ABCD2[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 3129114	NM_005164.4(ABCD2):c.2209G>A (p.Asp737Asn)	ABCD2 (D695N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129110	NM_005164.4(ABCD2):c.2140C>A (p.Gln714Lys)	ABCD2 (Q289K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208696	NM_005164.4(ABCD2):c.2139G>T (p.Met713Ile)	ABCD2 (M288I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129098	NM_005164.4(ABCD2):c.2051G>A (p.Arg684His)	ABCD2 (R642H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129095	NM_005164.4(ABCD2):c.1964G>C (p.Gly655Ala)	ABCD2 (G230A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336810	NM_005164.4(ABCD2):c.1927G>A (p.Val643Ile)	ABCD2 (V643I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559119	NM_005164.4(ABCD2):c.1878-18G>C	ABCD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2482728	NM_005164.4(ABCD2):c.1759G>A (p.Val587Ile)	ABCD2 (V587I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332932	NM_005164.4(ABCD2):c.1748T>C (p.Ile583Thr)	ABCD2 (I484T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301033	NM_005164.4(ABCD2):c.1744C>T (p.Arg582Cys)	ABCD2 (R483C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309182	NM_005164.4(ABCD2):c.1741G>A (p.Glu581Lys)	ABCD2 (E482K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306997	NM_005164.4(ABCD2):c.1720G>A (p.Gly574Ser)	ABCD2 (G149S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520289	NM_005164.4(ABCD2):c.1668T>G (p.Ser556Arg)	ABCD2 (S131R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592654	NM_005164.4(ABCD2):c.1488G>T (p.Arg496Ser)	ABCD2 (R496S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215629	NM_005164.4(ABCD2):c.1475T>C (p.Val492Ala)	ABCD2 (V393A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513347	NM_005164.4(ABCD2):c.1421T>C (p.Val474Ala)	ABCD2 (V474A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249322	NM_005164.4(ABCD2):c.1416T>G (p.Ile472Met)	ABCD2 (I47M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307093	NM_005164.4(ABCD2):c.1370T>C (p.Val457Ala)	ABCD2 (V32A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595025	NM_005164.4(ABCD2):c.1327G>A (p.Val443Ile)	ABCD2 (V344I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129057	NM_005164.4(ABCD2):c.1180A>C (p.Asn394His)	ABCD2 (N394H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604991	NM_005164.4(ABCD2):c.1154G>A (p.Arg385Gln)	ABCD2 (R385Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612473	NM_005164.4(ABCD2):c.1059C>A (p.Ser353Arg)	ABCD2 (S353R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561390	NM_005164.4(ABCD2):c.1015T>C (p.Trp339Arg)	ABCD2 (W339R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227651	NM_005164.4(ABCD2):c.1009C>T (p.Arg337Cys)	ABCD2 (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332175	NM_005164.4(ABCD2):c.880T>C (p.Tyr294His)	ABCD2 (Y294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129133	NM_005164.4(ABCD2):c.866A>G (p.Lys289Arg)	ABCD2 (K289R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219365	NM_005164.4(ABCD2):c.557C>T (p.Thr186Ile)	ABCD2 (T186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284761	NM_005164.4(ABCD2):c.533G>A (p.Arg178His)	ABCD2 (R178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381310	NM_005164.4(ABCD2):c.532C>T (p.Arg178Cys)	ABCD2 (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129118	NM_005164.4(ABCD2):c.508A>G (p.Lys170Glu)	ABCD2 (K170E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 559120	NM_005164.4(ABCD2):c.292A>G (p.Lys98Glu)	ABCD2 (K98E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3129100	NM_005164.4(ABCD2):c.208G>A (p.Glu70Lys)	ABCD2 (E70K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129061	NM_005164.4(ABCD2):c.126G>C (p.Lys42Asn)	ABCD2 (K42N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2684670	GRCh37/hg19 12q12(chr12:39854510-40160131)x3	ABCD2, REDIC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809396	GRCh37/hg19 12q12(chr12:39560669-43285298)x1	ABCD2, C12orf40 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1808397	GRCh37/hg19 12q12(chr12:39447728-40418470)x3	ABCD2, C12orf40 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808114	GRCh37/hg19 12q12(chr12:39792367-39965548)x1	ABCD2, KIF21A	Copy number loss	not provided	GUncertain significance
Select item 1527704	GRCh37/hg19 12q12(chr12:39598809-41141181)	ABCD2, C12orf40 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979960	GRCh37/hg19 12q12(chr12:39078754-40577696)x4	CPNE8, C12orf40 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815519	GRCh37/hg19 12q12(chr12:39580744-42470754)x3	CNTN1, ABCD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687619	GRCh37/hg19 12q12(chr12:39577315-40582797)x1	ABCD2, C12orf40 +2 more	Copy number loss	not provided	GPathogenic
Select item 563977	GRCh37/hg19 12q12(chr12:38207168-40145174)x1	C12orf40, ABCD2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 563955	GRCh37/hg19 12q12(chr12:39452850-40084260)x3	KIF21A, C12orf40 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441613	GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3	ALG10B, CNTN1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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: 54