"Eurofins Ntd Llc (ga)"[submitter] AND "COL5A2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197920	NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)	COL5A2 (I1279T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 136954	NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 136953	NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 136952	NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)	COL5A2 (T1230R)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 500834	NM_000393.5(COL5A2):c.3645_3662del (p.Glu1216_Gly1221del)	COL5A2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 155778	NM_000393.5(COL5A2):c.3471+8A>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GConflicting classifications of pathogenicity
Select item 197537	NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)	COL5A2 (R1070H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 498913	NM_000393.5(COL5A2):c.3202G>A (p.Gly1068Ser)	COL5A2 (G1068S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197452	NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +5 more	GBenign/Likely benign
Select item 136946	NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 196936	NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 501572	NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 196731	NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr)	COL5A2 (P701T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196161	NM_000393.5(COL5A2):c.1924-3T>A	COL5A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 195650	NM_000393.5(COL5A2):c.1455+6G>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 284659	NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp)	COL5A2 (G375D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 136935	NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)	COL5A2 (M361L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 377732	NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 496938	NM_000393.5(COL5A2):c.985A>G (p.Met329Val)	COL5A2 (M329V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 285912	NM_000393.5(COL5A2):c.961-3del	COL5A2	Deletion (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 289442	NM_000393.5(COL5A2):c.870T>C (p.Pro290=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136965	NM_000393.5(COL5A2):c.322+8T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity
Select item 136961	NM_000393.5(COL5A2):c.198T>C (p.Asn66=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 213090	NM_000393.5(COL5A2):c.75A>G (p.Lys25=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity

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Items: 24