Related gene-specific medical variations for Gene (Select 92344) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248025	NC_000001.10:g.(?_170501104)_(170508635_?)del	GORAB	Deletion	not provided	GPathogenic
Select item 3248024	NC_000001.10:g.(?_170501290)_(170511753_?)del	GORAB	Deletion	not provided	GPathogenic
Select item 3100989	NM_152281.3(GORAB):c.-39A>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2959941	NM_152281.3(GORAB):c.61+17A>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914500	NM_152281.3(GORAB):c.-13G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2840751	NM_152281.3(GORAB):c.53del (p.Gln18fs)	GORAB, GORAB-AS1 (Q18fs)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 2832462	NM_152281.3(GORAB):c.14G>A (p.Trp5Ter)	GORAB, GORAB-AS1 (W5*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 2830611	NM_152281.3(GORAB):c.61+1G>A	GORAB, GORAB-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2826473	NM_152281.3(GORAB):c.-11G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2782380	NM_152281.3(GORAB):c.57T>C (p.Thr19=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2779480	NM_152281.3(GORAB):c.61+8G>A	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768642	NM_152281.3(GORAB):c.42G>A (p.Arg14=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2766333	NM_152281.3(GORAB):c.7C>T (p.Gln3Ter)	GORAB, GORAB-AS1 (Q3*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2757894	NM_152281.3(GORAB):c.3G>A (p.Met1Ile)	GORAB, GORAB-AS1 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2744275	NM_152281.3(GORAB):c.61+15T>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735794	NM_152281.3(GORAB):c.-4G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2719265	NM_152281.3(GORAB):c.-25T>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2696073	NM_152281.3(GORAB):c.-46G>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2695072	NM_152281.3(GORAB):c.24C>T (p.Phe8=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2593333	NM_152281.3(GORAB):c.-44C>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432233	NM_152281.3(GORAB):c.340A>T (p.Asn114Tyr)	GORAB (N114Y +1 more)	Single nucleotide variant (missense variant +2 more)	Geroderma osteodysplastica	GUncertain significance
Select item 2432232	NM_152281.3(GORAB):c.-24T>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 2125274	NM_152281.3(GORAB):c.-38G>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2060944	NM_152281.3(GORAB):c.-20G>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1981937	NM_152281.3(GORAB):c.-2C>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1955721	NM_152281.3(GORAB):c.-12T>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1936483	NM_152281.3(GORAB):c.-50T>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1915173	NM_152281.3(GORAB):c.27T>C (p.Ser9=)	GORAB-AS1, GORAB	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1667649	NM_152281.3(GORAB):c.-19G>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1639343	NM_152281.3(GORAB):c.61+7A>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569631	NM_152281.3(GORAB):c.-40G>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1564956	NM_152281.3(GORAB):c.61+17A>C	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1532757	NM_152281.3(GORAB):c.-46G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1518633	NM_152281.3(GORAB):c.-28C>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1490025	NM_152281.3(GORAB):c.-6G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1390022	NM_152281.3(GORAB):c.-15C>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1331084	NM_152281.3(GORAB):c.156G>T (p.Gly52=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	Geroderma osteodysplastica	GLikely benign
Select item 1269511	NM_152281.3(GORAB):c.61+97del	GORAB, GORAB-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1229402	NM_152281.3(GORAB):c.61+150A>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225317	NM_152281.3(GORAB):c.61+31C>T	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165685	NM_152281.3(GORAB):c.21A>C (p.Gly7=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1013262	NM_152281.3(GORAB):c.-21G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Geroderma osteodysplastica +2 more	GUncertain significance
Select item 931046	NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr)	GORAB, GORAB-AS1 (D21Y)	Single nucleotide variant (missense variant +2 more)	Geroderma osteodysplastica	GUncertain significance
Select item 876747	NM_152281.3(GORAB):c.61+13G>T	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	Geroderma osteodysplastica +1 more	GConflicting classifications of pathogenicity
Select item 876746	NM_152281.3(GORAB):c.-53C>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Geroderma osteodysplastica +1 more	GUncertain significance
Select item 876745	NM_152281.3(GORAB):c.-57T>C	GORAB-AS1, GORAB	Single nucleotide variant (5 prime UTR variant +1 more)	Geroderma osteodysplastica +1 more	GConflicting classifications of pathogenicity
Select item 804379	NM_152281.3(GORAB):c.5del (p.Ala2fs)	GORAB, GORAB-AS1 (A2fs)	Deletion (frameshift variant +2 more)	Geroderma osteodysplastica	GLikely pathogenic
Select item 780278	NM_152281.3(GORAB):c.21= (p.Gly7=)	GORAB, GORAB-AS1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 745570	NM_152281.3(GORAB):c.-49C>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 687061	GRCh37/hg19 1q24.2(chr1:170479108-170527028)x1	GORAB	Copy number loss	not provided	GUncertain significance
Select item 632087	NM_152281.3(GORAB):c.-48dup	GORAB, GORAB-AS1	Duplication (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 293648	NM_152281.3(GORAB):c.24C>G (p.Phe8Leu)	GORAB, GORAB-AS1 (F33L +1 more)	Single nucleotide variant (missense variant +2 more)	Geroderma osteodysplastica +1 more	GUncertain significance
Select item 92030	NM_152281.3(GORAB):c.1091C>G (p.Ser364Ter)	GORAB (S389* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2654	GORAB, 1-BP DEL, 257C	GORAB	Deletion	Geroderma osteodysplastica	GPathogenic

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Items: 54