RAB18[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 1188524	NC_000010.11:g.27503917T>A	RAB18	Single nucleotide variant	not provided	GLikely benign
Select item 679850	NM_021252.4(RAB18):c.-443C>T	RAB18	Single nucleotide variant	not provided	GBenign
Select item 1231368	NC_000010.11:g.27504003C>T	LOC130003564, RAB18	Single nucleotide variant	not provided	GBenign
Select item 299808	NM_021252.4(RAB18):c.-182G>A	LOC130003564, RAB18	Single nucleotide variant	Warburg micro syndrome 3	GUncertain significance
Select item 879100	NM_021252.4(RAB18):c.-150G>A	LOC130003564, RAB18	Single nucleotide variant	Warburg micro syndrome 3	GUncertain significance
Select item 299809	NM_021252.4(RAB18):c.-144T>A	LOC130003564, RAB18	Single nucleotide variant	Warburg micro syndrome 3	GUncertain significance
Select item 299810	NM_021252.4(RAB18):c.-83C>A	RAB18	Single nucleotide variant	Warburg micro syndrome 3 +1 more	GBenign/Likely benign
Select item 299811	NM_021252.4(RAB18):c.-79T>A	RAB18	Single nucleotide variant	Warburg micro syndrome 3	GUncertain significance
Select item 299812	NM_021252.5(RAB18):c.-41A>G	RAB18	Single nucleotide variant (5 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299813	NM_021252.5(RAB18):c.-20C>T	RAB18	Single nucleotide variant (5 prime UTR variant +1 more)	Warburg micro syndrome 3 +1 more	GBenign/Likely benign
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 299814	NM_021252.5(RAB18):c.36C>A (p.Leu12=)	LOC130003565, RAB18	Single nucleotide variant (synonymous variant +1 more)	RAB18-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 299815	NM_021252.5(RAB18):c.68+10A>G	RAB18	Single nucleotide variant (intron variant)	Warburg micro syndrome 3	GUncertain significance
Select item 1198375	NM_021252.5(RAB18):c.68+264C>T	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668608	NM_021252.5(RAB18):c.69-130T>A	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217698	NM_021252.5(RAB18):c.69-124G>C	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 30247	NM_021252.5(RAB18):c.71T>A (p.Leu24Gln)	RAB18 (L24Q)	Single nucleotide variant (missense variant +1 more)	Warburg micro syndrome 3	GPathogenic
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 1533917	NM_021252.5(RAB18):c.93T>A (p.Asp31Glu)	RAB18 (D31E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 707597	NM_021252.5(RAB18):c.96G>T (p.Thr32=)	RAB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2147852	NM_021252.5(RAB18):c.105A>G (p.Pro35=)	RAB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026023	NM_021252.5(RAB18):c.117A>C (p.Ala39=)	RAB18	Single nucleotide variant (non-coding transcript variant +1 more)	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 1354557	NM_021252.5(RAB18):c.124+6C>T	RAB18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 668606	NM_021252.5(RAB18):c.125-92A>G	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
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 3027017	NM_021252.5(RAB18):c.150T>A (p.Ile50=)	RAB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1416085	NM_021252.5(RAB18):c.183A>G (p.Ile61Met)	RAB18 (I61M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233801	NM_021252.5(RAB18):c.186+57G>A	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673955	NM_021252.5(RAB18):c.186+78C>G	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187195	NM_021252.5(RAB18):c.186+83G>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 1236696	NM_021252.5(RAB18):c.187-171_187-167del	RAB18	Microsatellite (intron variant)	not provided	GBenign
Select item 676971	NM_021252.5(RAB18):c.187-76G>A	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676972	NM_021252.5(RAB18):c.187-41A>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 436456	NM_021252.5(RAB18):c.207G>A (p.Arg69=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
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 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 747347	NM_021252.5(RAB18):c.243A>T (p.Ala81=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 429446	NM_021252.5(RAB18):c.259+5G>A	RAB18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1298279	NM_021252.5(RAB18):c.259+242G>A	RAB18	Single nucleotide variant (intron 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 1595178	NM_021252.5(RAB18):c.260-15C>T	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037678	NM_021252.5(RAB18):c.260-11T>C	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 299816	NM_021252.5(RAB18):c.260-7dup	RAB18	Duplication (intron variant)	Warburg micro syndrome +4 more	GBenign
Select item 130058	NM_021252.5(RAB18):c.264T>C (p.Tyr88=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	RAB18-related disorder +2 more	GBenign/Likely benign
Select item 299817	NM_021252.5(RAB18):c.270C>A (p.Val90=)	RAB18	Single nucleotide variant (synonymous variant +2 more)	RAB18-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 30249	NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del)	RAB18 (R93del +1 more)	Microsatellite (inframe_deletion +2 more)	Warburg micro syndrome 3	GPathogenic
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 100768	NM_021252.5(RAB18):c.284C>G (p.Thr95Arg)	RAB18 (T95R +1 more)	Single nucleotide variant (missense variant +2 more)	Warburg micro syndrome 3	GPathogenic
Select item 299818	NM_021252.5(RAB18):c.298G>C (p.Asp100His)	RAB18 (D100H +1 more)	Single nucleotide variant (missense variant +2 more)	Warburg micro syndrome 3	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 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 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 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 1233792	NM_021252.5(RAB18):c.378+34T>A	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
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 299819	NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr)	RAB18 (D132Y +2 more)	Single nucleotide variant (missense variant +2 more)	Warburg micro syndrome 3 +2 more	GUncertain significance
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 211975	NM_021252.5(RAB18):c.406G>A (p.Gly136Ser)	RAB18 (G136S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 747433	NM_021252.5(RAB18):c.445+9G>T	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 684031	NM_021252.5(RAB18):c.446-288C>T	RAB18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2724260	NM_021252.5(RAB18):c.446-12C>G	RAB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 299820	NM_021252.5(RAB18):c.454G>A (p.Ala152Thr)	RAB18 (A152T +2 more)	Single nucleotide variant (missense variant +2 more)	Warburg micro syndrome 3	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 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 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
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 915279	NM_021252.5(RAB18):c.549del (p.Gly184fs)	RAB18 (G120fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 130059	NM_021252.5(RAB18):c.592G>A (p.Ala198Thr)	RAB18 (A198T +2 more)	Single nucleotide variant (missense variant +2 more)	RAB18-related disorder +3 more	GBenign
Select item 30250	NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)	RAB18	Single nucleotide variant (stop lost +2 more)	Warburg micro syndrome 3	GPathogenic
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 299821	NM_021252.5(RAB18):c.*16A>G	RAB18	Single nucleotide variant (3 prime UTR variant +2 more)	Warburg micro syndrome	GUncertain significance
Select item 299822	NM_021252.5(RAB18):c.*62C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299823	NM_021252.5(RAB18):c.*99C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
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 299824	NM_021252.5(RAB18):c.*150C>T	RAB18	Single nucleotide variant (non-coding transcript variant +1 more)	Warburg micro syndrome	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 299825	NM_021252.5(RAB18):c.*254A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GLikely benign
Select item 299826	NM_021252.5(RAB18):c.*278A>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3 +1 more	GBenign/Likely benign
Select item 299827	NM_021252.5(RAB18):c.*325C>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299828	NM_021252.5(RAB18):c.*382C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299829	NM_021252.5(RAB18):c.*387C>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299830	NM_021252.5(RAB18):c.*402T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
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

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