ClinVar for MedGen (Select 377049) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	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 1048782	NM_001844.5(COL2A1):c.1023+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Kniest dysplasia	GPathogenic
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 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 547841	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	COL2A1 (G873V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +15 more	GUncertain significance
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)	Spondylometaphyseal dysplasia - Sutcliffe 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)	Achondrogenesis type II +15 more	GConflicting classifications of pathogenicity
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)	Connective tissue disorder +19 more	GBenign/Likely benign
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +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 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +19 more	GBenign/Likely benign
Select item 17395	NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	COL2A1 (R584* +1 more)	Single nucleotide variant (nonsense)	Stickler syndrome, type I, nonsyndromic ocular +15 more	GPathogenic
Select item 17379	NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)	COL2A1 (R835C +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GPathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +14 more	GPathogenic/Likely pathogenic

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Items: 29