"Ambry Genetics"[submitter] AND "COL8A2"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2474937	NM_005202.4(COL8A2):c.2003G>A (p.Arg668Gln)	COL8A2 (R603Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147824	NM_005202.4(COL8A2):c.2002C>T (p.Arg668Trp)	COL8A2 (R603W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603078	NM_005202.4(COL8A2):c.1961G>A (p.Gly654Asp)	COL8A2 (G654D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2717328	NM_005202.4(COL8A2):c.1882G>A (p.Val628Ile)	COL8A2 (V628I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147823	NM_005202.4(COL8A2):c.1855G>A (p.Val619Ile)	COL8A2 (V554I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147822	NM_005202.4(COL8A2):c.1843C>A (p.Pro615Thr)	COL8A2 (P550T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147821	NM_005202.4(COL8A2):c.1810G>A (p.Gly604Ser)	COL8A2 (G539S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2888150	NM_005202.4(COL8A2):c.1802G>C (p.Gly601Ala)	COL8A2 (G536A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2254140	NM_005202.4(COL8A2):c.1759G>A (p.Ala587Thr)	COL8A2 (A587T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1533975	NM_005202.4(COL8A2):c.1699G>A (p.Gly567Ser)	COL8A2 (G502S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2238537	NM_005202.4(COL8A2):c.1660G>A (p.Ala554Thr)	COL8A2 (A554T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147820	NM_005202.4(COL8A2):c.1654G>A (p.Glu552Lys)	COL8A2 (E487K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319665	NM_005202.4(COL8A2):c.1651G>A (p.Val551Met)	COL8A2 (V486M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1355266	NM_005202.4(COL8A2):c.1645G>A (p.Gly549Ser)	COL8A2 (G484S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2406239	NM_005202.4(COL8A2):c.1589C>A (p.Pro530His)	COL8A2 (P465H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228444	NM_005202.4(COL8A2):c.1586C>A (p.Pro529His)	COL8A2 (P464H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400390	NM_005202.4(COL8A2):c.1580C>A (p.Pro527Gln)	COL8A2 (P527Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598926	NM_005202.4(COL8A2):c.1576C>T (p.Pro526Ser)	COL8A2 (P526S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303248	NM_005202.4(COL8A2):c.1553C>T (p.Thr518Met)	COL8A2 (T518M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514644	NM_005202.4(COL8A2):c.1517C>T (p.Thr506Met)	COL8A2 (T441M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600846	NM_005202.4(COL8A2):c.1487G>A (p.Arg496Lys)	COL8A2 (R496K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3147818	NM_005202.4(COL8A2):c.1300C>T (p.Arg434Cys)	COL8A2 (R434C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147817	NM_005202.4(COL8A2):c.1297G>A (p.Gly433Ser)	COL8A2 (G368S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554794	NM_005202.4(COL8A2):c.1286C>A (p.Pro429Gln)	COL8A2 (P364Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302231	NM_005202.4(COL8A2):c.1276A>C (p.Lys426Gln)	COL8A2 (K361Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147816	NM_005202.4(COL8A2):c.1255C>T (p.Pro419Ser)	COL8A2 (P419S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256325	NM_005202.4(COL8A2):c.1249C>T (p.His417Tyr)	COL8A2 (H352Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570407	NM_005202.4(COL8A2):c.1223C>T (p.Pro408Leu)	COL8A2 (P408L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613976	NM_005202.4(COL8A2):c.1165G>A (p.Val389Met)	COL8A2 (V389M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536953	NM_005202.4(COL8A2):c.1140G>C (p.Glu380Asp)	COL8A2 (E380D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269162	NM_005202.4(COL8A2):c.1114C>T (p.Arg372Cys)	COL8A2 (R307C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2607152	NM_005202.4(COL8A2):c.1004T>C (p.Leu335Pro)	COL8A2 (L335P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279669	NM_005202.4(COL8A2):c.968C>T (p.Pro323Leu)	COL8A2 (P258L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390723	NM_005202.4(COL8A2):c.835G>A (p.Gly279Ser)	COL8A2 (G279S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147828	NM_005202.4(COL8A2):c.814A>C (p.Lys272Gln)	COL8A2 (K272Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231632	NM_005202.4(COL8A2):c.629T>G (p.Val210Gly)	COL8A2 (V145G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554155	NM_005202.4(COL8A2):c.605G>A (p.Arg202Gln)	COL8A2 (R137Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474655	NM_005202.4(COL8A2):c.511A>G (p.Ile171Val)	COL8A2 (I106V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2365911	NM_005202.4(COL8A2):c.427C>T (p.Arg143Trp)	COL8A2 (R143W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325102	NM_005202.4(COL8A2):c.424C>T (p.Leu142Phe)	COL8A2 (L77F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147826	NM_005202.4(COL8A2):c.388C>T (p.Leu130Phe)	COL8A2 (L130F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286056	NM_005202.4(COL8A2):c.262C>T (p.Arg88Trp)	COL8A2 (R23W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515194	NM_005202.4(COL8A2):c.215C>T (p.Pro72Leu)	COL8A2 (P72L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147825	NM_005202.4(COL8A2):c.206C>T (p.Pro69Leu)	COL8A2 (P4L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542966	NM_005202.4(COL8A2):c.130A>G (p.Ile44Val)	COL8A2, LOC129930125 (I44V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2401336	NM_005202.4(COL8A2):c.104C>T (p.Ala35Val)	COL8A2, LOC129930125 (A35V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147827	NM_005202.4(COL8A2):c.73C>T (p.Arg25Trp)	COL8A2, LOC129930125 (R25W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361372	NM_005202.4(COL8A2):c.71C>T (p.Pro24Leu)	COL8A2, LOC129930125 (P24L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 48