Related gene-specific medical variations for Gene (Select 176) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2438824	NM_001369268.1(ACAN):c.2836_2892del (p.Gly946_Glu964del)	ACAN	Deletion (inframe_deletion +1 more)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +1 more	GUncertain significance
Select item 2438821	NM_001369268.1(ACAN):c.2902T>C (p.Ser968Pro)	ACAN (S968P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438820	NM_001369268.1(ACAN):c.389T>A (p.Val130Asp)	ACAN (V130D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992362	NM_001369268.1(ACAN):c.2002dup (p.Arg668fs)	ACAN (R668fs)	Duplication (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 1679571	NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala)	ACAN (P847A)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +2 more	GUncertain significance
Select item 1224465	NM_001369268.1(ACAN):c.2326del (p.Ser776fs)	ACAN (S776fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224450	NM_001369268.1(ACAN):c.7445C>G (p.Thr2482Arg)	ACAN (T2406R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224448	NM_001369268.1(ACAN):c.7440G>T (p.Lys2480Asn)	ACAN (K2404N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224429	NM_001369268.1(ACAN):c.5332C>T (p.Gln1778Ter)	ACAN (Q1778*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1224413	NM_001369268.1(ACAN):c.1190dup (p.Ile398fs)	ACAN (I398fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1224397	NM_001369268.1(ACAN):c.2403dup (p.Ser802fs)	ACAN (S802fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1224389	NM_001369268.1(ACAN):c.455G>A (p.Gly152Asp)	ACAN (G152D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224368	NM_001369268.1(ACAN):c.911A>C (p.Asp304Ala)	ACAN (D304A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224312	NM_001369268.1(ACAN):c.7426T>A (p.Phe2476Ile)	ACAN (F2400I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998051	NM_001369268.1(ACAN):c.1120_1123del (p.Gln373_Thr374insTer)	ACAN	Deletion (nonsense)	Osteochondritis dissecans	GLikely pathogenic
Select item 997996	NM_001369268.1(ACAN):c.1861A>T (p.Lys621Ter)	ACAN (K621*)	Single nucleotide variant (nonsense)	Osteochondritis dissecans	GPathogenic
Select item 997994	NM_001369268.1(ACAN):c.1880_1883dup (p.Asp629fs)	ACAN (D629fs)	Microsatellite (frameshift variant)	Osteochondritis dissecans	GPathogenic
Select item 986943	NM_001369268.1(ACAN):c.6534del (p.Thr2179fs)	ACAN (T2179fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 977404	NM_001369268.1(ACAN):c.2690G>A (p.Gly897Glu)	ACAN (G897E)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 445330	NM_001369268.1(ACAN):c.3010A>G (p.Thr1004Ala)	ACAN (T1004A)	Single nucleotide variant (missense variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26