39=)	RAB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875520	NM_021252.5(RAB18):c.276_277del (p.Asp94fs)	RAB18 (D123fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2860337	NM_021252.5(RAB18):c.230A>G (p.Tyr77Cys)	RAB18 (Y106C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2724260	NM_021252.5(RAB18):c.446-12C>G	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689853	NM_021252.5(RAB18):c.199C>G (p.Gln67Glu)	RAB18 (Q67E +1 more)	Single nucleotide variant (missense variant +2 more)	Warburg micro syndrome 3	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2470283	NM_021252.5(RAB18):c.358G>A (p.Val120Ile)	RAB18 (V120I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2435348	NM_021252.5(RAB18):c.103C>T (p.Pro35Ser)	RAB18 (P35S)	Single nucleotide variant (missense variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 2427285	NC_000010.10:g.(?_26993586)_(28391597_?)dup	RAB18, YME1L1 +9 more	Duplication	not provided	GUncertain significance
Select item 2317690	NM_021252.5(RAB18):c.232T>C (p.Tyr78His)	RAB18 (Y107H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2287868	NM_021252.5(RAB18):c.7G>C (p.Glu3Gln)	RAB18 (E3Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2147852	NM_021252.5(RAB18):c.105A>G (p.Pro35=)	RAB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2081730	NM_021252.5(RAB18):c.477A>G (p.Gln159=)	RAB18 (N137S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2053278	NM_021252.5(RAB18):c.532A>T (p.Ser178Cys)	RAB18 (K155N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2037678	NM_021252.5(RAB18):c.260-11T>C	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1699746	NM_021252.5(RAB18):c.85A>C (p.Thr29Pro)	RAB18 (T29P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1639998	NM_021252.5(RAB18):c.70C>T (p.Leu24=)	RAB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1595178	NM_021252.5(RAB18):c.260-15C>T	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574020	NM_021252.5(RAB18):c.396T>C (p.Asp132=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1533917	NM_021252.5(RAB18):c.93T>A (p.Asp31Glu)	RAB18 (D31E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1416085	NM_021252.5(RAB18):c.183A>G (p.Ile61Met)	RAB18 (I61M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354557	NM_021252.5(RAB18):c.124+6C>T	RAB18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1340583	GRCh37/hg19 10p12.1(chr10:27204530-29105882)x1	ACBD5, ANKRD26 +9 more	Copy number loss	not provided	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1336855	NM_021252.5(RAB18):c.452G>A (p.Ser151Asn)	RAB18 (S151N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1307544	NM_021252.5(RAB18):c.95C>T (p.Thr32Met)	RAB18 (T32M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1298279	NM_021252.5(RAB18):c.259+242G>A	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236696	NM_021252.5(RAB18):c.187-171_187-167del	RAB18	Microsatellite (intron variant)	not provided	GBenign
Select item 1233801	NM_021252.5(RAB18):c.186+57G>A	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233792	NM_021252.5(RAB18):c.378+34T>A	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231368	NC_000010.11:g.27504003C>T	LOC130003564, RAB18	Single nucleotide variant	not provided	GBenign
Select item 1225919	NM_021252.5(RAB18):c.260-171del	RAB18	Deletion (intron variant)	not provided	GBenign
Select item 1225483	NM_021252.5(RAB18):c.260-43_260-42del	RAB18	Deletion (intron variant)	Warburg micro syndrome 3 +1 more	GBenign
Select item 1217698	NM_021252.5(RAB18):c.69-124G>C	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212597	NM_021252.5(RAB18):c.186+290T>G	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205404	NM_021252.5(RAB18):c.148A>G (p.Ile50Val)	RAB18 (I50V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1198375	NM_021252.5(RAB18):c.68+264C>T	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188524	NC_000010.11:g.27503917T>A	RAB18	Single nucleotide variant	not provided	GLikely benign
Select item 1187195	NM_021252.5(RAB18):c.186+83G>C	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185888	NM_021252.5(RAB18):c.445+229A>G	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175768	NM_021252.5(RAB18):c.121A>G (p.Ile41Val)	RAB18 (I41V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 980365	GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1	MASTL, MKX +7 more	Copy number loss	not provided	GUncertain significance
