Related gene-specific medical variations for Gene (Select 126382) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2918873	NM_003721.4(RFXANK):c.713-5C>A	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
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 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 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 2025263	NM_003721.4(RFXANK):c.759C>T (p.Asn253=)	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GLikely benign
Select item 1942869	NM_003721.4(RFXANK):c.713-7A>G	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1912700	NM_003721.4(RFXANK):c.762G>T (p.Leu254=)	RFXANK, NR2C2AP	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GLikely benign
Select item 1663382	NM_003721.4(RFXANK):c.741C>G (p.Leu247=)	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GLikely benign
Select item 1457595	NM_003721.4(RFXANK):c.713-20T>C	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1410850	NC_000019.9:g.(?_19312438)_(19312528_?)dup	NR2C2AP, RFXANK	Duplication	MHC class II deficiency	GUncertain significance
Select item 1109312	NM_003721.4(RFXANK):c.713-8C>G	RFXANK, NR2C2AP	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1021280	NM_003721.4(RFXANK):c.721G>T (p.Val241Leu)	NR2C2AP, RFXANK (V218L +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GUncertain significance
Select item 992972	NM_003721.4(RFXANK):c.713-1G>A	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GPathogenic/Likely pathogenic
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 846066	NM_003721.4(RFXANK):c.754A>G (p.Ser252Gly)	RFXANK, NR2C2AP (S277G +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GUncertain significance
Select item 757974	NM_003721.4(RFXANK):c.713-6T>C	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 722510	NM_003721.4(RFXANK):c.775C>T (p.Pro259Ser)	NR2C2AP, RFXANK (P237S +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GLikely benign
Select item 651963	NM_003721.4(RFXANK):c.766C>T (p.Pro256Ser)	RFXANK, NR2C2AP (P234S +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GUncertain significance
Select item 538589	NM_003721.4(RFXANK):c.726C>G (p.Ile242Met)	RFXANK, NR2C2AP (I242M +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GUncertain significance
Select item 328651	NM_003721.4(RFXANK):c.*12C>T	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GBenign
Select item 328650	NM_003721.4(RFXANK):c.*9T>C	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 328649	NM_003721.4(RFXANK):c.765G>A (p.Val255=)	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GConflicting classifications of pathogenicity
Select item 328648	NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu)	NR2C2AP, RFXANK (Q251E +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency +1 more	GBenign/Likely benign

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Items: 24