ClinVar for MedGen (Select 98034) - ClinVar

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Items: 28

	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 2241375	NM_032208.3(ANTXR1):c.561+6G>A	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GConflicting classifications of pathogenicity
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)	GAPO syndrome +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)	GAPO syndrome +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)	GAPO syndrome +1 more	GBenign
Select item 1241632	NM_032208.3(ANTXR1):c.802+46A>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +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)	GAPO syndrome +1 more	GBenign
Select item 1221510	NM_032208.3(ANTXR1):c.152+89G>C	ANTXR1	Single nucleotide variant (intron variant)	not provided +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)	not provided +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)	GAPO syndrome +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

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Items: 28