NR2C2AP[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 1457595	NM_176880.6(NR2C2AP):c.*296A>G	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1109312	NM_176880.6(NR2C2AP):c.*284G>C	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1942869	NM_176880.6(NR2C2AP):c.*283T>C	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 757974	NM_176880.6(NR2C2AP):c.*282A>G	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2918873	NM_176880.6(NR2C2AP):c.*281G>T	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
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 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 538589	NM_003721.4(RFXANK):c.726C>G (p.Ile242Met)	NR2C2AP, RFXANK (I242M +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GUncertain significance
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 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 2085639	NM_003721.4(RFXANK):c.745C>G (p.Leu249Val)	RFXANK, NR2C2AP (L227V +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 328648	NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu)	RFXANK, NR2C2AP (Q251E +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	GBenign/Likely benign
Select item 846066	NM_003721.4(RFXANK):c.754A>G (p.Ser252Gly)	NR2C2AP, RFXANK (S277G +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	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 1912700	NM_003721.4(RFXANK):c.762G>T (p.Leu254=)	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +2 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 651963	NM_003721.4(RFXANK):c.766C>T (p.Pro256Ser)	NR2C2AP, RFXANK (P234S +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MHC class II deficiency	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 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 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 328650	NM_176880.6(NR2C2AP):c.*197A>G	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	RFXANK-related disorder +1 more	GBenign/Likely benign
Select item 328651	NM_176880.6(NR2C2AP):c.*194G>A	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GBenign
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
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	LSM4, MAST3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1410850	NC_000019.9:g.(?_19312438)_(19312528_?)dup	NR2C2AP, RFXANK	Duplication	MHC class II deficiency	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688890	GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3	BORCS8, HAPLN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44