Related gene-specific medical variations for Gene (Select 168667) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245935	NC_000007.13:g.(?_34006071)_(34014416_?)dup	BMPER	Duplication	not provided	GLikely pathogenic
Select item 3245933	NC_000007.13:g.(?_33945226)_(33977020_?)dup	BMPER	Duplication	not provided	GUncertain significance
Select item 3245932	NC_000007.13:g.(?_34009921)_(34010051_?)del	BMPER	Deletion	not provided	GPathogenic
Select item 2688674	NM_001365308.1(BMPER):c.832T>G (p.Cys278Gly)	BMPER (C278G)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 2688673	NM_001365308.1(BMPER):c.927+6T>A	BMPER	Single nucleotide variant (intron variant)	Diaphanospondylodysostosis	GUncertain significance
Select item 2437599	NM_001365308.1(BMPER):c.721C>T (p.Arg241Ter)	BMPER (R241*)	Single nucleotide variant (nonsense)	Diaphanospondylodysostosis	GLikely pathogenic
Select item 1527349	GRCh37/hg19 7p14.3(chr7:34089097-34113817)	BMPER	Copy number loss	not specified	GUncertain significance
Select item 987346	NM_001365308.1(BMPER):c.1577G>A (p.Trp526Ter)	BMPER (W526*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 814954	GRCh37/hg19 7p14.3(chr7:33868997-34247759)x1	BMPER	Copy number loss	not provided	GUncertain significance
Select item 814953	GRCh37/hg19 7p14.3(chr7:33667313-34047534)x4	BMPER	Copy number gain	not provided	GUncertain significance
Select item 686417	GRCh37/hg19 7p14.3(chr7:33914258-34015196)x4	BMPER	Copy number gain	not provided	GUncertain significance