25374[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
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 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 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 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 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 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 148089	GRCh38/hg38 1p31.1(chr1:69324212-70840573)x1	ANKRD13C, ANKRD13C-DT +25 more	Copy number loss	See cases	GUncertain significance
Select item 3123113	NM_030816.5(ANKRD13C):c.1556A>C (p.Glu519Ala)	ANKRD13C (E519A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364064	NM_030816.5(ANKRD13C):c.1417G>A (p.Val473Ile)	ANKRD13C (V473I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212928	NM_030816.5(ANKRD13C):c.1331A>C (p.Glu444Ala)	ANKRD13C (E444A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123102	NM_030816.5(ANKRD13C):c.1296A>G (p.Lys432=)	ANKRD13C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3123099	NM_030816.5(ANKRD13C):c.1195A>G (p.Ile399Val)	ANKRD13C (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123141	NM_030816.5(ANKRD13C):c.918T>G (p.His306Gln)	ANKRD13C (H306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123138	NM_030816.5(ANKRD13C):c.844A>T (p.Asn282Tyr)	ANKRD13C (N282Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620209	NM_030816.5(ANKRD13C):c.545C>T (p.Ala182Val)	ANKRD13C (A182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296398	NM_030816.5(ANKRD13C):c.407A>G (p.Asn136Ser)	ANKRD13C, LOC126805756 (N136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270556	NM_030816.5(ANKRD13C):c.340T>C (p.Tyr114His)	ANKRD13C, LOC126805756 (Y114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296411	NM_030816.5(ANKRD13C):c.310G>T (p.Val104Phe)	ANKRD13C, LOC126805756 (V104F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485808	NM_030816.5(ANKRD13C):c.253G>T (p.Val85Leu)	ANKRD13C, LOC126805756 (V85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293583	NM_030816.5(ANKRD13C):c.238C>G (p.Leu80Val)	ANKRD13C, LOC126805756 (L80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296404	NM_030816.5(ANKRD13C):c.229G>A (p.Ala77Thr)	LOC126805756, ANKRD13C (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296417	NM_030816.5(ANKRD13C):c.226C>A (p.Pro76Thr)	ANKRD13C, LOC126805756 (P76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462824	NM_030816.5(ANKRD13C):c.215C>T (p.Pro72Leu)	ANKRD13C, LOC126805756 (P72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454738	NM_030816.5(ANKRD13C):c.212A>G (p.Asn71Ser)	ANKRD13C, LOC126805756 (N71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123117	NM_030816.5(ANKRD13C):c.173A>G (p.His58Arg)	ANKRD13C, LOC126805756 (H58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296400	NM_030816.5(ANKRD13C):c.134A>G (p.Lys45Arg)	ANKRD13C, LOC126805756 (K45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208621	NM_030816.5(ANKRD13C):c.76G>A (p.Gly26Arg)	ANKRD13C, LOC126805756 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512960	NM_030816.5(ANKRD13C):c.58G>C (p.Gly20Arg)	ANKRD13C, LOC126805756 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809428	GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1	ANKRD13C, CTH +8 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814093	GRCh37/hg19 1p31.1(chr1:70727412-71030414)x4	HHLA3, CTH +1 more	Copy number gain	not provided	GLikely benign
Select item 814092	GRCh37/hg19 1p31.1(chr1:70121864-70894764)x3	HHLA3, LRRC7 +4 more	Copy number gain	not provided	GLikely benign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
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 565109	GRCh37/hg19 1p31.1(chr1:70736553-71030414)x3	ANKRD13C, CTH +1 more	Copy number gain	not provided	GLikely benign
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

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Items: 47