ClinVar for Gene (Select 205) - ClinVar

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

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279904	NM_013410.4(AK4):c.590C>T (p.Thr197Met)	AK4 (T197M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279895	NM_013410.4(AK4):c.638A>G (p.Lys213Arg)	AK4 (K213R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279884	NM_013410.4(AK4):c.373C>T (p.Arg125Cys)	AK4 (R125C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3103439	NM_013410.4(AK4):c.76G>T (p.Ala26Ser)	AK4 (A26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103420	NM_013410.4(AK4):c.451G>A (p.Val151Ile)	AK4 (V151I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103413	NM_013410.4(AK4):c.376C>T (p.Arg126Cys)	AK4 (R126C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621791	NM_013410.4(AK4):c.639G>T (p.Lys213Asn)	AK4 (K161N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606216	NM_013410.4(AK4):c.242G>A (p.Arg81His)	AK4 (R29H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597550	NM_013410.4(AK4):c.165G>T (p.Lys55Asn)	AK4 (K55N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543380	NM_013410.4(AK4):c.425C>T (p.Pro142Leu)	AK4 (P90L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481643	NM_013410.4(AK4):c.167A>G (p.Gln56Arg)	AK4 (Q4R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 2376892	NM_013410.4(AK4):c.280T>G (p.Leu94Val)	AK4 (L42V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350764	NM_013410.4(AK4):c.212G>A (p.Arg71His)	AK4 (R71H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323074	NM_013410.4(AK4):c.217A>G (p.Met73Val)	AK4 (M73V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270978	NM_013410.4(AK4):c.71G>A (p.Arg24Lys)	AK4 (R24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 687150	GRCh37/hg19 1p31.3(chr1:65673325-65837730)x3	AK4, DNAJC6	Copy number gain	not provided	GUncertain significance
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565107	GRCh37/hg19 1p31.3(chr1:65332710-65617480)x3	MIR101-1, AK4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 565106	GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	SGIP1, JAK1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	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

Links from Gene

Items: 41