"GeneDx"[submitter] AND "RBP4"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 1263116	NM_006744.4(RBP4):c.569-81T>C	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247112	NM_006744.4(RBP4):c.568+92G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282263	NM_006744.4(RBP4):c.568+67C>T	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195426	NM_006744.4(RBP4):c.441T>G (p.Cys147Trp)	RBP4 (C145W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167102	NM_006744.4(RBP4):c.381A>G (p.Thr127=)	RBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1277035	NM_006744.4(RBP4):c.356-25G>C	RBP4	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 10 +2 more	GBenign
Select item 1261690	NM_006744.4(RBP4):c.355+212G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271968	NM_006744.4(RBP4):c.355+182C>G	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 931422	NM_006744.4(RBP4):c.355+123T>G	RBP4	Single nucleotide variant (intron variant)	Progressive retinal dystrophy due to retinol transport defect +1 more	GBenign
Select item 1231600	NM_006744.4(RBP4):c.355+91G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244524	NM_006744.4(RBP4):c.355+41G>C	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271228	NM_006744.4(RBP4):c.248+44T>C	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255058	NM_006744.4(RBP4):c.248+28C>G	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167198	NM_006744.4(RBP4):c.248+13C>T	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276173	NM_006744.4(RBP4):c.112-44G>C	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290608	NM_006744.4(RBP4):c.111+25G>A	RBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277896	NM_006744.4(RBP4):c.-18-44_-18-43insCC	RBP4	Insertion (intron variant)	not provided	GBenign
Select item 1260386	NM_006744.4(RBP4):c.-55T>G	RBP4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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Items: 20