ClinVar for PubMed (Select 19681135) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 34

	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 2993903	NM_152281.3(GORAB):c.210del (p.Lys70fs)	GORAB (K70fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2886885	NM_152281.3(GORAB):c.483del (p.Lys161fs)	GORAB (K6fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2872040	NM_152281.3(GORAB):c.216_217del (p.Arg72fs)	GORAB (R55fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 2870262	NM_152281.3(GORAB):c.409A>T (p.Lys137Ter)	GORAB (K120* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
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-AS1, GORAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2816721	NM_152281.3(GORAB):c.139C>T (p.Gln47Ter)	GORAB (Q30* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2792725	NC_000001.11:g.170532158_170532179dup	GORAB, GORAB-AS1	Duplication	not provided	GPathogenic
Select item 2791339	NM_152281.3(GORAB):c.206dup (p.Gln71fs)	GORAB (Q54fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2771740	NM_152281.3(GORAB):c.492dup (p.Ala165fs)	GORAB (A10fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 2753828	NM_152281.3(GORAB):c.221del (p.Asn74fs)	GORAB (N57fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2734028	NM_152281.3(GORAB):c.257del (p.Pro86fs)	GORAB (P86fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2734027	NM_152281.3(GORAB):c.136G>T (p.Glu46Ter)	GORAB (E29* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2722014	NM_152281.3(GORAB):c.301C>T (p.Gln101Ter)	GORAB (Q84* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2712315	NM_152281.2(GORAB):c.8G>A (p.Trp3Ter)	GORAB, GORAB-AS1 (W3*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2701309	NM_152281.3(GORAB):c.556_557del (p.Lys186fs)	GORAB (K169fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2700677	NM_152281.3(GORAB):c.453del (p.Glu152fs)	GORAB (E135fs +1 more)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2436670	NM_152281.3(GORAB):c.190C>T (p.Gln64Ter)	GORAB (Q64*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 2024831	NM_152281.3(GORAB):c.559del (p.Arg187fs)	GORAB (R32fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1703424	NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)	GORAB (R35*)	Single nucleotide variant (nonsense +2 more)	Geroderma osteodysplastica +2 more	GPathogenic
Select item 1457087	NC_000001.10:g.(?_169660781)_(170521603_?)del	FIRRM, GORAB +6 more	Deletion	not provided	GPathogenic
Select item 1399028	NM_152281.3(GORAB):c.411del (p.Val138fs)	GORAB (V138fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1360242	NM_152281.3(GORAB):c.79C>T (p.Arg27Ter)	GORAB (R27*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1355774	NM_152281.3(GORAB):c.276del (p.Ser93fs)	GORAB (S93fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 632088	NM_152281.3(GORAB):c.118C>T (p.Arg40Ter)	GORAB (R65* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632087	NM_152281.3(GORAB):c.-48dup	GORAB, GORAB-AS1	Duplication (5 prime UTR variant +1 more)	Geroderma osteodysplastica +2 more	GConflicting classifications of pathogenicity
Select item 225381	NM_152281.3(GORAB):c.408_409del (p.Lys137fs)	GORAB (K137fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 218115	NM_152281.3(GORAB):c.658G>C (p.Ala220Pro)	GORAB (A245P +1 more)	Single nucleotide variant (missense variant +1 more)	Geroderma osteodysplastica	GPathogenic
Select item 2650	NM_152281.3(GORAB):c.367G>T (p.Glu123Ter)	GORAB	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from PubMed

Items: 34