319[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1178

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 1286833	NM_001369268.1(ACAN):c.-7-300G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250552	NM_001369268.1(ACAN):c.-7-136G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2751996	NM_001369268.1(ACAN):c.-7-2A>G	ACAN	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 635418	NM_001369268.1(ACAN):c.-7-2A>T	ACAN	Single nucleotide variant (splice acceptor variant)	Osteochondritis dissecans	GLikely pathogenic
Select item 386704	NM_001369268.1(ACAN):c.3G>A (p.Met1Ile)	ACAN (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941162	NM_001369268.1(ACAN):c.6C>T (p.Thr2=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435331	NM_001369268.1(ACAN):c.11T>C (p.Leu4Ser)	ACAN (L4S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2421679	NM_001369268.1(ACAN):c.13C>T (p.Leu5Phe)	ACAN (L5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822615	NM_001369268.1(ACAN):c.15C>T (p.Leu5=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578195	NM_001369268.1(ACAN):c.17G>A (p.Trp6Ter)	ACAN (W6*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 2632832	NM_001369268.1(ACAN):c.25G>C (p.Val9Leu)	ACAN (V9L)	Single nucleotide variant (missense variant)	ACAN-related disorder	GUncertain significance
Select item 1961128	NM_001369268.1(ACAN):c.25G>A (p.Val9Met)	ACAN (V9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2756616	NM_001369268.1(ACAN):c.31_32del (p.Leu11fs)	ACAN (L11fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 828193	NM_001369268.1(ACAN):c.37del (p.Val13fs)	ACAN (V13fs)	Deletion (frameshift variant)	Spondyloepimetaphyseal dysplasia, aggrecan type	GUncertain significance
Select item 1317033	NM_001369268.1(ACAN):c.50C>T (p.Ala17Val)	ACAN (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 760057	NM_001369268.1(ACAN):c.70+9A>T	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1561350	NM_001369268.1(ACAN):c.70+10T>C	ACAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922570	NM_001369268.1(ACAN):c.70+12C>A	ACAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983105	NM_001369268.1(ACAN):c.70+13C>T	ACAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264293	NM_001369268.1(ACAN):c.71-189del	ACAN	Deletion (intron variant)	not provided	GBenign
Select item 1261820	NM_001369268.1(ACAN):c.71-187G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 759607	NM_001369268.1(ACAN):c.71-10T>C	ACAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528261	NM_001369268.1(ACAN):c.72C>A (p.Asp24Glu)	ACAN (D24E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1399355	NM_001369268.1(ACAN):c.79A>G (p.Asn27Asp)	ACAN (N27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935847	NM_001369268.1(ACAN):c.80A>G (p.Asn27Ser)	ACAN (N27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694840	NM_001369268.1(ACAN):c.81C>T (p.Asn27=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183727	NM_001369268.1(ACAN):c.84G>A (p.Ser28=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718094	NM_001369268.1(ACAN):c.89G>A (p.Ser30Asn)	ACAN (S30N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679113	NM_001369268.1(ACAN):c.91G>T (p.Val31Phe)	ACAN (V31F)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 2068482	NM_001369268.1(ACAN):c.103del (p.Gln35fs)	ACAN (Q35fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2776707	NM_001369268.1(ACAN):c.106C>T (p.Pro36Ser)	ACAN (P36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566805	NM_001369268.1(ACAN):c.108G>A (p.Pro36=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1599247	NM_001369268.1(ACAN):c.113C>T (p.Pro38Leu)	ACAN (P38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1601690	NM_001369268.1(ACAN):c.114G>A (p.Pro38=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2979640	NM_001369268.1(ACAN):c.123C>A (p.Val41=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572529	NM_001369268.1(ACAN):c.132del (p.Thr45fs)	ACAN (T45fs)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 975885	NM_001369268.1(ACAN):c.130G>A (p.Gly44Arg)	ACAN (G44R)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 2144748	NM_001369268.1(ACAN):c.134C>A (p.Thr45Asn)	ACAN (T45N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562266	NM_001369268.1(ACAN):c.135C>T (p.Thr45=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873831	NM_001369268.1(ACAN):c.143C>T (p.Thr48Ile)	ACAN (T48I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710200	NM_001369268.1(ACAN):c.147C>G (p.Ile49Met)	ACAN (I49M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879760	NM_001369268.1(ACAN):c.148C>T (p.Pro50Ser)	ACAN (P50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740798	NM_001369268.1(ACAN):c.162C>T (p.Ile54=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190697	NM_001369268.1(ACAN):c.163G>C (p.Asp55His)	ACAN (D55H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175622	NM_001369268.1(ACAN):c.164A>G (p.Asp55Gly)	ACAN (D55G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903195	NM_001369268.1(ACAN):c.165C>T (p.Asp55=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534241	NM_001369268.1(ACAN):c.168C>T (p.Pro56=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 284706	NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)	ACAN (T62N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287638	NM_001369268.1(ACAN):c.186C>T (p.Thr62=)	ACAN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2074585	NM_001369268.1(ACAN):c.187G>A (p.Ala63Thr)	ACAN (A63T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398387	NM_001369268.1(ACAN):c.187G>C (p.Ala63Pro)	ACAN (A63P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584787	NM_001369268.1(ACAN):c.188C>A (p.Ala63Asp)	ACAN (A63D)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type	GUncertain significance
