ClinVar for MedGen (Select 98034) - ClinVar

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

Links from MedGen

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671784	NM_032208.3(ANTXR1):c.568del (p.Arg190fs)	ANTXR1 (R190fs)	Deletion (frameshift variant)	GAPO syndrome	GLikely pathogenic
Select item 2664849	NM_032208.3(ANTXR1):c.1434+1G>A	ANTXR1	Single nucleotide variant (splice donor variant)	GAPO syndrome	GLikely pathogenic
Select item 1693166	NM_032208.3(ANTXR1):c.379-32T>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome	GBenign
Select item 1294584	NM_032208.3(ANTXR1):c.153-42G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1287403	NM_032208.3(ANTXR1):c.413-65_413-63del	ANTXR1	Deletion (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1282785	NM_032208.3(ANTXR1):c.1434+45_1434+46insTCAC	ANTXR1	Insertion (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1280441	NM_032208.3(ANTXR1):c.413-61G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1271895	NM_032208.3(ANTXR1):c.873-76T>A	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1260762	NM_032208.3(ANTXR1):c.1434+49T>C	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1257916	NM_032208.3(ANTXR1):c.413-67G>C	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1241632	NM_032208.3(ANTXR1):c.802+46A>G	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1226791	NM_032208.3(ANTXR1):c.224+81A>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1224003	NM_032208.3(ANTXR1):c.642+99T>C	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1221510	NM_032208.3(ANTXR1):c.152+89G>C	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1192398	NM_032208.3(ANTXR1):c.703+78T>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1192397	NM_032208.3(ANTXR1):c.643-66G>A	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1192396	NM_032208.3(ANTXR1):c.379-69T>C	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1178681	NM_032208.3(ANTXR1):c.492+10G>A	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1032945	NM_032208.3(ANTXR1):c.1105G>A (p.Gly369Ser)	ANTXR1 (G369S)	Single nucleotide variant (missense variant)	GAPO syndrome	GUncertain significance
Select item 931360	NM_032208.3(ANTXR1):c.80G>T (p.Gly27Val)	ANTXR1 (G27V)	Single nucleotide variant (missense variant)	GAPO syndrome	GUncertain significance
Select item 262019	NM_032208.3(ANTXR1):c.1185+16C>A	ANTXR1	Single nucleotide variant (intron variant)	Capillary infantile hemangioma +3 more	GBenign
Select item 224853	NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser)	ANTXR1 (G384S)	Single nucleotide variant (missense variant)	GAPO syndrome	GLikely pathogenic
Select item 224852	NM_032208.3(ANTXR1):c.411A>G (p.Gln137=)	ANTXR1	Single nucleotide variant (synonymous variant)	GAPO syndrome	GLikely pathogenic
Select item 224851	NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs)	ANTXR1 (A408fs)	Duplication (frameshift variant)	GAPO syndrome	GLikely pathogenic
Select item 50908	NM_032208.3(ANTXR1):c.1435-12A>G	ANTXR1	Single nucleotide variant (intron variant)	ANTXR1-related disorder	GUncertain significance
Select item 50907	NM_032208.3(ANTXR1):c.262C>T (p.Arg88Ter)	ANTXR1 (R88*)	Single nucleotide variant (nonsense)	GAPO syndrome	GPathogenic
Select item 50906	NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter)	ANTXR1 (R169*)	Single nucleotide variant (nonsense)	GAPO syndrome	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 27