ClinVar for MedGen (Select 1781286) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027364	NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs)	RAB3GAP1 (Q99fs)	Deletion (frameshift variant)	Warburg micro syndrome	GLikely pathogenic
Select item 369310	NM_001172435.1(RAB3GAP1):c.*1941G>T	RAB3GAP1	Single nucleotide variant (genic downstream transcript variant)	Warburg micro syndrome	GLikely benign
Select item 331148	NM_012233.3(RAB3GAP1):c.*1208del	RAB3GAP1	Deletion (3 prime UTR variant)	Warburg micro syndrome	GBenign
Select item 331147	NM_012233.3(RAB3GAP1):c.*1208dup	RAB3GAP1	Duplication (3 prime UTR variant)	Warburg micro syndrome	GUncertain significance
Select item 331144	NM_012233.3(RAB3GAP1):c.*985dup	RAB3GAP1	Duplication (3 prime UTR variant)	Warburg micro syndrome	GUncertain significance
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 331137	NM_012233.3(RAB3GAP1):c.*261dup	RAB3GAP1	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
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 299879	NM_021252.5(RAB18):c.3803_3804insT	RAB18	Insertion (3 prime UTR variant +1 more)	Warburg micro syndrome	GBenign
Select item 299877	NM_021252.5(RAB18):c.*3701GACT[1]	RAB18	Microsatellite (3 prime UTR variant +1 more)	Warburg micro syndrome	GUncertain significance
Select item 299875	NM_021252.5(RAB18):c.*3599dup	RAB18	Duplication (3 prime UTR variant +1 more)	Warburg micro syndrome	GUncertain significance
Select item 299869	NM_021252.5(RAB18):c.*3293del	RAB18	Deletion (non-coding transcript variant +1 more)	Warburg micro syndrome	GUncertain significance
Select item 299864	NM_021252.5(RAB18):c.3046_3047dup	RAB18	Duplication (3 prime UTR variant +1 more)	Warburg micro syndrome	GUncertain significance
Select item 299852	NM_021252.5(RAB18):c.*2030G>T	RAB18	Single nucleotide variant (3 prime UTR variant +1 more)	Warburg micro syndrome	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 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 299816	NM_021252.5(RAB18):c.260-7dup	RAB18	Duplication (intron variant)	Warburg micro syndrome +4 more	GBenign
Select item 295678	NM_012414.3(RAB3GAP2):c.-132G>A	RAB3GAP2	Single nucleotide variant	Martsolf syndrome +1 more	GUncertain significance
Select item 295675	NM_012414.4(RAB3GAP2):c.-78C>T	RAB3GAP2	Single nucleotide variant (5 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295668	NM_012414.4(RAB3GAP2):c.613-14del	RAB3GAP2	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 295667	NM_012414.4(RAB3GAP2):c.613-24dup	RAB3GAP2	Duplication (intron variant)	Warburg micro syndrome +3 more	GConflicting classifications of pathogenicity
Select item 295665	NM_012414.4(RAB3GAP2):c.812-6del	RAB3GAP2	Deletion (intron variant)	Warburg micro syndrome +3 more	GBenign
Select item 295654	NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2]	RAB3GAP2	Microsatellite (intron variant)	Warburg micro syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295650	NM_012414.4(RAB3GAP2):c.2416+8_2416+9del	RAB3GAP2	Deletion (intron variant)	Martsolf syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295641	NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln)	RAB3GAP2 (E1277Q)	Single nucleotide variant (missense variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295636	NM_012414.4(RAB3GAP2):c.*374T>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295632	NM_012414.4(RAB3GAP2):c.798_799dup	RAB3GAP2	Duplication (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295631	NM_012414.4(RAB3GAP2):c.*799dup	RAB3GAP2	Duplication (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295627	NM_012414.4(RAB3GAP2):c.*1144del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295626	NM_012414.4(RAB3GAP2):c.*1145del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295620	NM_012414.4(RAB3GAP2):c.1694_1695insACA	RAB3GAP2	Insertion (3 prime UTR variant)	Warburg micro syndrome +1 more	GLikely benign
Select item 295618	NM_012414.4(RAB3GAP2):c.*2090AAAT[2]	RAB3GAP2	Microsatellite (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295616	NM_012414.4(RAB3GAP2):c.*2210G>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295614	NM_012414.4(RAB3GAP2):c.2338_2339del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295612	NM_012414.4(RAB3GAP2):c.2392_2395dup	RAB3GAP2	Duplication (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295609	NM_012414.4(RAB3GAP2):c.*2512del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295608	NM_012414.4(RAB3GAP2):c.*2512dup	RAB3GAP2	Duplication (3 prime UTR variant)	Warburg micro syndrome +1 more	GLikely benign
Select item 295605	NM_012414.4(RAB3GAP2):c.2551_2552del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295602	NM_012414.4(RAB3GAP2):c.*2920CTT[1]	RAB3GAP2	Microsatellite (3 prime UTR variant)	Warburg micro syndrome +1 more	GBenign
Select item 295601	NM_012414.3(RAB3GAP2):c.2970_2973dup	RAB3GAP2	Duplication	Warburg micro syndrome +1 more	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 130060	NM_012233.2(RAB3GAP1):c.-53C>G	RAB3GAP1	Single nucleotide variant	Warburg micro syndrome	GLikely benign

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Items: 42