25951[HGNC] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 3274982	NM_203437.4(AFTPH):c.53A>G (p.Asn18Ser)	AFTPH (N18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598659	NM_203437.4(AFTPH):c.59C>G (p.Ala20Gly)	AFTPH (A20G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274946	NM_203437.4(AFTPH):c.66T>A (p.Asp22Glu)	AFTPH (D22E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301058	NM_203437.4(AFTPH):c.77A>C (p.Asp26Ala)	AFTPH (D26A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237991	NM_203437.4(AFTPH):c.160C>A (p.Arg54Ser)	AFTPH (R54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527929	NM_203437.4(AFTPH):c.173A>G (p.Glu58Gly)	AFTPH (E58G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093432	NM_203437.4(AFTPH):c.206A>G (p.His69Arg)	AFTPH (H69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274934	NM_203437.4(AFTPH):c.272A>G (p.Asp91Gly)	AFTPH (D91G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291860	NM_203437.4(AFTPH):c.488A>T (p.His163Leu)	AFTPH (H163L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310875	NM_203437.4(AFTPH):c.511T>C (p.Cys171Arg)	AFTPH (C171R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274957	NM_203437.4(AFTPH):c.520G>A (p.Glu174Lys)	AFTPH (E174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514613	NM_203437.4(AFTPH):c.542T>G (p.Ile181Ser)	AFTPH (I181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411030	NM_203437.4(AFTPH):c.544C>G (p.Leu182Val)	AFTPH (L182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093486	NM_203437.4(AFTPH):c.625C>T (p.Arg209Trp)	AFTPH (R209W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2398696	NM_203437.4(AFTPH):c.659A>G (p.Asn220Ser)	AFTPH (N220S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355301	NM_203437.4(AFTPH):c.677G>A (p.Ser226Asn)	AFTPH (S226N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274971	NM_203437.4(AFTPH):c.706A>G (p.Thr236Ala)	AFTPH (T236A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093498	NM_203437.4(AFTPH):c.776T>C (p.Leu259Pro)	AFTPH (L259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387004	NM_203437.4(AFTPH):c.785G>A (p.Arg262Gln)	AFTPH (R262Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2220486	NM_203437.4(AFTPH):c.829A>G (p.Lys277Glu)	AFTPH (K277E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276552	NM_203437.4(AFTPH):c.834A>C (p.Glu278Asp)	AFTPH (E278D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274966	NM_203437.4(AFTPH):c.997A>G (p.Lys333Glu)	AFTPH (K333E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093372	NM_203437.4(AFTPH):c.1063G>A (p.Glu355Lys)	AFTPH (E355K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395873	NM_203437.4(AFTPH):c.1121A>G (p.Lys374Arg)	AFTPH (K374R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093377	NM_203437.4(AFTPH):c.1124C>A (p.Thr375Asn)	AFTPH (T375N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391672	NM_203437.4(AFTPH):c.1162A>G (p.Arg388Gly)	AFTPH (R388G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285683	NM_203437.4(AFTPH):c.1166A>G (p.Lys389Arg)	AFTPH (K389R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252472	NM_203437.4(AFTPH):c.1182A>C (p.Gln394His)	AFTPH (Q394H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555555	NM_203437.4(AFTPH):c.1251T>G (p.Ser417Arg)	AFTPH (S417R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255268	NM_203437.4(AFTPH):c.1253G>C (p.Ser418Thr)	AFTPH (S418T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093393	NM_203437.4(AFTPH):c.1283A>G (p.Asn428Ser)	AFTPH (N428S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275696	NM_203437.4(AFTPH):c.1434T>G (p.Phe478Leu)	AFTPH (F478L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474435	NM_203437.4(AFTPH):c.1577C>G (p.Ala526Gly)	AFTPH (A526G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093400	NM_203437.4(AFTPH):c.1598A>G (p.Glu533Gly)	AFTPH (E533G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302647	NM_203437.4(AFTPH):c.1628C>G (p.Pro543Arg)	AFTPH (P543R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274926	NM_203437.4(AFTPH):c.1630A>G (p.Asn544Asp)	AFTPH (N544D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606280	NM_203437.4(AFTPH):c.1687T>G (p.Ser563Ala)	AFTPH (S563A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093407	NM_203437.4(AFTPH):c.1726G>C (p.Glu576Gln)	AFTPH (E576Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331694	NM_203437.4(AFTPH):c.1759G>A (p.Ala587Thr)	AFTPH (A587T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093417	NM_203437.4(AFTPH):c.1835T>C (p.Ile612Thr)	AFTPH (I612T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093419	NM_203437.4(AFTPH):c.1837G>C (p.Asp613His)	AFTPH (D613H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093423	NM_203437.4(AFTPH):c.1847G>C (p.Gly616Ala)	AFTPH (G616A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651002	NM_203437.4(AFTPH):c.1858A>G (p.Thr620Ala)	AFTPH (T620A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2291281	NM_203437.4(AFTPH):c.1859C>T (p.Thr620Met)	AFTPH (T620M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3093426	NM_203437.4(AFTPH):c.1958A>T (p.Glu653Val)	AFTPH (E653V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2282841	NM_203437.4(AFTPH):c.2020T>G (p.Ser674Ala)	AFTPH (S674A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093434	NM_203437.4(AFTPH):c.2143A>G (p.Arg715Gly)	AFTPH (R715G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253869	NM_203437.4(AFTPH):c.2180T>A (p.Leu727His)	AFTPH (L727H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378022	NM_203437.4(AFTPH):c.2204C>T (p.Thr735Ile)	AFTPH (T735I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312206	NM_203437.4(AFTPH):c.2222C>T (p.Thr741Met)	AFTPH (T741M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227240	NM_203437.4(AFTPH):c.2233A>C (p.Lys745Gln)	AFTPH (K745Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093448	NM_203437.4(AFTPH):c.2242G>T (p.Val748Phe)	AFTPH (V748F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093450	NM_203437.4(AFTPH):c.2246T>C (p.Ile749Thr)	AFTPH (I749T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093452	NM_203437.4(AFTPH):c.2500G>A (p.Val834Met)	AFTPH (V793M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334077	NM_203437.4(AFTPH):c.2516C>T (p.Ser839Phe)	AFTPH (S839F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602590	NM_203437.4(AFTPH):c.2525G>C (p.Ser842Thr)	AFTPH (S801T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093465	NM_203437.4(AFTPH):c.2537C>G (p.Pro846Arg)	AFTPH (P805R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 2389307	NM_203437.4(AFTPH):c.2701A>G (p.Ile901Val)	AFTPH (I790V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614780	NM_203437.4(AFTPH):c.2768C>T (p.Thr923Met)	AFTPH (T882M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557909	NM_203437.4(AFTPH):c.2782A>G (p.Thr928Ala)	AFTPH (T887A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526796	GRCh37/hg19 2p14(chr2:64103740-64802404)	AFTPH, LGALSL +3 more	Copy number gain	not specified	GUncertain significance
Select item 687379	GRCh37/hg19 2p15-14(chr2:63536353-65793944)x1	ACTR2, AFTPH +11 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 74