"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL10A1"[ - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256259	NM_000493.4(COL10A1):c.6_7insCCC	COL10A1, NT5DC1	Insertion (3 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 2631126	NM_000493.4(COL10A1):c.1859C>T (p.Pro620Leu)	COL10A1, NT5DC1 (P620L)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition	GUncertain significance
Select item 256261	NM_000493.4(COL10A1):c.1809G>C (p.Val603=)	NT5DC1, COL10A1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 2629714	NM_000493.4(COL10A1):c.1662T>A (p.Phe554Leu)	COL10A1, NT5DC1 (F554L)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition	GLikely pathogenic
Select item 256260	NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg)	COL10A1, NT5DC1 (G545R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 744492	NM_000493.4(COL10A1):c.1467C>T (p.Thr489=)	NT5DC1, COL10A1	Single nucleotide variant (synonymous variant +1 more)	COL10A1-related condition +1 more	GBenign/Likely benign
Select item 1204875	NM_000493.4(COL10A1):c.1300_1322del (p.Gly434fs)	COL10A1, NT5DC1 (G434fs)	Deletion (frameshift variant +1 more)	COL10A1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2072596	NM_000493.4(COL10A1):c.1261C>T (p.Pro421Ser)	COL10A1, NT5DC1 (P421S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1166809	NM_000493.4(COL10A1):c.1098A>C (p.Pro366=)	NT5DC1, COL10A1	Single nucleotide variant (synonymous variant +1 more)	COL10A1-related condition +1 more	GBenign/Likely benign
Select item 1595269	NM_000493.4(COL10A1):c.1052T>A (p.Ile351Asn)	COL10A1, NT5DC1 (I351N)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition +1 more	GLikely benign
Select item 2628690	NM_000493.4(COL10A1):c.983C>G (p.Ala328Gly)	COL10A1, NT5DC1 (A328G)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition	GUncertain significance
Select item 3059834	NM_000493.4(COL10A1):c.871_892del (p.Gly291fs)	COL10A1, NT5DC1 (G291fs)	Deletion (frameshift variant +1 more)	COL10A1-related condition	GUncertain significance
Select item 1477507	NM_000493.4(COL10A1):c.839C>G (p.Thr280Arg)	COL10A1, NT5DC1 (T280R)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition +1 more	GUncertain significance
Select item 2630178	NM_000493.4(COL10A1):c.797C>G (p.Pro266Arg)	COL10A1, NT5DC1 (P266R)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition	GUncertain significance
Select item 903874	NM_000493.4(COL10A1):c.625G>A (p.Gly209Ser)	COL10A1, NT5DC1 (G209S)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition +2 more	GBenign
Select item 355107	NM_000493.4(COL10A1):c.382G>A (p.Asp128Asn)	COL10A1, NT5DC1 (D128N)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition +2 more	GBenign
Select item 355113	NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg)	COL10A1, NT5DC1 (S50R)	Single nucleotide variant (missense variant +1 more)	COL10A1-related condition +3 more	GBenign/Likely benign
Select item 256262	NM_000493.4(COL10A1):c.80T>C (p.Met27Thr)	NT5DC1, COL10A1 (M27T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign