ClinVar for MedGen (Select 10498) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675161	NM_000089.4(COL1A2):c.432+2T>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GLikely pathogenic
Select item 1179140	NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)	LRP5 (T271M +1 more)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +9 more	GPathogenic/Likely pathogenic
Select item 1172590	NM_005032.7(PLS3):c.1512-1G>T	PLS3	Single nucleotide variant (splice acceptor variant)	Postmenopausal osteoporosis	GPathogenic
Select item 1074312	NM_000088.4(COL1A1):c.1614+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 623483	NM_002335.4(LRP5):c.3758G>A (p.Cys1253Tyr)	LRP5 (C1253Y +1 more)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis	GLikely pathogenic
Select item 578894	NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)	COL1A1 (D1332N)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 526896	NM_000089.4(COL1A2):c.671G>A (p.Arg224His)	COL1A2 (R224H)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +9 more	GConflicting classifications of pathogenicity
Select item 526891	NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)	COL1A2 (C18R)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +8 more	GUncertain significance
Select item 456848	NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	COL1A2 (G328S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +8 more	GPathogenic
Select item 450546	NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)	COL1A1 (G329R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GPathogenic/Likely pathogenic
Select item 450185	NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	COL1A1 (R1399H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 447141	NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	COL1A1 (G788S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +7 more	GPathogenic
Select item 425599	NM_000088.4(COL1A1):c.1299+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 425580	NM_000088.4(COL1A1):c.1821+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	COL1A1-related disorder +9 more	GPathogenic
Select item 388459	NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)	COL1A1 (P459T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GConflicting classifications of pathogenicity
Select item 373178	NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)	COL1A2 (N1285H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +12 more	GConflicting classifications of pathogenicity
Select item 324103	NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)	COL1A1 (V1057I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +8 more	GConflicting classifications of pathogenicity
Select item 324102	NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)	COL1A1 (V1078A)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +10 more	GConflicting classifications of pathogenicity
Select item 287320	NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	COL1A1 (R697*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 281098	NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)	COL1A2 (P1016H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +11 more	GConflicting classifications of pathogenicity
Select item 265387	NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)	COL1A2 (G193S)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +4 more	GPathogenic
Select item 216908	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	COL1A2 (G1012S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 183255	NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)	LRP5 (R1036Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 1 +11 more	GConflicting classifications of pathogenicity
Select item 37143	NM_001025295.3(IFITM5):c.-14C>T	IFITM5, PGGHG	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 5 +3 more	GPathogenic
Select item 36482	NM_002335.4(LRP5):c.4635C>T (p.Thr1545=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 36481	NM_002335.4(LRP5):c.4000+9C>T	LRP5	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 35925	NM_000088.4(COL1A1):c.579del (p.Gly194fs)	COL1A1 (G194fs)	Deletion (frameshift variant)	Postmenopausal osteoporosis +3 more	GPathogenic/Likely pathogenic
Select item 17347	NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)	COL1A1 (R1014C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 17312	NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)	COL1A1 (G332R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +9 more	GPathogenic
Select item 17258	NM_000089.4(COL1A2):c.1981G>A (p.Gly661Ser)	COL1A2 (G661S)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis	GPathogenic
Select item 17250	NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)	COL1A2 (R708Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 31