ClinVar for MedGen (Select 481833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1225483	NM_021252.5(RAB18):c.260-43_260-42del	RAB18	Deletion (intron variant)	Warburg micro syndrome 3 +1 more	GBenign
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 299882	NM_021252.5(RAB18):c.*4039A>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299881	NM_021252.5(RAB18):c.*3939A>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299880	NM_021252.5(RAB18):c.*3927A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299878	NM_021252.5(RAB18):c.*3729G>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299876	NM_021252.5(RAB18):c.*3696T>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299874	NM_021252.5(RAB18):c.*3584C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299873	NM_021252.5(RAB18):c.*3559C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299872	NM_021252.5(RAB18):c.*3484T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299871	NM_021252.5(RAB18):c.*3476A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299870	NM_021252.5(RAB18):c.*3453G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299868	NM_021252.5(RAB18):c.*3193C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299867	NM_021252.5(RAB18):c.*3167G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299866	NM_021252.5(RAB18):c.*3166C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299865	NM_021252.5(RAB18):c.*3129C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299863	NM_021252.5(RAB18):c.*2974C>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GLikely benign
Select item 299862	NM_021252.5(RAB18):c.*2943A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299861	NM_021252.5(RAB18):c.*2862T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299860	NM_021252.5(RAB18):c.*2788C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299859	NM_021252.5(RAB18):c.*2744C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299858	NM_021252.5(RAB18):c.*2529G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299857	NM_021252.5(RAB18):c.*2476G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299856	NM_021252.5(RAB18):c.*2449A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299855	NM_021252.5(RAB18):c.*2420C>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299854	NM_021252.5(RAB18):c.*2375A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299853	NM_021252.5(RAB18):c.*2242A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GLikely benign
Select item 299851	NM_021252.5(RAB18):c.*1943G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299850	NM_021252.5(RAB18):c.*1895G>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299849	NM_021252.5(RAB18):c.*1845G>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299848	NM_021252.5(RAB18):c.*1696T>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299847	NM_021252.5(RAB18):c.*1680A>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299846	NM_021252.5(RAB18):c.*1542T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299845	NM_021252.5(RAB18):c.*1502G>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299844	NM_021252.5(RAB18):c.*1488A>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299843	NM_021252.5(RAB18):c.*1412C>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299842	NM_021252.5(RAB18):c.*1141T>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299841	NM_021252.5(RAB18):c.*1136G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299840	NM_021252.5(RAB18):c.*1089C>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299839	NM_021252.5(RAB18):c.*992C>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299838	NM_021252.5(RAB18):c.*956A>C	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299837	NM_021252.5(RAB18):c.*890G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299836	NM_021252.5(RAB18):c.*764A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299835	NM_021252.5(RAB18):c.*758A>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299834	NM_021252.5(RAB18):c.*757G>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GBenign
Select item 299833	NM_021252.5(RAB18):c.*741A>G	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299832	NM_021252.5(RAB18):c.*557G>A	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome 3	GUncertain significance
Select item 299831	NM_021252.5(RAB18):c.*504A>G	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)	not provided +1 more	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 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 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 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 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 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 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 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 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 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 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 299816	NM_021252.5(RAB18):c.260-7dup	RAB18	Duplication (intron variant)	Warburg micro syndrome +4 more	GBenign

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