ClinVar (all) for Orgtrack (Select 506988) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684756	NM_001854.4(COL11A1):c.3619G>A (p.Gly1207Ser)	COL11A1 (G1091S +3 more)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684755	NM_000393.5(COL5A2):c.4174C>A (p.Leu1392Ile)	COL5A2 (L1392I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684754	NM_003052.5(SLC34A1):c.156_175delinsA (p.Gly53fs)	SLC34A1 (G53fs)	Indel (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684753	NM_006129.5(BMP1):c.1215C>G (p.Ile405Met)	BMP1 (I405M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684752	NM_021939.4(FKBP10):c.523_552dup (p.Asp175_Thr184dup)	FKBP10	Duplication (inframe_insertion)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684751	NM_021939.4(FKBP10):c.1024dup (p.Thr342fs)	FKBP10 (T342fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684750	NM_021939.4(FKBP10):c.773T>G (p.Leu258Arg)	FKBP10 (L258R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684749	NM_000089.4(COL1A2):c.757G>C (p.Gly253Arg)	COL1A2 (G253R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684748	NM_005430.4(WNT1):c.501G>C (p.Trp167Cys)	WNT1 (W167C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 684747	NM_006129.5(BMP1):c.916A>C (p.Ser306Arg)	BMP1 (S306R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684746	NM_021939.4(FKBP10):c.918-2A>G	FKBP10	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684745	NM_022356.4(P3H1):c.1980dup (p.Val661fs)	P3H1 (V661fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684744	NM_022356.4(P3H1):c.2131dup (p.Leu711fs)	P3H1 (L711fs)	Duplication (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 684743	NM_002615.7(SERPINF1):c.868GAG[1] (p.Glu291del)	SERPINF1 (E104del +1 more)	Microsatellite (inframe_deletion)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684742	NM_002615.7(SERPINF1):c.742_747del (p.Lys248_Ala249del)	SERPINF1	Deletion (inframe_deletion)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684741	NM_002615.7(SERPINF1):c.621_623del (p.Leu208del)	SERPINF1 (L208del +1 more)	Deletion (inframe_deletion)	Osteogenesis imperfecta type III +1 more	GConflicting classifications of pathogenicity
Select item 684740	NM_000089.4(COL1A2):c.2434C>T (p.Pro812Ser)	COL1A2 (P812S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684739	NM_000089.4(COL1A2):c.2026-1_2042dup	COL1A2	Duplication (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 684738	NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp)	COL1A2 (G538D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 626346	NM_000088.4(COL1A1):c.3055G>T (p.Gly1019Cys)	COL1A1 (G1019C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic

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Items: 20