Select item 915279	NM_021252.5(RAB18):c.549del (p.Gly184fs)	RAB18 (G120fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 880448	NM_021252.5(RAB18):c.*4185G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 880447	NM_021252.5(RAB18):c.*4131A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 880446	NM_021252.5(RAB18):c.*4038A>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 880445	NM_021252.5(RAB18):c.*4008C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3 +1 more	GUncertain significance
Select item 880444	NM_021252.5(RAB18):c.*3967T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 880404	NM_021252.5(RAB18):c.*2327T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 880356	NM_021252.5(RAB18):c.*946G>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 880355	NM_021252.5(RAB18):c.*906A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 880354	NM_021252.5(RAB18):c.*822T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879259	NM_021252.5(RAB18):c.*3906G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879258	NM_021252.5(RAB18):c.*3832C>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879257	NM_021252.5(RAB18):c.*3766C>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879202	NM_021252.5(RAB18):c.*2302A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GLikely benign
Select item 879201	NM_021252.5(RAB18):c.*2085A>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879200	NM_021252.5(RAB18):c.*1842A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879199	NM_021252.5(RAB18):c.*1800A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879153	NM_021252.5(RAB18):c.*635G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879152	NM_021252.5(RAB18):c.*560C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 879151	NM_021252.5(RAB18):c.*448G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 879100	NM_021252.4(RAB18):c.-150G>A	LOC130003564, RAB18	Single nucleotide variant	Warburg micro syndrome 3	GUncertain significance
Select item 878658	NM_021252.5(RAB18):c.*3543G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 878657	NM_021252.5(RAB18):c.*3521C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 878656	NM_021252.5(RAB18):c.*3330G>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 878655	NM_021252.5(RAB18):c.*3227A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 878654	NM_021252.5(RAB18):c.*3222C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 878603	NM_021252.5(RAB18):c.*1779A>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 878602	NM_021252.5(RAB18):c.*1589T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 878601	NM_021252.5(RAB18):c.*1452G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 878561	NM_021252.5(RAB18):c.*419G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 878560	NM_021252.5(RAB18):c.*407G>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 877644	NM_021252.5(RAB18):c.*2985T>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 877586	NM_021252.5(RAB18):c.*1110A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 877585	NM_021252.5(RAB18):c.*1047T>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 877584	NM_021252.5(RAB18):c.*1041A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 877534	NM_021252.5(RAB18):c.*170T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GLikely benign
Select item 877533	NM_021252.5(RAB18):c.*150C>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 877532	NM_021252.5(RAB18):c.*8G>A	RAB18 (E188K)	Single nucleotide variant (3 prime UTR variant +2 more)	Warburg micro syndrome 3	GUncertain significance
Select item 877531	NM_021252.5(RAB18):c.422G>A (p.Arg141Gln)	RAB18 (R170Q +2 more)	Single nucleotide variant (missense variant +2 more)	Warburg micro syndrome 3	GUncertain significance
Select item 815325	GRCh37/hg19 10p12.1(chr10:27302866-28355945)x3	MKX, RAB18 +7 more	Copy number gain	not provided	GUncertain significance
Select item 783248	NM_021252.5(RAB18):c.462C>T (p.Thr154=)	RAB18 (P132L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 747433	NM_021252.5(RAB18):c.445+9G>T	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747347	NM_021252.5(RAB18):c.243A>T (p.Ala81=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 722674	NM_021252.5(RAB18):c.259+9T>A	RAB18	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 713649	NM_021252.5(RAB18):c.501A>G (p.Glu167=)	RAB18 (K145R)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity

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