"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "COL1A2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682983	NM_000089.4(COL1A2):c.149C>A (p.Pro50Gln)	COL1A2 (P50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163286	NM_000089.4(COL1A2):c.256G>C (p.Val86Leu)	COL1A2 (V86L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 423747	NM_000089.4(COL1A2):c.286A>G (p.Met96Val)	COL1A2 (M96V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 964625	NM_000089.4(COL1A2):c.287T>A (p.Met96Lys)	COL1A2 (M96K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 380763	NM_000089.4(COL1A2):c.378+6T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +2 more	GUncertain significance
Select item 547235	NM_000089.4(COL1A2):c.395G>A (p.Arg132His)	COL1A2 (R132H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2682984	NM_000089.4(COL1A2):c.539G>A (p.Arg180Lys)	COL1A2 (R180K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163005	NM_000089.4(COL1A2):c.679G>T (p.Ala227Ser)	COL1A2 (A227S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020809	NM_000089.4(COL1A2):c.980G>A (p.Arg327His)	COL1A2 (R327H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3379779	NM_000089.4(COL1A2):c.1256C>T (p.Pro419Leu)	COL1A2 (P419L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163006	NM_000089.4(COL1A2):c.1349_1350+2del	COL1A2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 951887	NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile)	COL1A2 (V468I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1163007	NM_000089.4(COL1A2):c.1475T>C (p.Ile492Thr)	COL1A2 (I492T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 3379780	NM_000089.4(COL1A2):c.1841C>A (p.Pro614His)	COL1A2 (P614H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196727	NM_000089.4(COL1A2):c.1966G>A (p.Glu656Lys)	COL1A2 (E656K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524189	NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala)	COL1A2 (G778A)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 431901	NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)	COL1A2 (P809S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 585500	NM_000089.4(COL1A2):c.2428C>T (p.Pro810Ser)	COL1A2 (P810S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 360962	NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)	COL1A2 (R819H)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +6 more	GConflicting classifications of pathogenicity
Select item 1343353	NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)	COL1A2 (G901S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GPathogenic/Likely pathogenic
Select item 35944	NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)	COL1A2 (G943R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 958335	NM_000089.4(COL1A2):c.2933G>A (p.Arg978His)	COL1A2 (R978H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 855927	NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp)	COL1A2 (A990D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1163008	NM_000089.4(COL1A2):c.3196G>A (p.Gly1066Ser)	COL1A2 (G1066S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1380342	NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn)	COL1A2 (D1120N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic
Select item 2682985	NM_000089.4(COL1A2):c.3481C>T (p.Arg1161Cys)	COL1A2 (R1161C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 636431	NM_000089.4(COL1A2):c.4084C>T (p.Pro1362Ser)	COL1A2 (P1362S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 27