C3810363[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279855	NM_005654.6(NR2F1):c.2T>C (p.Met1Thr)	NR2F1, NR2F1-AS1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1048565	NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter)	NR2F1, NR2F1-AS1	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1048563	NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu)	NR2F1, NR2F1-AS1	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 126496	NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys)	NR2F1-AS1, NR2F1 (R112K)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 126494	NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg)	NR2F1, NR2F1-AS1 (S113R)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic/Likely pathogenic
Select item 126493	NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)	NR2F1, NR2F1-AS1 (R115P)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic/Likely pathogenic
Select item 1048564	NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter)	NR2F1	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 126495	NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)	NR2F1 (L252P)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 1048566	NM_005654.6(NR2F1):c.1083del (p.Asn362fs)	NR2F1 (N362fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic