ClinVar for Gene (Select 5724) - ClinVar

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

Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311075	NM_000952.5(PTAFR):c.260A>G (p.Lys87Arg)	PTAFR (K87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220559	NM_000952.5(PTAFR):c.902G>A (p.Arg301His)	PTAFR (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220558	NM_000952.5(PTAFR):c.803A>T (p.His268Leu)	PTAFR (H268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220557	NM_000952.5(PTAFR):c.685C>T (p.Arg229Trp)	PTAFR (R229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220556	NM_000952.5(PTAFR):c.650C>T (p.Pro217Leu)	PTAFR (P217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220555	NM_000952.5(PTAFR):c.562C>T (p.His188Tyr)	PTAFR (H188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220554	NM_000952.5(PTAFR):c.413C>T (p.Ser138Phe)	PTAFR (S138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220553	NM_000952.5(PTAFR):c.362G>A (p.Arg121Gln)	PTAFR (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220552	NM_000952.5(PTAFR):c.1012A>G (p.Asn338Asp)	PTAFR (N338D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685399	GRCh37/hg19 1p35.3(chr1:28493687-28582447)x1	ATP5IF1, DNAJC8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2607387	NM_000952.5(PTAFR):c.988G>T (p.Val330Leu)	PTAFR (V330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508257	NM_000952.5(PTAFR):c.665G>A (p.Arg222His)	PTAFR (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487345	NM_000952.5(PTAFR):c.790G>T (p.Asp264Tyr)	PTAFR (D264Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458966	NM_000952.5(PTAFR):c.574G>A (p.Val192Met)	PTAFR (V192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377637	NM_000952.5(PTAFR):c.695G>T (p.Trp232Leu)	PTAFR (W232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372530	NM_000952.5(PTAFR):c.361C>T (p.Arg121Trp)	PTAFR (R121W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338607	NM_000952.5(PTAFR):c.487G>C (p.Asp163His)	PTAFR (D163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332955	NM_000952.5(PTAFR):c.707C>T (p.Thr236Met)	PTAFR (T236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323992	NM_000952.5(PTAFR):c.799T>C (p.Phe267Leu)	PTAFR (F267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298509	NM_000952.5(PTAFR):c.514C>T (p.Arg172Cys)	PTAFR (R172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296309	NM_000952.5(PTAFR):c.694T>C (p.Trp232Arg)	PTAFR (W232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
Select item 784941	NM_000952.5(PTAFR):c.820G>A (p.Ala274Thr)	PTAFR (A274T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 565083	GRCh37/hg19 1p35.3(chr1:28517625-28633254)x1	PTAFR, ATP5IF1 +2 more	Copy number loss	not provided	GUncertain significance
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 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 57753	GRCh38/hg38 1p35.3(chr1:27952842-28193956)x3	EYA3, LOC129388479 +13 more	Copy number gain	See cases	GUncertain significance

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: 34