ClinVar for Gene (Select 176) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384001	NM_001369268.1(ACAN):c.6946+1G>T	ACAN	Single nucleotide variant (splice donor variant +1 more)	Spondyloepiphyseal dysplasia	GLikely pathogenic
Select item 3384000	NM_001369268.1(ACAN):c.1513del (p.Ala505fs)	ACAN (A505fs)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia	GPathogenic
Select item 3383610	NM_001369268.1(ACAN):c.4403G>C (p.Ser1468Thr)	ACAN (S1468T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383218	NM_001369268.1(ACAN):c.2266+1G>T	ACAN	Single nucleotide variant (splice donor variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 3382910	NM_001369268.1(ACAN):c.2858dup (p.Asp953fs)	ACAN (D953fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia, Kimberley type +2 more	GLikely pathogenic
Select item 3376247	NM_001369268.1(ACAN):c.818G>T (p.Cys273Phe)	ACAN (C273F)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type	GUncertain significance
Select item 3376138	NM_001369268.1(ACAN):c.1496_1531dup (p.Pro510_Glu511insAlaCysLeuArgThrGlyAlaValIleAlaSerPro)	ACAN	Duplication	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 3375253	NM_001369268.1(ACAN):c.6450C>T (p.Ser2150=)	ACAN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3374991	NM_001369268.1(ACAN):c.2043T>C (p.Pro681=)	ACAN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3373101	NM_001369268.1(ACAN):c.7471G>C (p.Val2491Leu)	ACAN (V2415L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372550	NM_001369268.1(ACAN):c.2866G>A (p.Gly956Arg)	ACAN (G956R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367894	NM_001369268.1(ACAN):c.7426T>G (p.Phe2476Val)	ACAN (F2400V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367102	NM_001369268.1(ACAN):c.7250T>G (p.Leu2417Arg)	ACAN (L2341R +2 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type	GUncertain significance
Select item 3367101	NM_001369268.1(ACAN):c.7678C>T (p.Arg2560Trp)	ACAN (R2423W +3 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type	GUncertain significance
Select item 3366669	NM_001369268.1(ACAN):c.5900C>T (p.Ala1967Val)	ACAN (A1967V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366541	NM_001369268.1(ACAN):c.2686T>A (p.Ser896Thr)	ACAN (S896T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3360070	NM_001369268.1(ACAN):c.6099A>C (p.Glu2033Asp)	ACAN (E2033D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353379	NM_001369268.1(ACAN):c.629G>A (p.Arg210Lys)	ACAN (R210K)	Single nucleotide variant (missense variant)	ACAN-related disorder	GUncertain significance
Select item 3351897	NM_001369268.1(ACAN):c.1289C>T (p.Ala430Val)	ACAN (A430V)	Single nucleotide variant (missense variant)	ACAN-related disorder	GUncertain significance
Select item 3348440	NM_001369268.1(ACAN):c.6837dup (p.Ala2280fs)	ACAN (A2280fs)	Duplication (frameshift variant +1 more)	ACAN-related disorder	GLikely pathogenic
Select item 3347355	NM_001369268.1(ACAN):c.2207C>G (p.Pro736Arg)	ACAN (P736R)	Single nucleotide variant (missense variant)	ACAN-related disorder	GUncertain significance
Select item 3342537	NM_001369268.1(ACAN):c.7455C>A (p.Cys2485Ter)	ACAN (C2409* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3342274	NM_001369268.1(ACAN):c.2112dup (p.Val705fs)	ACAN (V705fs)	Duplication (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 3339590	NM_001369268.1(ACAN):c.4523_4525delinsCAT (p.Glu1508_Leu1509delinsAlaPhe)	ACAN	Indel (missense variant)	not specified	GLikely benign
Select item 3339427	NM_001369268.1(ACAN):c.6723C>T (p.Leu2241=)	ACAN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3338233	NM_001369268.1(ACAN):c.2972A>G (p.Asp991Gly)	ACAN (D991G)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GBenign
