16177[HGNC] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 151392	GRCh38/hg38 20q11.21(chr20:33002915-33065173)x3	BPIFB2, BPIFB3 +2 more	Copy number gain	See cases	GBenign
Select item 2652260	NM_025227.3(BPIFB2):c.50T>A (p.Val17Glu)	BPIFB2 (V17E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3134836	NM_025227.3(BPIFB2):c.55G>A (p.Gly19Ser)	BPIFB2 (G19S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134837	NM_025227.3(BPIFB2):c.62C>T (p.Ser21Phe)	BPIFB2 (S21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404377	NM_025227.3(BPIFB2):c.83G>A (p.Arg28Gln)	BPIFB2 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302268	NM_025227.3(BPIFB2):c.139C>T (p.Arg47Trp)	BPIFB2 (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134831	NM_025227.3(BPIFB2):c.140G>A (p.Arg47Gln)	BPIFB2 (R47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284095	NM_025227.3(BPIFB2):c.142G>T (p.Ala48Ser)	BPIFB2 (A48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399495	NM_025227.3(BPIFB2):c.177G>T (p.Trp59Cys)	BPIFB2 (W59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261377	NM_025227.3(BPIFB2):c.188C>A (p.Ala63Glu)	BPIFB2 (A63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134832	NM_025227.3(BPIFB2):c.232C>T (p.Arg78Cys)	BPIFB2 (R78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355870	NM_025227.3(BPIFB2):c.337C>T (p.Pro113Ser)	BPIFB2 (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551380	NM_025227.3(BPIFB2):c.361C>T (p.Arg121Cys)	BPIFB2 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134834	NM_025227.3(BPIFB2):c.398G>A (p.Ser133Asn)	BPIFB2 (S133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134835	NM_025227.3(BPIFB2):c.430G>A (p.Ala144Thr)	BPIFB2 (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612411	NM_025227.3(BPIFB2):c.510T>G (p.Ser170Arg)	BPIFB2 (S170R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523336	NM_025227.3(BPIFB2):c.595C>A (p.Pro199Thr)	BPIFB2 (P199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595155	NM_025227.3(BPIFB2):c.643A>G (p.Ser215Gly)	BPIFB2 (S215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215154	NM_025227.3(BPIFB2):c.710C>T (p.Thr237Met)	BPIFB2 (T237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370995	NM_025227.3(BPIFB2):c.751G>A (p.Glu251Lys)	BPIFB2 (E251K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134838	NM_025227.3(BPIFB2):c.754G>C (p.Gly252Arg)	BPIFB2 (G252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228227	NM_025227.3(BPIFB2):c.779C>T (p.Ser260Phe)	BPIFB2 (S260F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134839	NM_025227.3(BPIFB2):c.812T>C (p.Leu271Pro)	BPIFB2 (L271P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376128	NM_025227.3(BPIFB2):c.820G>A (p.Ala274Thr)	BPIFB2 (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134840	NM_025227.3(BPIFB2):c.934A>G (p.Met312Val)	BPIFB2 (M312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342054	NM_025227.3(BPIFB2):c.1189A>T (p.Ile397Phe)	BPIFB2 (I397F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399011	NM_025227.3(BPIFB2):c.1259C>T (p.Ala420Val)	BPIFB2 (A420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134829	NM_025227.3(BPIFB2):c.1289G>C (p.Gly430Ala)	BPIFB2 (G430A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134830	NM_025227.3(BPIFB2):c.1298A>G (p.Asn433Ser)	BPIFB2 (N433S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261375	NM_025227.3(BPIFB2):c.1309G>T (p.Val437Phe)	BPIFB2 (V437F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 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: 48