NT5DC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
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 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 2354373	NM_152729.3(NT5DC1):c.40G>A (p.Gly14Arg)	NT5DC1 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400781	NM_152729.3(NT5DC1):c.124G>A (p.Val42Ile)	NT5DC1 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461031	NM_152729.3(NT5DC1):c.158A>G (p.Asn53Ser)	NT5DC1 (N53S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202502	NM_152729.3(NT5DC1):c.202T>A (p.Leu68Met)	NT5DC1 (L68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202503	NM_152729.3(NT5DC1):c.222C>A (p.Asn74Lys)	NT5DC1 (N74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202504	NM_152729.3(NT5DC1):c.304G>T (p.Ala102Ser)	NT5DC1 (A102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363041	NM_152729.3(NT5DC1):c.351G>A (p.Met117Ile)	NT5DC1 (M117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202505	NM_152729.3(NT5DC1):c.385A>C (p.Asn129His)	NT5DC1 (N129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216050	NM_152729.3(NT5DC1):c.424G>A (p.Val142Met)	NT5DC1 (V142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262449	NM_152729.3(NT5DC1):c.470A>G (p.Asp157Gly)	NT5DC1 (D157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202506	NM_152729.3(NT5DC1):c.481G>A (p.Asp161Asn)	NT5DC1 (D161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309802	NM_152729.3(NT5DC1):c.488T>C (p.Val163Ala)	NT5DC1 (V163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 905642	NM_000493.4(COL10A1):c.*1145A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355067	NM_000493.4(COL10A1):c.*1106G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 905643	NM_000493.4(COL10A1):c.*1085G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355068	NM_000493.4(COL10A1):c.*1042A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 905644	NM_000493.4(COL10A1):c.*1038C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355069	NM_000493.4(COL10A1):c.*1026G>A	COL10A1, NT5DC1	Single nucleotide variant (intron variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355070	NM_000493.4(COL10A1):c.*1025C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 906153	NM_000493.4(COL10A1):c.*900G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355071	NM_000493.4(COL10A1):c.*833T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia	GLikely benign
Select item 355072	NM_000493.4(COL10A1):c.*790T>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355073	NM_000493.4(COL10A1):c.*674A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355074	NM_000493.4(COL10A1):c.*653T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 906154	NM_000493.4(COL10A1):c.*572T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355075	NM_000493.4(COL10A1):c.*553del	COL10A1, NT5DC1	Deletion (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia	GLikely benign
Select item 355076	NM_000493.4(COL10A1):c.*511T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 906155	NM_000493.4(COL10A1):c.*455T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 907159	NM_000493.4(COL10A1):c.*428G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355077	NM_000493.4(COL10A1):c.*416G>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355078	NM_000493.4(COL10A1):c.*328dup	COL10A1, NT5DC1	Duplication (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia	GUncertain significance
Select item 355079	NM_000493.4(COL10A1):c.*328del	COL10A1, NT5DC1	Deletion (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia	GUncertain significance
Select item 907160	NM_000493.4(COL10A1):c.*324A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355080	NM_000493.4(COL10A1):c.*318A>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355081	NM_000493.4(COL10A1):c.*317T>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 355082	NM_000493.4(COL10A1):c.*315dup	COL10A1, NT5DC1	Duplication (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia	GLikely benign
Select item 355083	NM_000493.4(COL10A1):c.*315A>T	COL10A1, NT5DC1	Single nucleotide variant (intron variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 907161	NM_000493.4(COL10A1):c.*292A>G	COL10A1, NT5DC1	Single nucleotide variant (intron variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355084	NM_000493.4(COL10A1):c.*291C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely benign
Select item 355085	NM_000493.4(COL10A1):c.*246T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GBenign/Likely benign
Select item 355086	NM_000493.4(COL10A1):c.*196T>C	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 903803	NM_000493.4(COL10A1):c.*185T>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355087	NM_000493.4(COL10A1):c.*157A>G	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 903804	NM_000493.4(COL10A1):c.*151C>A	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GBenign
Select item 903805	NM_000493.4(COL10A1):c.*137C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 903806	NM_000493.4(COL10A1):c.*52C>T	COL10A1, NT5DC1	Single nucleotide variant (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 355088	NM_000493.4(COL10A1):c.*13del	COL10A1, NT5DC1	Deletion (3 prime UTR variant +1 more)	Metaphyseal chondrodysplasia	GLikely benign
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 734392	NM_000493.4(COL10A1):c.2040G>C (p.Met680Ile)	COL10A1, NT5DC1 (M680I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2993723	NM_000493.4(COL10A1):c.2039T>A (p.Met680Lys)	COL10A1, NT5DC1 (M680K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 597509	NM_000493.4(COL10A1):c.2039T>C (p.Met680Thr)	COL10A1, NT5DC1 (M680T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3010240	NM_000493.4(COL10A1):c.2032G>C (p.Ala678Pro)	COL10A1, NT5DC1 (A678P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2703802	NM_000493.4(COL10A1):c.2027T>C (p.Leu676Pro)	COL10A1, NT5DC1 (L676P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1506880	NM_000493.4(COL10A1):c.2026C>G (p.Leu676Val)	COL10A1, NT5DC1 (L676V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 861850	NM_000493.4(COL10A1):c.2021G>A (p.Gly674Glu)	NT5DC1, COL10A1 (G674E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224419	NM_000493.4(COL10A1):c.2017T>C (p.Ser673Pro)	COL10A1, NT5DC1 (S673P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1409040	NM_000493.4(COL10A1):c.2014T>G (p.Phe672Val)	COL10A1, NT5DC1 (F672V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1224437	NM_000493.4(COL10A1):c.2010dup (p.Ser671fs)	NT5DC1, COL10A1 (S671fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 17477	NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro)	COL10A1, NT5DC1 (S671P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2738616	NM_000493.4(COL10A1):c.2007C>T (p.His669=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1057031	NM_000493.4(COL10A1):c.2003T>C (p.Val668Ala)	COL10A1, NT5DC1 (V668A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2785681	NM_000493.4(COL10A1):c.1997A>G (p.Glu666Gly)	COL10A1, NT5DC1 (E666G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041732	NM_000493.4(COL10A1):c.1995dup (p.Glu666Ter)	COL10A1, NT5DC1 (E666*)	Duplication (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1475344	NM_000493.4(COL10A1):c.1996G>T (p.Glu666Ter)	COL10A1, NT5DC1 (E666*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1047790	NM_000493.4(COL10A1):c.1994_1995del (p.Ser664_Ser665insTer)	COL10A1, NT5DC1	Microsatellite (nonsense +1 more)	not provided	GPathogenic
Select item 2836088	NM_000493.4(COL10A1):c.1990_1991del (p.Ser664fs)	COL10A1, NT5DC1 (S664fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1062777	NM_000493.4(COL10A1):c.1989C>A (p.Tyr663Ter)	COL10A1, NT5DC1 (Y663*)	Single nucleotide variant (nonsense +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GPathogenic
Select item 29632	NM_000493.4(COL10A1):c.1989C>G (p.Tyr663Ter)	COL10A1, NT5DC1	Single nucleotide variant (nonsense +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 1619880	NM_000493.4(COL10A1):c.1983C>G (p.Gly661=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419464	NM_000493.4(COL10A1):c.1976C>T (p.Ser659Leu)	COL10A1, NT5DC1 (S659L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1021623	NM_000493.4(COL10A1):c.1976C>G (p.Ser659Ter)	COL10A1, NT5DC1 (S659*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1123489	NM_000493.4(COL10A1):c.1974G>A (p.Glu658=)	COL10A1, NT5DC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1903253	NM_000493.4(COL10A1):c.1970C>A (p.Ala657Asp)	COL10A1, NT5DC1 (A657D)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2012789	NM_000493.4(COL10A1):c.1968T>G (p.Asn656Lys)	COL10A1, NT5DC1 (N656K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405298	NM_000493.4(COL10A1):c.1957C>T (p.Gln653Ter)	NT5DC1, COL10A1 (Q653*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 976106	NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs)	COL10A1, NT5DC1 (Q653fs)	Duplication (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 2066469	NM_000493.4(COL10A1):c.1955T>C (p.Leu652Pro)	NT5DC1, COL10A1 (L652P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1679882	NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg)	COL10A1, NT5DC1 (L652R)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 2656861	NM_000493.4(COL10A1):c.1954C>T (p.Leu652Phe)	COL10A1, NT5DC1 (L652F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2706514	NM_000493.4(COL10A1):c.1953del (p.Trp651fs)	COL10A1, NT5DC1 (W651fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1679893	NM_000493.4(COL10A1):c.1951_1952dup (p.Trp651fs)	COL10A1, NT5DC1 (W651fs)	Microsatellite (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 802257	NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del)	COL10A1, NT5DC1	Deletion (inframe_deletion +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 17473	NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter)	COL10A1, NT5DC1 (W651*)	Single nucleotide variant (nonsense +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 2440193	NM_000493.4(COL10A1):c.1952G>T (p.Trp651Leu)	COL10A1, NT5DC1 (W651L)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GUncertain significance
Select item 988566	NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter)	NT5DC1, COL10A1 (W651*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1719581	NM_000493.4(COL10A1):c.1951T>G (p.Trp651Gly)	COL10A1, NT5DC1 (W651G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 17474	NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg)	COL10A1, NT5DC1 (W651R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2046660	NM_000493.4(COL10A1):c.1946del (p.Gln649fs)	COL10A1, NT5DC1 (Q649fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic

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