RXRB[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3315855	NM_021976.5(RXRB):c.1585C>T (p.Pro529Ser)	RXRB (P533S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779906	NM_021976.5(RXRB):c.1455-10_1455-5dup	RXRB	Duplication (intron variant)	not provided	GBenign
Select item 3041645	NM_021976.5(RXRB):c.1419C>G (p.Thr473=)	RXRB	Single nucleotide variant (synonymous variant)	RXRB-related disorder	GLikely benign
Select item 2356807	NM_021976.5(RXRB):c.1373G>A (p.Ser458Asn)	RXRB (S458N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157304	NM_021976.5(RXRB):c.1293G>A (p.Met431Ile)	RXRB (M431I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049286	NM_021976.5(RXRB):c.1206C>T (p.His402=)	RXRB	Single nucleotide variant (synonymous variant)	RXRB-related disorder	GLikely benign
Select item 3050300	NM_021976.5(RXRB):c.1194C>T (p.Ala398=)	RXRB	Single nucleotide variant (synonymous variant)	RXRB-related disorder	GLikely benign
Select item 1254260	NM_021976.5(RXRB):c.1152C>T (p.Phe384=)	RXRB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3315856	NM_021976.5(RXRB):c.973A>G (p.Thr325Ala)	RXRB (T325A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514900	NM_021976.5(RXRB):c.971G>A (p.Gly324Glu)	RXRB (G324E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522153	NM_021976.5(RXRB):c.955G>A (p.Val319Ile)	RXRB (V129I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295526	NM_021976.5(RXRB):c.874G>C (p.Ala292Pro)	RXRB (A292P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034436	NM_021976.5(RXRB):c.641-6C>G	RXRB	Single nucleotide variant (intron variant)	RXRB-related disorder	GBenign
Select item 3042895	NM_021976.5(RXRB):c.624C>T (p.Cys208=)	RXRB	Single nucleotide variant (synonymous variant)	RXRB-related disorder	GBenign
Select item 2265161	NM_021976.5(RXRB):c.562G>A (p.Gly188Ser)	RXRB (G188S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373624	NM_021976.5(RXRB):c.473G>A (p.Ser158Asn)	RXRB (S158N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598639	NM_021976.5(RXRB):c.425C>T (p.Ser142Phe)	RXRB (S142F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554623	NM_021976.5(RXRB):c.382C>G (p.Pro128Ala)	RXRB (P128A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482120	NM_021976.5(RXRB):c.382C>A (p.Pro128Thr)	RXRB (P128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157308	NM_021976.5(RXRB):c.367C>A (p.Pro123Thr)	RXRB (P123T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061577	NM_021976.5(RXRB):c.310C>T (p.Pro104Ser)	RXRB (P104S)	Single nucleotide variant (missense variant +1 more)	RXRB-related disorder	GLikely benign
Select item 2531770	NM_021976.5(RXRB):c.307C>T (p.Pro103Ser)	RXRB (P103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157307	NM_021976.5(RXRB):c.262C>T (p.Pro88Ser)	RXRB (P88S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157306	NM_021976.5(RXRB):c.196G>C (p.Gly66Arg)	RXRB (G66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545533	NM_021976.5(RXRB):c.190G>C (p.Glu64Gln)	RXRB (E64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157305	NM_021976.5(RXRB):c.155C>G (p.Ala52Gly)	RXRB (A52G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157309	NM_021976.5(RXRB):c.53A>G (p.Gln18Arg)	RXRB (Q18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341391	NM_021976.5(RXRB):c.26T>C (p.Phe9Ser)	RXRB (F9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042026	NM_001291989.2(RXRB):c.16+9A>C	RXRB	Single nucleotide variant (intron variant)	RXRB-related disorder	GLikely benign
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 40