"Ambry Genetics"[submitter] AND "NR2C2AP"[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2333719	NM_003721.4(RFXANK):c.739C>T (p.Leu247Phe)	NR2C2AP, RFXANK (L225F +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2085639	NM_003721.4(RFXANK):c.745C>G (p.Leu249Val)	NR2C2AP, RFXANK (L227V +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2252321	NM_003721.4(RFXANK):c.769G>T (p.Ala257Ser)	NR2C2AP, RFXANK (A234S +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3153531	NM_003721.4(RFXANK):c.774C>G (p.Asp258Glu)	NR2C2AP, RFXANK (D236E +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 857372	NM_003721.4(RFXANK):c.778G>A (p.Glu260Lys)	NR2C2AP, RFXANK (E237K +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 2547518	NM_176880.6(NR2C2AP):c.299T>A (p.Leu100His)	NR2C2AP (L100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478277	NM_176880.6(NR2C2AP):c.292A>T (p.Asn98Tyr)	NR2C2AP (N98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201919	NM_176880.6(NR2C2AP):c.220C>T (p.Arg74Trp)	NR2C2AP (R74W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231908	NM_176880.6(NR2C2AP):c.126C>G (p.Asp42Glu)	NR2C2AP (D42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206231	NM_176880.6(NR2C2AP):c.35G>A (p.Ser12Asn)	NR2C2AP (S12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540428	NM_176880.6(NR2C2AP):c.29C>T (p.Thr10Ile)	NR2C2AP (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309482	NM_176880.6(NR2C2AP):c.22C>T (p.Pro8Ser)	NR2C2AP (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance