Related gene-specific medical variations for Gene (Select 4921) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247972	NC_000001.10:g.(?_162740256)_(162757423_?)del	DDR2	Deletion	not provided	GPathogenic
Select item 3067931	NM_006182.4(DDR2):c.2516G>A (p.Arg839His)	DDR2 (R839H)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GLikely pathogenic
Select item 2440723	NM_006182.4(DDR2):c.512A>G (p.Asp171Gly)	DDR2 (D171G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440722	NM_006182.4(DDR2):c.310G>C (p.Gly104Arg)	DDR2 (G104R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342148	NM_006182.4(DDR2):c.2323G>T (p.Val775Phe)	DDR2 (V775F)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GLikely pathogenic
Select item 995629	NM_006182.4(DDR2):c.85A>C (p.Ile29Leu)	DDR2 (I29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994052	NM_006182.4(DDR2):c.1158C>A (p.Thr386=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 811873	NM_006182.4(DDR2):c.1355G>C (p.Ser452Thr)	DDR2 (S452T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376144	NM_006182.4(DDR2):c.2321G>T (p.Gly774Val)	DDR2 (G774V)	Single nucleotide variant (missense variant)	Squamous cell lung carcinoma	GLikely pathogenic
Select item 376143	NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe)	DDR2 (I638F)	Single nucleotide variant (missense variant)	Squamous cell lung carcinoma	GLikely pathogenic
Select item 376142	NM_006182.4(DDR2):c.757G>T (p.Gly253Cys)	DDR2 (G253C)	Single nucleotide variant (missense variant)	Squamous cell lung carcinoma	GLikely pathogenic
Select item 376141	NM_006182.4(DDR2):c.716T>G (p.Leu239Arg)	DDR2 (L239R)	Single nucleotide variant (missense variant)	Squamous cell lung carcinoma	GLikely pathogenic
Select item 375878	NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg)	DDR2 (S768R)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GPathogenic