"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL27A1"[ - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 755433	NM_032888.4(COL27A1):c.303G>A (p.Val101=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GLikely benign
Select item 783556	NM_032888.4(COL27A1):c.370C>G (p.Leu124Val)	COL27A1 (L124V)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GBenign/Likely benign
Select item 745714	NM_032888.4(COL27A1):c.612G>A (p.Pro204=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GBenign/Likely benign
Select item 735619	NM_032888.4(COL27A1):c.619G>A (p.Val207Ile)	COL27A1 (V207I)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GLikely benign
Select item 742254	NM_032888.4(COL27A1):c.739G>A (p.Gly247Arg)	COL27A1 (G247R)	Single nucleotide variant (missense variant)	COL27A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3053403	NM_032888.4(COL27A1):c.966G>T (p.Leu322=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition	GLikely benign
Select item 738719	NM_032888.4(COL27A1):c.1041G>C (p.Thr347=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GBenign/Likely benign
Select item 763198	NM_032888.4(COL27A1):c.1135A>T (p.Ile379Phe)	COL27A1 (I379F)	Single nucleotide variant (missense variant)	Steel syndrome +2 more	GLikely benign
Select item 715016	NM_032888.4(COL27A1):c.1163C>T (p.Thr388Ile)	COL27A1 (T388I)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GBenign
Select item 786144	NM_032888.4(COL27A1):c.1310C>T (p.Pro437Leu)	COL27A1 (P437L)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GLikely benign
Select item 1109247	NM_032888.4(COL27A1):c.1365C>A (p.Pro455=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 763589	NM_032888.4(COL27A1):c.1620A>G (p.Glu540=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 724889	NM_032888.4(COL27A1):c.1655G>A (p.Arg552Gln)	COL27A1 (R552Q)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GBenign/Likely benign
Select item 716538	NM_032888.4(COL27A1):c.2113C>T (p.Pro705Ser)	COL27A1 (P705S)	Single nucleotide variant (missense variant)	Steel syndrome +2 more	GBenign/Likely benign
Select item 2631983	NM_032888.4(COL27A1):c.2116G>A (p.Gly706Arg)	COL27A1 (G706R)	Single nucleotide variant (missense variant)	COL27A1-related condition	GUncertain significance
Select item 750763	NM_032888.4(COL27A1):c.2323-8C>T	COL27A1	Single nucleotide variant (intron variant)	COL27A1-related condition +1 more	GLikely benign
Select item 1150733	NM_032888.4(COL27A1):c.2482T>C (p.Leu828=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GLikely benign
Select item 748931	NM_032888.4(COL27A1):c.2622G>T (p.Gly874=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GLikely benign
Select item 742065	NM_032888.4(COL27A1):c.2724C>T (p.Pro908=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GLikely benign
Select item 712724	NM_032888.4(COL27A1):c.2835+6A>G	COL27A1	Single nucleotide variant (intron variant)	COL27A1-related condition +1 more	GLikely benign
Select item 708793	NM_032888.4(COL27A1):c.2858C>T (p.Pro953Leu)	COL27A1 (P953L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 709860	NM_032888.4(COL27A1):c.2980-3T>C	COL27A1	Single nucleotide variant (intron variant)	COL27A1-related condition +1 more	GBenign/Likely benign
Select item 769355	NM_032888.4(COL27A1):c.2988G>A (p.Met996Ile)	COL27A1 (M996I)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GLikely benign
Select item 788555	NM_032888.4(COL27A1):c.3281G>A (p.Arg1094Gln)	COL27A1 (R1094Q)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GBenign/Likely benign
Select item 738643	NM_032888.4(COL27A1):c.3535C>G (p.Gln1179Glu)	COL27A1 (Q1179E)	Single nucleotide variant (missense variant)	COL27A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 740192	NM_032888.4(COL27A1):c.3747C>T (p.Gly1249=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GBenign
Select item 1159536	NM_032888.4(COL27A1):c.3951G>A (p.Val1317=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GBenign/Likely benign
Select item 755057	NM_032888.4(COL27A1):c.4071C>T (p.Arg1357=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GLikely benign
Select item 1081255	NM_032888.4(COL27A1):c.4701+9C>T	COL27A1	Single nucleotide variant (intron variant)	COL27A1-related condition +1 more	GLikely benign
Select item 774434	NM_032888.4(COL27A1):c.4728C>T (p.Leu1576=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related condition +1 more	GLikely benign
Select item 1096980	NM_032888.4(COL27A1):c.4939-7G>A	COL27A1	Single nucleotide variant (intron variant)	COL27A1-related condition +1 more	GLikely benign
Select item 725068	NM_032888.4(COL27A1):c.5063G>A (p.Arg1688Gln)	COL27A1 (R1688Q)	Single nucleotide variant (missense variant)	COL27A1-related condition +2 more	GBenign/Likely benign
Select item 713476	NM_032888.4(COL27A1):c.5168A>G (p.Asn1723Ser)	COL27A1 (N1723S)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GBenign
Select item 740457	NM_032888.4(COL27A1):c.5197A>G (p.Lys1733Glu)	COL27A1 (K1733E)	Single nucleotide variant (missense variant)	COL27A1-related condition +1 more	GLikely benign
Select item 763326	NM_032888.4(COL27A1):c.5217+6C>T	COL27A1	Single nucleotide variant (intron variant)	COL27A1-related condition +1 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35