ClinVar for Gene (Select 6257) - ClinVar

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

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	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 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 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 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 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 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 3050300	NM_021976.5(RXRB):c.1194C>T (p.Ala398=)	RXRB	Single nucleotide variant (synonymous variant)	RXRB-related disorder	GLikely benign
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 3042895	NM_021976.5(RXRB):c.624C>T (p.Cys208=)	RXRB	Single nucleotide variant (synonymous variant)	RXRB-related disorder	GBenign
Select item 3042026	NM_001291989.2(RXRB):c.16+9A>C	RXRB	Single nucleotide variant (intron variant)	RXRB-related disorder	GLikely benign
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 3034436	NM_021976.5(RXRB):c.641-6C>G	RXRB	Single nucleotide variant (intron variant)	RXRB-related disorder	GBenign
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 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 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 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 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 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 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	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 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 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 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 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 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1254260	NM_021976.5(RXRB):c.1152C>T (p.Phe384=)	RXRB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 779906	NM_021976.5(RXRB):c.1455-10_1455-5dup	RXRB	Duplication (intron variant)	not provided +1 more	GBenign
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 38