ClinVar for MedGen (Select 338595) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1704552	NM_006182.4(DDR2):c.1421T>C (p.Ile474Thr)	DDR2 (I474T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1397822	NM_006182.4(DDR2):c.2162A>G (p.Asn721Ser)	DDR2 (N721S)	Single nucleotide variant (missense variant)	not provided +2 more	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 1333710	NM_006182.4(DDR2):c.215G>T (p.Trp72Leu)	DDR2 (W72L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 1333307	NM_006182.4(DDR2):c.313C>A (p.Arg105Ser)	DDR2 (R105S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 1042896	NM_006182.4(DDR2):c.2255G>A (p.Arg752His)	DDR2 (R752H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033076	NM_006182.4(DDR2):c.494G>A (p.Arg165Gln)	DDR2 (R165Q)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 1031024	NM_006182.4(DDR2):c.833T>A (p.Ile278Asn)	DDR2 (I278N)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 915984	GRCh37/hg19 1q23.3(chr1:162748370-162748520)	DDR2	Copy number loss	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GPathogenic
Select item 876650	NM_006182.4(DDR2):c.2003G>A (p.Arg668His)	DDR2 (R668H)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 876649	NM_006182.4(DDR2):c.1504+11T>C	DDR2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +1 more	GBenign/Likely benign
Select item 876599	NM_006182.4(DDR2):c.-106G>T	DDR2	Single nucleotide variant (5 prime UTR variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 876598	NM_006182.4(DDR2):c.-221C>T	DDR2	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 876597	NM_006182.4(DDR2):c.-247G>A	DDR2	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 875651	NM_006182.4(DDR2):c.1389T>C (p.Ser463=)	DDR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875650	NM_006182.4(DDR2):c.1099+12A>C	DDR2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875649	NM_006182.4(DDR2):c.978C>T (p.Asp326=)	DDR2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +1 more	GConflicting classifications of pathogenicity
Select item 875603	NM_006182.4(DDR2):c.-258G>A	DDR2	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 875602	NM_006182.4(DDR2):c.-318C>T	DDR2	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 874712	NM_006182.4(DDR2):c.919C>T (p.Arg307Cys)	DDR2 (R307C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +1 more	GUncertain significance
Select item 874711	NM_006182.4(DDR2):c.672-9C>A	DDR2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +1 more	GConflicting classifications of pathogenicity
Select item 874710	NM_006182.4(DDR2):c.549C>T (p.Tyr183=)	DDR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874709	NM_006182.4(DDR2):c.520A>G (p.Met174Val)	DDR2 (M174V)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 873808	NM_006182.4(DDR2):c.*152C>A	DDR2	Single nucleotide variant (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 873807	NM_006182.4(DDR2):c.*48A>G	DDR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 873806	NM_006182.4(DDR2):c.*16G>A	DDR2	Single nucleotide variant (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 873805	NM_006182.4(DDR2):c.2504A>G (p.Asp835Gly)	DDR2 (D835G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 873757	NM_006182.4(DDR2):c.421C>T (p.Leu141=)	DDR2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 873756	NM_006182.4(DDR2):c.418-12C>T	DDR2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 873755	NM_006182.4(DDR2):c.100C>A (p.Leu34Met)	DDR2 (L34M)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 811602	NM_006182.4(DDR2):c.1323G>A (p.Met441Ile)	DDR2 (M441I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 733146	NM_006182.4(DDR2):c.243T>C (p.Asp81=)	DDR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 729660	NM_006182.4(DDR2):c.83-4C>T	DDR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 719940	NM_006182.4(DDR2):c.2031C>T (p.Ser677=)	DDR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631572	NM_006182.4(DDR2):c.1831C>T (p.Arg611Ter)	DDR2 (R611*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631571	NM_006182.4(DDR2):c.691C>T (p.Gln231Ter)	DDR2 (Q231*)	Single nucleotide variant (nonsense)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 631570	NM_006182.4(DDR2):c.2T>G (p.Met1Arg)	DDR2 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 587431	NM_006182.4(DDR2):c.508A>T (p.Thr170Ser)	DDR2 (T170S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +1 more	GConflicting classifications of pathogenicity
