Related gene-specific medical variations for Gene (Select 7026) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361736	NM_021005.4(NR2F2):c.1087C>T (p.Leu363Phe)	NR2F2 (L210F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361735	NM_021005.4(NR2F2):c.1121C>T (p.Ser374Phe)	NR2F2 (S221F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359688	NM_021005.4(NR2F2):c.302G>T (p.Ser101Ile)	NR2F2 (S101I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3347446	NM_001145155.2(NR2F2):c.37G>A (p.Gly13Ser)	NR2F2, NR2F2-AS1 (G13S)	Single nucleotide variant (missense variant)	NR2F2-related disorder	GUncertain significance
Select item 3062322	NM_021005.4(NR2F2):c.684del (p.Asn229fs)	NR2F2 (N229fs +2 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 3062234	NM_021005.4(NR2F2):c.1164dup (p.Lys389Ter)	NR2F2 (K236* +2 more)	Duplication (nonsense)	46,xx sex reversal 5	GLikely pathogenic
Select item 3062062	NM_021005.4(NR2F2):c.576del (p.Thr193fs)	NR2F2 (T193fs +2 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 2570648	NM_021005.4(NR2F2):c.23G>A (p.Trp8Ter)	NR2F2 (W8*)	Single nucleotide variant (nonsense +1 more)	NR2F2 associated disorders	GLikely pathogenic
Select item 2570647	NM_021005.4(NR2F2):c.1133_1134dup (p.Glu379Ter)	NR2F2 (E226* +2 more)	Duplication (nonsense)	NR2F2 associated disorders	GLikely pathogenic
Select item 2570646	NM_021005.4(NR2F2):c.275G>T (p.Gly92Val)	NR2F2 (G92V)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 2570645	NM_021005.4(NR2F2):c.382C>T (p.Arg128Cys)	NR2F2 (R128C)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 2570644	NM_021005.4(NR2F2):c.313C>A (p.Arg105Ser)	NR2F2 (R105S)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 2570643	NM_021005.4(NR2F2):c.287G>A (p.Cys96Tyr)	NR2F2 (C96Y)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 2570642	NM_021005.4(NR2F2):c.933G>C (p.Glu311Asp)	NR2F2 (E178D +2 more)	Single nucleotide variant (missense variant)	NR2F2 associated disorders	GUncertain significance
Select item 2442212	NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)	NR2F2 (L212H +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1291706	NM_001145155.2(NR2F2):c.43+114G>T	NR2F2, NR2F2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 548125	GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1	NR2F2	Copy number loss	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 446325	GRCh37/hg19 15q26.2(chr15:96873984-96877760)x3	NR2F2	Copy number gain	See cases	GUncertain significance
Select item 426710	NM_021005.3(NR2F2):c.-5753G>A	NR2F2, NR2F2-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance