ClinVar for MedGen (Select 147134) - ClinVar

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

Links from MedGen

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672267	NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp)	COL2A1 (G516D +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GLikely pathogenic
Select item 2663851	NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser)	COL2A1 (G840S +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GLikely pathogenic
Select item 2663840	NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg)	COL2A1 (G282R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GLikely pathogenic
Select item 2663839	NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg)	COL2A1 (G345R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GLikely pathogenic
Select item 1679885	NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)	COL2A1 (R1064C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +1 more	GConflicting classifications of pathogenicity
Select item 1676793	NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)	COL2A1 (G456S +1 more)	Single nucleotide variant (missense variant)	Kniest dysplasia +5 more	GLikely pathogenic
Select item 1675238	NM_001844.5(COL2A1):c.3111+5G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +16 more	GUncertain significance
Select item 1619302	NM_001844.5(COL2A1):c.2734-18C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +16 more	GLikely benign
Select item 1524681	NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)	COL2A1 (R863Q +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +16 more	GConflicting classifications of pathogenicity
Select item 1455692	NM_001844.5(COL2A1):c.2858del (p.Pro953fs)	COL2A1 (P884fs +1 more)	Deletion (frameshift variant)	Achondrogenesis type II +16 more	GPathogenic
Select item 1386179	NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)	COL2A1 (R586H +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 1347701	NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp)	COL2A1 (G348D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1326897	NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg)	COL2A1 (G381R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GPathogenic
Select item 1326881	NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu)	COL2A1 (G1116E +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GPathogenic
Select item 1326876	NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg)	COL2A1 (G525R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +2 more	GPathogenic/Likely pathogenic
Select item 1320218	NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser)	COL2A1 (G654S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1224342	NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	COL2A1 (G1041S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1202957	NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)	COL2A1 (R491P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135907	NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 1125241	NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +16 more	GLikely benign
Select item 1110328	NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 1106196	NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +16 more	GLikely benign
Select item 1020209	NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)	COL2A1 (E1003K +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GUncertain significance
Select item 1003871	NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)	COL2A1 (A284T +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 938269	NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)	COL2A1 (E619K +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +16 more	GConflicting classifications of pathogenicity
Select item 801895	NM_212482.4(FN1):c.44A>T (p.Gln15Leu)	FN1, FN1-DT (Q15L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type +3 more	GBenign
Select item 734396	NM_001844.5(COL2A1):c.312A>G (p.Gly104=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 516324	NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +19 more	GBenign/Likely benign
Select item 516232	NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +18 more	GBenign/Likely benign
Select item 513411	NM_001844.5(COL2A1):c.870+11C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +17 more	GBenign/Likely benign
Select item 449001	NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	COL2A1 (A302V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +18 more	GPathogenic/Likely pathogenic
Select item 308920	NM_001844.5(COL2A1):c.2095-4G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +19 more	GBenign/Likely benign
Select item 258220	NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	COL2A1 (T638I +1 more)	Single nucleotide variant (missense variant)	not provided +19 more	GBenign/Likely benign
Select item 258211	NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +19 more	GBenign/Likely benign
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +19 more	GBenign/Likely benign
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +19 more	GBenign/Likely benign
Select item 17397	NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly)	COL2A1 (R923G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17378	NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val)	COL2A1 (G423V +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GPathogenic
Select item 17377	NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)	COL2A1 (G435C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17367	NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys)	COL2A1 (G840C +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GPathogenic
Select item 17363	NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)	COL2A1 (G285R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type	GPathogenic/Likely pathogenic
Select item 17361	NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	COL2A1 (G1128S +1 more)	Single nucleotide variant (missense variant)	Namaqualand hip dysplasia +7 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 42