"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983469	NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu)	ROR2 (F739L)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983468	NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln)	ROR2 (R736Q)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983467	NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr)	ROR2 (P692T)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 159813	NM_004560.4(ROR2):c.1970G>A (p.Arg657His)	ROR2 (R657H)	Single nucleotide variant (missense variant)	Brachydactyly, type B1Robinow syndrome, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 983466	NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser)	ROR2 (R619S)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983465	NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe)	ROR2 (I506F)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 7318	NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)	ROR2 (R442*)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic
Select item 983455	NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)	ROR2 (R397*)	Single nucleotide variant (synonymous variant +1 more)	Brachydactyly type B1 +1 more	GPathogenic
Select item 983454	NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile)	ROR2 (N367I)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983464	NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)	ROR2 (R366W)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +1 more	GLikely pathogenic
Select item 984982	NM_004560.4(ROR2):c.990del (p.Thr331fs)	ROR2 (T331fs)	Deletion (frameshift variant)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 212059	NM_004560.4(ROR2):c.904C>T (p.Arg302Cys)	ROR2 (R302C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 983463	NM_004560.4(ROR2):c.899G>T (p.Cys300Phe)	ROR2 (C300F)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983462	NM_004560.4(ROR2):c.717C>A (p.Cys239Ter)	ROR2 (C239*)	Single nucleotide variant (nonsense)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983461	NM_004560.4(ROR2):c.675del (p.Gln225fs)	ROR2 (Q225fs)	Deletion (frameshift variant)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 983460	NM_004560.4(ROR2):c.623-11G>A	ROR2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7310	NM_004560.4(ROR2):c.613C>T (p.Arg205Ter)	ROR2 (R205*)	Single nucleotide variant (nonsense)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 983453	NM_004560.4(ROR2):c.494+4_494+7del	ROR2	Microsatellite (splice donor variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 7314	NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)	ROR2 (R119*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 627539	NM_004560.4(ROR2):c.323G>A (p.Arg108Gln)	ROR2 (R108Q)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983458	NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr)	ROR2 (C83Y)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983457	NM_004560.4(ROR2):c.79_80del (p.Ser29fs)	ROR2 (S29fs)	Microsatellite (frameshift variant)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 983452	NM_004560.4(ROR2):c.2T>G (p.Met1Arg)	ROR2 (M1R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 983459	GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1	ROR2	Copy number loss	Autosomal recessive Robinow syndrome	GLikely pathogenic
Select item 983456	GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1	ROR2, SPTLC1	Copy number loss	Autosomal recessive Robinow syndrome	GLikely pathogenic

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Items: 25