"GeneDx"[submitter] AND "COL27A1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 1166683	NM_032888.4(COL27A1):c.265G>A (p.Val89Ile)	COL27A1 (V89I)	Single nucleotide variant (missense variant)	Steel syndrome +1 more	GBenign
Select item 1311692	NM_032888.4(COL27A1):c.296C>T (p.Ala99Val)	COL27A1 (A99V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1166684	NM_032888.4(COL27A1):c.359A>G (p.Gln120Arg)	COL27A1 (Q120R)	Single nucleotide variant (missense variant)	Steel syndrome +1 more	GBenign
Select item 500322	NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys)	COL27A1 (R122C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2505625	NM_032888.4(COL27A1):c.496C>T (p.Arg166Cys)	COL27A1 (R166C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774433	NM_032888.4(COL27A1):c.793G>A (p.Ala265Thr)	COL27A1 (A265T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1186900	NM_032888.4(COL27A1):c.1160del (p.Pro387fs)	COL27A1 (P387fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1165175	NM_032888.4(COL27A1):c.1264G>A (p.Ala422Thr)	COL27A1 (A422T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2662346	NM_032888.4(COL27A1):c.1579G>A (p.Gly527Ser)	COL27A1 (G527S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1166685	NM_032888.4(COL27A1):c.1610T>C (p.Ile537Thr)	COL27A1 (I537T)	Single nucleotide variant (missense variant)	Steel syndrome +1 more	GBenign
Select item 152172	GRCh38/hg38 9q32(chr9:114193726-114677465)x3	AKNA, ATP6V1G1 +32 more	Copy number gain	See cases	GBenign
Select item 143245	NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg)	COL27A1 (G697R)	Single nucleotide variant (missense variant)	Steel syndrome +1 more	GPathogenic
Select item 1308030	NM_032888.4(COL27A1):c.2368-2A>G	COL27A1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1311691	NM_032888.4(COL27A1):c.2795C>A (p.Ala932Asp)	COL27A1 (A932D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1141619	NM_032888.4(COL27A1):c.3262C>A (p.Pro1088Thr)	COL27A1 (P1088T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 58482	GRCh38/hg38 9q32(chr9:114270395-114677524)x3	AKNA, ATP6V1G1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1181849	NM_032888.4(COL27A1):c.3628G>C (p.Gly1210Arg)	COL27A1 (G1210R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394918	NM_032888.4(COL27A1):c.4120C>G (p.Leu1374Val)	COL27A1, LOC126860736 (L1374V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1197859	NM_032888.4(COL27A1):c.4285C>T (p.Arg1429Trp)	COL27A1 (R1429W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167150	NM_032888.4(COL27A1):c.5154C>T (p.Ile1718=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1706324	NM_032888.4(COL27A1):c.5189C>T (p.Thr1730Met)	COL27A1 (T1730M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074967	NM_032888.4(COL27A1):c.5293A>C (p.Ile1765Leu)	COL27A1 (I1765L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 253682	GRCh37/hg19 9q32(chr9:116978042-117187294)x1	WHRN, ORM1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 25