Select item 587430	NM_006182.4(DDR2):c.2387A>T (p.Gln796Leu)	DDR2 (Q796L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 501659	NM_006182.4(DDR2):c.1509C>T (p.Cys503=)	DDR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 293385	NM_006182.4(DDR2):c.*77C>G	DDR2	Single nucleotide variant (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 293384	NM_006182.4(DDR2):c.*42C>A	DDR2	Single nucleotide variant (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 293383	NM_006182.4(DDR2):c.2397G>C (p.Glu799Asp)	DDR2 (E799D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 293382	NM_006182.4(DDR2):c.2253C>T (p.Ile751=)	DDR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293381	NM_006182.4(DDR2):c.2237G>A (p.Arg746Gln)	DDR2 (R746Q)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 293380	NM_006182.4(DDR2):c.2068A>G (p.Met690Val)	DDR2 (M690V)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +2 more	GConflicting classifications of pathogenicity
Select item 293379	NM_006182.4(DDR2):c.1508G>C (p.Cys503Ser)	DDR2 (C503S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 293378	NM_006182.4(DDR2):c.1142C>G (p.Pro381Arg)	DDR2 (P381R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 293377	NM_006182.4(DDR2):c.1005G>C (p.Thr335=)	DDR2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 293376	NM_006182.4(DDR2):c.932G>A (p.Ser311Asn)	DDR2 (S311N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 293375	NM_006182.4(DDR2):c.778C>T (p.Arg260Trp)	DDR2 (R260W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 293374	NM_006182.4(DDR2):c.716T>C (p.Leu239Pro)	DDR2 (L239P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 293373	NM_006182.4(DDR2):c.476T>C (p.Ile159Thr)	DDR2 (I159T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 293372	NM_006182.4(DDR2):c.383G>A (p.Arg128His)	DDR2 (R128H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 293371	NM_006182.4(DDR2):c.-27-11G>C	DDR2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +1 more	GUncertain significance
Select item 293370	NM_006182.4(DDR2):c.-219T>C	DDR2	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GUncertain significance
Select item 259936	NM_006182.4(DDR2):c.83-39C>G	DDR2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 259935	NM_006182.4(DDR2):c.699C>T (p.Thr233=)	DDR2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +3 more	GConflicting classifications of pathogenicity
Select item 259934	NM_006182.4(DDR2):c.510C>T (p.Thr170=)	DDR2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +2 more	GConflicting classifications of pathogenicity
Select item 259933	NM_006182.4(DDR2):c.2481G>T (p.Leu827=)	DDR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 259932	NM_006182.4(DDR2):c.1856+32G>T	DDR2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +3 more	GBenign
Select item 259930	NM_006182.4(DDR2):c.1504+25T>C	DDR2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +3 more	GBenign
Select item 259929	NM_006182.4(DDR2):c.1260C>G (p.Leu420=)	DDR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 198839	NM_006182.4(DDR2):c.720C>T (p.Asp240=)	DDR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197782	NM_006182.4(DDR2):c.408T>C (p.His136=)	DDR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 60759	NM_006182.4(DDR2):c.337G>A (p.Glu113Lys)	DDR2 (E113K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12316	NM_006182.4(DDR2):c.2283+1G>A	DDR2	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GPathogenic
Select item 12315	NM_006182.4(DDR2):c.2138C>T (p.Thr713Ile)	DDR2 (T713I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GPathogenic
Select item 12314	NM_006182.4(DDR2):c.2177T>G (p.Ile726Arg)	DDR2 (I726R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GPathogenic
Select item 12313	NM_006182.4(DDR2):c.2254C>T (p.Arg752Cys)	DDR2 (R752C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	GPathogenic

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Items: 71