Select item 2573467	NM_001369268.1(ACAN):c.194C>A (p.Ser65Tyr)	ACAN (S65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 452086	NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr)	ACAN (A67T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1916336	NM_001369268.1(ACAN):c.203C>A (p.Pro68Gln)	ACAN (P68Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790874	NM_001369268.1(ACAN):c.204A>C (p.Pro68=)	ACAN	Single nucleotide variant (synonymous variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 1644762	NM_001369268.1(ACAN):c.205C>T (p.Leu69=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154834	NM_001369268.1(ACAN):c.217A>G (p.Ile73Val)	ACAN (I73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976161	NM_001369268.1(ACAN):c.221dup (p.Trp75fs)	ACAN (W75fs)	Duplication (frameshift variant)	Osteochondritis dissecans	GLikely pathogenic
Select item 440749	NM_001369268.1(ACAN):c.223T>C (p.Trp75Arg)	ACAN (W75R)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with early-onset osteoarthritis	GPathogenic
Select item 1328278	NM_001369268.1(ACAN):c.229C>T (p.Arg77Cys)	ACAN (R77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 446080	NM_001369268.1(ACAN):c.230G>A (p.Arg77His)	ACAN (R77H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2196536	NM_001369268.1(ACAN):c.238A>C (p.Lys80Gln)	ACAN (K80Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922409	NM_001369268.1(ACAN):c.239A>G (p.Lys80Arg)	ACAN (K80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993639	NM_001369268.1(ACAN):c.250G>T (p.Val84Leu)	ACAN (V84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975931	NM_001369268.1(ACAN):c.262G>A (p.Val88Met)	ACAN (V88M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Kimberley type	GUncertain significance
Select item 440744	NM_001369268.1(ACAN):c.273del (p.Arg93fs)	ACAN (R93fs)	Deletion (frameshift variant)	Short stature and advanced bone age	GPathogenic
Select item 2578193	NM_001369268.1(ACAN):c.274G>A (p.Gly92Arg)	ACAN (G92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904570	NM_001369268.1(ACAN):c.277C>T (p.Arg93Cys)	ACAN (R93C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2712368	NM_001369268.1(ACAN):c.278G>A (p.Arg93His)	ACAN (R93H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739429	NM_001369268.1(ACAN):c.279C>T (p.Arg93=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287983	NM_001369268.1(ACAN):c.280_336del (p.Val94_Ile112del)	ACAN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1373079	NM_001369268.1(ACAN):c.280G>A (p.Val94Met)	ACAN (V94M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180957	NM_001369268.1(ACAN):c.283C>T (p.Arg95Trp)	ACAN (R95W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1342158	NM_001369268.1(ACAN):c.293_315del (p.Ser98fs)	ACAN (S98fs)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 3013837	NM_001369268.1(ACAN):c.300T>C (p.Tyr100=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526221	NM_001369268.1(ACAN):c.301C>T (p.Gln101Ter)	ACAN (Q101*)	Single nucleotide variant (nonsense)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 1206411	NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu)	ACAN (D102E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2113400	NM_001369268.1(ACAN):c.318G>T (p.Leu106=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940846	NM_001369268.1(ACAN):c.324C>G (p.Asn108Lys)	ACAN (N108K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2103405	NM_001369268.1(ACAN):c.325T>A (p.Tyr109Asn)	ACAN (Y109N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2060660	NM_001369268.1(ACAN):c.329C>T (p.Pro110Leu)	ACAN (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888098	NM_001369268.1(ACAN):c.330G>C (p.Pro110=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747837	NM_001369268.1(ACAN):c.330G>A (p.Pro110=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058029	NM_001369268.1(ACAN):c.333C>T (p.Ala111=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703305	NM_001369268.1(ACAN):c.346G>C (p.Ala116Pro)	ACAN (A116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233562	NM_001369268.1(ACAN):c.358G>A (p.Val120Ile)	ACAN (V120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396226	NM_001369268.1(ACAN):c.358G>T (p.Val120Phe)	ACAN (V120F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3135175	NM_001369268.1(ACAN):c.361C>T (p.Gln121Ter)	ACAN (Q121*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2418373	NM_001369268.1(ACAN):c.370C>T (p.Arg124Cys)	ACAN (R124C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848360	NM_001369268.1(ACAN):c.376A>C (p.Asn126His)	ACAN (N126H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 12