TAF12[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
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 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 148584	GRCh38/hg38 1p35.3(chr1:28298657-28634562)x1	TAF12, TRNAU1AP +24 more	Copy number loss	See cases	GUncertain significance
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 2270534	NM_005644.4(TAF12):c.467G>A (p.Arg156Gln)	TAF12 (R156Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223307	NM_005644.4(TAF12):c.433A>G (p.Thr145Ala)	TAF12 (T197A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246406	NM_005644.4(TAF12):c.113T>C (p.Val38Ala)	TAF12 (V38A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329753	NM_005644.4(TAF12):c.101G>A (p.Ser34Asn)	TAF12 (S86N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395385	GRCh37/hg19 1p35.3(chr1:28891341-28969495)x3	RAB42, TAF12 +1 more	Copy number gain	See cases	GLikely benign
Select item 395120	GRCh37/hg19 1p35.3(chr1:28666901-28929761)x3	PHACTR4, RAB42 +5 more	Copy number gain	See cases	GUncertain significance
Select item 394932	GRCh37/hg19 1p35.3(chr1:28891341-28939710)x3	RAB42, TAF12 +1 more	Copy number gain	See cases	GLikely benign
Select item 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance