ClinVar for Gene (Select 1295) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147815	NM_020351.4(COL8A1):c.901A>G (p.Ile301Val)	COL8A1 (I301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147814	NM_020351.4(COL8A1):c.184C>T (p.Pro62Ser)	COL8A1 (P62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147813	NM_020351.4(COL8A1):c.1630C>G (p.Pro544Ala)	COL8A1 (P544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147812	NM_020351.4(COL8A1):c.1621C>A (p.His541Asn)	COL8A1 (H541N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147811	NM_020351.4(COL8A1):c.14C>A (p.Pro5His)	COL8A1 (P5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147810	NM_020351.4(COL8A1):c.1456G>A (p.Gly486Arg)	COL8A1 (G486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3057980	NM_020351.4(COL8A1):c.213C>A (p.Gly71=)	COL8A1	Single nucleotide variant (synonymous variant)	COL8A1-related disorder	GLikely benign
Select item 3055600	NM_020351.4(COL8A1):c.1228C>T (p.Pro410Ser)	COL8A1 (P410S)	Single nucleotide variant (missense variant)	COL8A1-related disorder	GBenign
Select item 3046113	NM_020351.4(COL8A1):c.750G>A (p.Ala250=)	COL8A1	Single nucleotide variant (synonymous variant)	COL8A1-related disorder	GLikely benign
Select item 3042898	NM_020351.4(COL8A1):c.2044A>G (p.Asn682Asp)	COL8A1 (N682D)	Single nucleotide variant (missense variant)	COL8A1-related disorder	GLikely benign
Select item 3042627	NM_020351.4(COL8A1):c.287C>T (p.Ala96Val)	COL8A1 (A96V)	Single nucleotide variant (missense variant)	COL8A1-related disorder	GLikely benign
Select item 2617762	NM_020351.4(COL8A1):c.2110G>A (p.Ala704Thr)	COL8A1 (A704T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604998	NM_020351.4(COL8A1):c.1844T>G (p.Met615Arg)	COL8A1 (M615R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592504	NM_020351.4(COL8A1):c.284C>T (p.Pro95Leu)	COL8A1 (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2539627	NM_020351.4(COL8A1):c.1772G>C (p.Gly591Ala)	COL8A1 (G591A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518854	NM_020351.4(COL8A1):c.2078A>T (p.Lys693Ile)	COL8A1 (K693I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487827	NM_020351.4(COL8A1):c.1897G>C (p.Val633Leu)	COL8A1 (V633L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487077	NM_020351.4(COL8A1):c.860G>C (p.Gly287Ala)	COL8A1 (G287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486323	NM_020351.4(COL8A1):c.274G>A (p.Glu92Lys)	COL8A1 (E92K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472425	NM_020351.4(COL8A1):c.1562C>T (p.Pro521Leu)	COL8A1 (P521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458143	NM_020351.4(COL8A1):c.1775T>A (p.Ile592Asn)	COL8A1 (I592N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408515	NM_020351.4(COL8A1):c.1998C>G (p.His666Gln)	COL8A1 (H666Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399496	NM_020351.4(COL8A1):c.310G>A (p.Val104Ile)	COL8A1 (V104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378837	NM_020351.4(COL8A1):c.1073C>T (p.Pro358Leu)	COL8A1 (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362924	NM_020351.4(COL8A1):c.1973C>G (p.Pro658Arg)	COL8A1 (P658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344294	NM_020351.4(COL8A1):c.1788A>C (p.Lys596Asn)	COL8A1 (K596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320319	NM_020351.4(COL8A1):c.206C>T (p.Ala69Val)	COL8A1 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274100	NM_020351.4(COL8A1):c.121C>T (p.Pro41Ser)	COL8A1 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264662	NM_020351.4(COL8A1):c.1603C>G (p.Pro535Ala)	COL8A1 (P535A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263664	NM_020351.4(COL8A1):c.2081A>C (p.Lys694Thr)	COL8A1 (K694T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251709	NM_020351.4(COL8A1):c.317A>G (p.Lys106Arg)	COL8A1 (K106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807654	GRCh37/hg19 3q12.1(chr3:99428530-99586184)x1	CMSS1, COL8A1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 994357	NM_020351.4(COL8A1):c.673C>G (p.Arg225Gly)	COL8A1 (R225G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 784470	NM_020351.4(COL8A1):c.1605C>T (p.Pro535=)	COL8A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 162163	NM_020351.4(COL8A1):c.-4+17674G>T	COL8A1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 155522	GRCh38/hg38 3q12.1(chr3:99053501-99695446)x3	COL8A1, LOC126806749 +3 more	Copy number gain	See cases	GUncertain significance
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 150224	GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1	CMSS1, COL8A1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 148465	GRCh38/hg38 3q12.1(chr3:99755242-100236704)x1	CMSS1, COL8A1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 49