ClinVar for Gene (Select 5724) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	LOC129929105, LOC129929106 +2149 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	ANGPTL7, C1orf127 +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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	LOC129929733, LOC129929734 +1145 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

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Links from Gene

Items: 33