ClinVar for MedGen (Select 730669) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382798	NM_001844.5(COL2A1):c.3040G>A (p.Gly1014Arg)	COL2A1 (G1014R +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +14 more	GPathogenic
Select item 3382404	NM_001844.5(COL2A1):c.3679_3680insAA (p.Gly1227fs)	COL2A1 (G1158fs +1 more)	Insertion (frameshift variant)	Multiple epiphyseal dysplasia, Beighton type +14 more	GLikely pathogenic
Select item 3382294	NM_001844.5(COL2A1):c.3293G>A (p.Gly1098Glu)	COL2A1 (G1029E +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +14 more	GLikely pathogenic
Select item 3382056	NM_001844.5(COL2A1):c.2771G>A (p.Gly924Glu)	COL2A1 (G855E +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +14 more	GLikely pathogenic
Select item 2131579	NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)	COL2A1 (G642S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +15 more	GPathogenic/Likely pathogenic
Select item 1675238	NM_001844.5(COL2A1):c.3111+5G>A	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +16 more	GUncertain significance
Select item 1619302	NM_001844.5(COL2A1):c.2734-18C>T	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +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)	not provided +17 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 1378135	NM_001844.5(COL2A1):c.725G>A (p.Arg242His)	COL2A1 (R242H +1 more)	Single nucleotide variant (missense variant)	not provided +15 more	GUncertain significance
Select item 1224342	NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	COL2A1 (G1041S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with metatarsal shortening +16 more	GPathogenic
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)	Achondrogenesis type II +16 more	GLikely benign
Select item 1110328	NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +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)	Multiple epiphyseal dysplasia, Beighton type +16 more	GUncertain significance
Select item 1011511	NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)	COL2A1 (V914I +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +15 more	GConflicting classifications of pathogenicity
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 972258	NM_001844.5(COL2A1):c.1148G>A (p.Arg383His)	COL2A1 (R383H +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +15 more	GUncertain significance
Select item 938269	NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)	COL2A1 (E619K +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 734396	NM_001844.5(COL2A1):c.312A>G (p.Gly104=)	COL2A1	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia, Beighton type +16 more	GLikely benign
Select item 547841	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	COL2A1 (G873V +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +15 more	GUncertain significance
Select item 516324	NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +19 more	GBenign/Likely benign
Select item 516232	NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +18 more	GBenign/Likely benign
Select item 513411	NM_001844.5(COL2A1):c.870+11C>T	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +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)	Spondyloepimetaphyseal dysplasia, Strudwick type +18 more	GPathogenic/Likely pathogenic
Select item 308931	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	COL2A1 (P268L +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +15 more	GConflicting classifications of pathogenicity
Select item 308920	NM_001844.5(COL2A1):c.2095-4G>A	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +19 more	GBenign/Likely benign
Select item 288221	NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)	COL2A1 (V880M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 267809	46;XY;t(8;9)(q13;p22)dn		Translocation	Juvenile rheumatoid arthritis +4 more	GPathogenic
Select item 258220	NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	COL2A1 (T638I +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +19 more	GBenign/Likely benign
Select item 258211	NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +19 more	GBenign/Likely benign
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia, Beighton type +19 more	GBenign/Likely benign
Select item 195148	NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	COL2A1 (C86*)	Single nucleotide variant (nonsense +1 more)	not provided +14 more	GPathogenic
Select item 194828	NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu)	COL2A1 (G372E +1 more)	Single nucleotide variant (missense variant)	not provided +15 more	GConflicting classifications of pathogenicity
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +19 more	GBenign/Likely benign
Select item 39035	NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)	GNPTAB (C505Y)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +3 more	GPathogenic/Likely pathogenic
Select item 17395	NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	COL2A1 (R584* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +16 more	GPathogenic
Select item 17393	NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)	COL2A1 (G1170S +1 more)	Single nucleotide variant (missense variant)	Avascular necrosis of femoral head, primary, 1 +1 more	GPathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +14 more	GPathogenic/Likely pathogenic

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Items: 41