"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297542	NM_001844.5(COL2A1):c.4075-1G>C	COL2A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 308908	NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)	COL2A1 (G1246S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 508511	NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 511979	NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 283607	NM_001844.5(COL2A1):c.3003+9G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 17379	NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)	COL2A1 (R835C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 252593	NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +4 more	GConflicting classifications of pathogenicity
Select item 1299978	NM_001844.5(COL2A1):c.2453G>C (p.Arg818Pro)	COL2A1 (R749P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93787	NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1284720	NM_001844.5(COL2A1):c.2356-4G>A	COL2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related condition +20 more	GBenign/Likely benign
Select item 1206264	NM_001844.5(COL2A1):c.2302-3C>T	COL2A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 258225	NM_001844.5(COL2A1):c.2295C>T (p.Gly765=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 284988	NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)	COL2A1 (N545S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426404	NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)	COL2A1 (R533* +1 more)	Single nucleotide variant (nonsense)	Connective tissue disorder +2 more	GPathogenic
Select item 1297653	NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter)	COL2A1 (Q410* +1 more)	Single nucleotide variant (nonsense)	COL2A1-related condition	GLikely pathogenic
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	Connective tissue disorder +19 more	GBenign/Likely benign
Select item 258206	NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 258244	NM_001844.5(COL2A1):c.762+15G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258243	NM_001844.5(COL2A1):c.654+15T>G	COL2A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 195149	NM_001844.5(COL2A1):c.213C>T (p.Asp71=)	COL2A1	Single nucleotide variant (synonymous variant +1 more)	Stickler syndrome type 1 +4 more	GBenign/Likely benign
Select item 93791	NM_001844.5(COL2A1):c.85+18C>G	COL2A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 93788	NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)	COL2A1 (T9S)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +3 more	GBenign

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Items: 24