C0029434[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13683	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL (A176T +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 839130	NM_000089.4(COL1A2):c.368C>A (p.Pro123His)	COL1A2 (P123H)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +2 more	GUncertain significance
Select item 547238	NM_000089.4(COL1A2):c.1036-3T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 843049	NM_000089.4(COL1A2):c.2645G>A (p.Arg882His)	COL1A2 (R882H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 35920	NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	COL1A1 (R1026*)	Single nucleotide variant (nonsense)	Abnormality of the skeletal system +10 more	GPathogenic
Select item 526861	NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln)	COL1A1 (E1021Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 456753	NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)	COL1A1 (R882*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 972993	NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)	COL1A1 (P129S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar