66[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 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 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 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	AAAS, ABCD2 +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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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	AGAP2, ARF3 +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

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Items: 52