Select item 3338044	NM_001369268.1(ACAN):c.2536_2537delinsA (p.Pro846fs)	ACAN (P846fs)	Indel (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 3337781	NM_001369268.1(ACAN):c.7147G>T (p.Glu2383Ter)	ACAN (E2307* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3337780	NM_001369268.1(ACAN):c.1874del (p.Gly625fs)	ACAN (G625fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337779	NM_001369268.1(ACAN):c.757+2T>C	ACAN	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3335964	NM_001369268.1(ACAN):c.2509G>C (p.Ala837Pro)	ACAN (A837P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261013	NM_001369268.1(ACAN):c.2990C>T (p.Ser997Phe)	ACAN (S997F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261006	NM_001369268.1(ACAN):c.1218G>T (p.Glu406Asp)	ACAN (E406D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3261004	NM_001369268.1(ACAN):c.3002T>C (p.Leu1001Pro)	ACAN (L1001P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3261001	NM_001369268.1(ACAN):c.5623A>C (p.Ser1875Arg)	ACAN (S1875R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261000	NM_001369268.1(ACAN):c.4576A>T (p.Ser1526Cys)	ACAN (S1526C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260999	NM_001369268.1(ACAN):c.973G>C (p.Val325Leu)	ACAN (V325L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260996	NM_001369268.1(ACAN):c.5663C>T (p.Thr1888Ile)	ACAN (T1888I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260995	NM_001369268.1(ACAN):c.6232G>T (p.Asp2078Tyr)	ACAN (D2078Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260994	NM_001369268.1(ACAN):c.7112G>A (p.Arg2371His)	ACAN (R2333H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260989	NM_001369268.1(ACAN):c.4761T>G (p.Ser1587Arg)	ACAN (S1587R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260988	NM_001369268.1(ACAN):c.5624G>A (p.Ser1875Asn)	ACAN (S1875N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243883	NC_000015.9:g.(?_89373457)_(89382130_?)del	ACAN	Deletion	not provided	GPathogenic
Select item 3243882	NC_000015.9:g.(?_89379429)_(89417712_?)dup	ACAN	Duplication	not provided	GUncertain significance
Select item 3243881	NC_000015.9:g.(?_89384951)_(89417712_?)del	ACAN	Deletion	not provided	GPathogenic
Select item 3243880	NC_000015.9:g.(?_89379429)_(89385118_?)del	ACAN	Deletion	not provided	GPathogenic
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3238913	NM_001369268.1(ACAN):c.5756C>T (p.Ser1919Leu)	ACAN (S1919L)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3235896	NM_001369268.1(ACAN):c.6993C>A (p.Cys2331Ter)	ACAN (C2293* +1 more)	Single nucleotide variant (nonsense +1 more)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +1 more	GLikely pathogenic
Select item 3234254	NM_001369268.1(ACAN):c.3009C>A (p.Thr1003=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3234252	NM_001369268.1(ACAN):c.2980G>A (p.Gly994Arg)	ACAN (G994R)	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 3135451	NM_001369268.1(ACAN):c.7681A>G (p.Arg2561Gly)	ACAN (R2424G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135448	NM_001369268.1(ACAN):c.7660C>T (p.Arg2554Trp)	ACAN (R2554W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135389	NM_001369268.1(ACAN):c.6920G>A (p.Gly2307Asp)	ACAN (G2307D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135382	NM_001369268.1(ACAN):c.6866G>C (p.Gly2289Ala)	ACAN (G2289A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135375	NM_001369268.1(ACAN):c.6754G>A (p.Glu2252Lys)	ACAN (E2252K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135360	NM_001369268.1(ACAN):c.6545C>G (p.Pro2182Arg)	ACAN (P2182R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135357	NM_001369268.1(ACAN):c.6538G>C (p.Glu2180Gln)	ACAN (E2180Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135353	NM_001369268.1(ACAN):c.6494C>T (p.Pro2165Leu)	ACAN (P2165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135336	NM_001369268.1(ACAN):c.6367G>T (p.Asp2123Tyr)	ACAN (D2123Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135324	NM_001369268.1(ACAN):c.6208A>C (p.Ser2070Arg)	ACAN (S2070R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135318	NM_001369268.1(ACAN):c.6200T>C (p.Phe2067Ser)	ACAN (F2067S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135301	NM_001369268.1(ACAN):c.5734G>A (p.Glu1912Lys)	ACAN (E1912K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135279	NM_001369268.1(ACAN):c.5494G>T (p.Val1832Leu)	ACAN (V1832L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135275	NM_001369268.1(ACAN):c.5492T>A (p.Phe1831Tyr)	ACAN (F1831Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135252	NM_001369268.1(ACAN):c.4999G>C (p.Val1667Leu)	ACAN (V1667L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135240	NM_001369268.1(ACAN):c.4910A>T (p.Asp1637Val)	ACAN (D1637V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135232	NM_001369268.1(ACAN):c.4877C>T (p.Pro1626Leu)	ACAN (P1626L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135220	NM_001369268.1(ACAN):c.4594G>C (p.Glu1532Gln)	ACAN (E1532Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135213	NM_001369268.1(ACAN):c.4445C>A (p.Ser1482Tyr)	ACAN (S1482Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135208	NM_001369268.1(ACAN):c.4388C>G (p.Ala1463Gly)	ACAN (A1463G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135206	NM_001369268.1(ACAN):c.4384T>C (p.Ser1462Pro)	ACAN (S1462P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135205	NM_001369268.1(ACAN):c.4378T>G (p.Ser1460Ala)	ACAN (S1460A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3135161	NM_001369268.1(ACAN):c.3008C>T (p.Thr1003Ile)	ACAN (T1003I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135156	NM_001369268.1(ACAN):c.3007A>G (p.Thr1003Ala)	ACAN (T1003A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135153	NM_001369268.1(ACAN):c.3004G>C (p.Glu1002Gln)	ACAN (E1002Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135150	NM_001369268.1(ACAN):c.2999T>C (p.Val1000Ala)	ACAN (V1000A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135143	NM_001369268.1(ACAN):c.2984T>C (p.Leu995Pro)	ACAN (L995P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135141	NM_001369268.1(ACAN):c.2979C>A (p.Ser993Arg)	ACAN (S993R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135137	NM_001369268.1(ACAN):c.2974A>C (p.Ile992Leu)	ACAN (I992L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135131	NM_001369268.1(ACAN):c.2941G>A (p.Val981Ile)	ACAN (V981I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135129	NM_001369268.1(ACAN):c.2936G>T (p.Gly979Val)	ACAN (G979V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135114	NM_001369268.1(ACAN):c.2798C>T (p.Thr933Met)	ACAN (T933M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135111	NM_001369268.1(ACAN):c.2743del (p.Glu915fs)	ACAN (E915fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3135106	NM_001369268.1(ACAN):c.2674A>G (p.Ser892Gly)	ACAN (S892G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135086	NM_001369268.1(ACAN):c.2512T>C (p.Ser838Pro)	ACAN (S838P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135079	NM_001369268.1(ACAN):c.2396C>T (p.Pro799Leu)	ACAN (P799L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135076	NM_001369268.1(ACAN):c.2341C>T (p.Pro781Ser)	ACAN (P781S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135004	NM_001369268.1(ACAN):c.1562A>G (p.Tyr521Cys)	ACAN (Y521C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134984	NM_001369268.1(ACAN):c.1288G>T (p.Ala430Ser)	ACAN (A430S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068959	NM_001369268.1(ACAN):c.7192A>C (p.Thr2398Pro)	ACAN (T2322P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068958	NM_001369268.1(ACAN):c.5627G>A (p.Gly1876Glu)	ACAN (G1876E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065588	NM_001369268.1(ACAN):c.4787TGG[1] (p.Val1597del)	ACAN (V1597del)	Microsatellite (inframe_deletion)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 3061320	NM_001369268.1(ACAN):c.7247G>A (p.Gly2416Asp)	ACAN (G2340D +2 more)	Single nucleotide variant (missense variant)	ACAN-related disorder	GLikely pathogenic
Select item 3038999	NM_001369268.1(ACAN):c.2262G>A (p.Leu754=)	ACAN	Single nucleotide variant (synonymous variant)	ACAN-related disorder	GLikely benign
Select item 3030075	NM_001369268.1(ACAN):c.936del (p.Lys313fs)	ACAN (K313fs)	Deletion (frameshift variant)	ACAN-related disorder	GLikely pathogenic
Select item 3025694	NM_001369268.1(ACAN):c.2970G>A (p.Glu990=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023883	NM_001369268.1(ACAN):c.2108C>T (p.Thr703Ile)	ACAN (T703I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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