"GeneDx"[submitter] AND "NT5DC1"[gene] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 59526	GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3	COL10A1, DSE +31 more	Copy number gain	See cases	GUncertain significance
Select item 355085	NM_000493.4(COL10A1):c.*246T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 256259	NM_000493.4(COL10A1):c.6_7insCCC	COL10A1, NT5DC1	Insertion (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia +3 more	GBenign
Select item 355090	NM_000493.4(COL10A1):c.2038A>G (p.Met680Val)	COL10A1, NT5DC1 (M680V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817837	NM_000493.4(COL10A1):c.1914del (p.Ser639fs)	COL10A1, NT5DC1 (S639fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 355091	NM_000493.4(COL10A1):c.1851T>C (p.Asn617=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign/Likely benign
Select item 256261	NM_000493.4(COL10A1):c.1809G>C (p.Val603=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 449827	NM_000493.4(COL10A1):c.1796T>C (p.Phe599Ser)	COL10A1, NT5DC1 (F599S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2136455	NM_000493.4(COL10A1):c.1789T>C (p.Tyr597His)	COL10A1, NT5DC1 (Y597H)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 817448	NM_000493.4(COL10A1):c.1766_1767insAA (p.Phe589fs)	COL10A1, NT5DC1 (F589fs)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2578289	NM_000493.4(COL10A1):c.1725G>T (p.Leu575Phe)	COL10A1, NT5DC1 (L575F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 256260	NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg)	COL10A1, NT5DC1 (G545R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1204875	NM_000493.4(COL10A1):c.1300_1322del (p.Gly434fs)	COL10A1, NT5DC1 (G434fs)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2504322	NM_000493.4(COL10A1):c.1280C>T (p.Ala427Val)	COL10A1, NT5DC1 (A427V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2072596	NM_000493.4(COL10A1):c.1261C>T (p.Pro421Ser)	COL10A1, NT5DC1 (P421S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1302543	NM_000493.4(COL10A1):c.688C>T (p.Gln230Ter)	COL10A1, NT5DC1 (Q230*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3364173	NM_000493.4(COL10A1):c.617del (p.Gly206fs)	COL10A1, NT5DC1 (G206fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 355103	NM_000493.4(COL10A1):c.593G>A (p.Arg198His)	COL10A1, NT5DC1 (R198H)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign/Likely benign
Select item 1806565	NM_000493.4(COL10A1):c.551T>A (p.Met184Lys)	COL10A1, NT5DC1 (M184K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1329847	NM_000493.4(COL10A1):c.506C>A (p.Pro169His)	COL10A1, NT5DC1 (P169H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1201198	NM_000493.4(COL10A1):c.155-214T>C	COL10A1, NT5DC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274629	NM_000493.4(COL10A1):c.154+104C>T	COL10A1, NT5DC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256262	NM_000493.4(COL10A1):c.80T>C (p.Met27Thr)	COL10A1, NT5DC1 (M27T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 195078	NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp)	COL10A1, NT5DC1 (L8W)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +2 more	GBenign/Likely benign
Select item 452580	NM_000493.4(COL10A1):c.19T>C (p.Phe7Leu)	COL10A1, NT5DC1 (F7L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1289720	NM_000493.4(COL10A1):c.-15-56del	COL10A1, NT5DC1	Deletion (intron variant)	not provided	GBenign
Select item 1203034	NM_000493.4(COL10A1):c.-15-207T>G	COL10A1, NT5DC1	Single nucleotide variant (intron variant)	not provided	GLikely 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: 29