DDR2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 371

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 1275556	NM_006182.4(DDR2):c.-27-206A>G	DDR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199758	NM_006182.4(DDR2):c.-27-193T>C	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219420	NM_006182.4(DDR2):c.-27-146G>A	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191204	NM_006182.4(DDR2):c.-27-18A>G	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293371	NM_006182.4(DDR2):c.-27-11G>C	DDR2	Single nucleotide variant (intron variant)	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 2144365	NM_006182.4(DDR2):c.28G>A (p.Val10Met)	DDR2 (V10M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850995	NM_006182.4(DDR2):c.57T>C (p.Ser19=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1024122	NM_006182.4(DDR2):c.79C>T (p.Pro27Ser)	DDR2 (P27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938214	NM_006182.4(DDR2):c.82+9G>A	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197105	NM_006182.4(DDR2):c.83-235C>T	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202066	NM_006182.4(DDR2):c.83-129A>G	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259936	NM_006182.4(DDR2):c.83-39C>G	DDR2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1635610	NM_006182.4(DDR2):c.83-17G>C	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014599	NM_006182.4(DDR2):c.83-15T>A	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729660	NM_006182.4(DDR2):c.83-4C>T	DDR2	Single nucleotide variant (intron variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 2496217	NM_006182.4(DDR2):c.85A>G (p.Ile29Val)	DDR2 (I29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1046171	NM_006182.4(DDR2):c.91C>T (p.Arg31Cys)	DDR2 (R31C)	Single nucleotide variant (missense variant)	not provided	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 2053435	NM_006182.4(DDR2):c.103G>A (p.Gly35Ser)	DDR2 (G35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507954	NM_006182.4(DDR2):c.109T>A (p.Ser37Thr)	DDR2 (S37T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453437	NM_006182.4(DDR2):c.111del (p.Gly38fs)	DDR2 (G38fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1500844	NM_006182.4(DDR2):c.120G>T (p.Gln40His)	DDR2 (Q40H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627153	NM_006182.4(DDR2):c.159A>G (p.Ser53=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652840	NM_006182.4(DDR2):c.185+19A>G	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248051	NM_006182.4(DDR2):c.185+175T>C	DDR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213496	NM_006182.4(DDR2):c.186-269T>G	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185908	NM_006182.4(DDR2):c.186-98C>T	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 751694	NM_006182.4(DDR2):c.186-9C>T	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 376140	NM_006182.4(DDR2):c.187C>G (p.Leu63Val)	DDR2 (L63V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 799129	NM_006182.4(DDR2):c.189G>C (p.Leu63=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233040	NM_006182.4(DDR2):c.190G>T (p.Asp64Tyr)	DDR2 (D64Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245313	NM_006182.4(DDR2):c.192C>A (p.Asp64Glu)	DDR2 (D64E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1102475	NM_006182.4(DDR2):c.219C>T (p.Cys73=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733146	NM_006182.4(DDR2):c.243T>C (p.Asp81=)	DDR2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +1 more	GConflicting classifications of pathogenicity
Select item 727108	NM_006182.4(DDR2):c.243T>A (p.Asp81Glu)	DDR2 (D81E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2006429	NM_006182.4(DDR2):c.247C>G (p.Leu83Val)	DDR2 (L83V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2234232	NM_006182.4(DDR2):c.274C>T (p.His92Tyr)	DDR2 (H92Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016775	NM_006182.4(DDR2):c.298G>T (p.Val100Leu)	DDR2 (V100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757337	NM_006182.4(DDR2):c.306C>A (p.Thr102=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2050606	NM_006182.4(DDR2):c.336C>T (p.Ile112=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 60759	NM_006182.4(DDR2):c.337G>A (p.Glu113Lys)	DDR2 (E113K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 818027	NM_006182.4(DDR2):c.348dup (p.Met117fs)	DDR2 (M117fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 286980	NM_006182.4(DDR2):c.357G>A (p.Lys119=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1361436	NM_006182.4(DDR2):c.380C>T (p.Thr127Ile)	DDR2 (T127I)	Single nucleotide variant (missense variant)	not provided	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 1436133	NM_006182.4(DDR2):c.397C>T (p.Arg133Trp)	DDR2 (R133W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963165	NM_006182.4(DDR2):c.398G>A (p.Arg133Gln)	DDR2 (R133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3021925	NM_006182.4(DDR2):c.417G>A (p.Gln139=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2703347	NM_006182.4(DDR2):c.417+1G>T	DDR2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1563001	NM_006182.4(DDR2):c.417+13_417+14del	DDR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2955224	NM_006182.4(DDR2):c.417+13G>C	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537155	NM_006182.4(DDR2):c.417+14A>C	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198309	NM_006182.4(DDR2):c.417+147G>T	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1702396	NM_006182.4(DDR2):c.418G>T (p.Val140Leu)	DDR2 (V140L)	Single nucleotide variant (missense variant)	Connective tissue disorder	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 1374506	NM_006182.4(DDR2):c.428G>A (p.Gly143Glu)	DDR2 (G143E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305596	NM_006182.4(DDR2):c.431A>G (p.Asn144Ser)	DDR2 (N144S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 281651	NM_006182.4(DDR2):c.437A>G (p.Asn146Ser)	DDR2 (N146S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371305	NM_006182.4(DDR2):c.440C>T (p.Pro147Leu)	DDR2 (P147L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566748	NM_006182.4(DDR2):c.444T>C (p.Tyr148=)	DDR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 760593	NM_006182.4(DDR2):c.447C>T (p.Asp149=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1053637	NM_006182.4(DDR2):c.459G>T (p.Lys153Asn)	DDR2 (K153N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419271	NM_006182.4(DDR2):c.470C>T (p.Pro157Leu)	DDR2 (P157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731687	NM_006182.4(DDR2):c.471G>A (p.Pro157=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2708052	NM_006182.4(DDR2):c.507C>T (p.Val169=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 259934	NM_006182.4(DDR2):c.510C>T (p.Thr170=)	DDR2	Single nucleotide variant (synonymous variant)	DDR2-related disorder +2 more	GConflicting classifications of pathogenicity
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 1448021	NM_006182.4(DDR2):c.518C>G (p.Ser173Cys)	DDR2 (S173C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1077453	NM_006182.4(DDR2):c.540G>T (p.Val180=)	DDR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2705160	NM_006182.4(DDR2):c.565+1G>A	DDR2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2028464	NM_006182.4(DDR2):c.578C>A (p.Ser193Tyr)	DDR2 (S193Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984543	NM_006182.4(DDR2):c.671+20A>T	DDR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261245	NM_006182.4(DDR2):c.671+96A>C	DDR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707084	NM_006182.4(DDR2):c.672-118C>T	DDR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1950215	NM_006182.4(DDR2):c.677C>G (p.Thr226Arg)	DDR2 (T226R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736527	NM_006182.4(DDR2):c.681del (p.Gly228_Leu229insTer)	DDR2	Deletion (frameshift variant)	not provided	GPathogenic

<< First< Prev

Page of 4