TRNAU1AP[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 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	LOC112577575, LOC112577576 +24 more	Copy number loss	See cases	GUncertain significance
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 3183149	NM_017846.5(TRNAU1AP):c.11G>A (p.Ser4Asn)	LOC112577576, TRNAU1AP (S4N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510343	NM_017846.5(TRNAU1AP):c.122C>A (p.Thr41Asn)	TRNAU1AP (T41N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183150	NM_017846.5(TRNAU1AP):c.206C>A (p.Pro69His)	TRNAU1AP (P69H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237529	NM_017846.5(TRNAU1AP):c.248A>T (p.Tyr83Phe)	TRNAU1AP (Y83F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329126	NM_017846.5(TRNAU1AP):c.287A>T (p.Tyr96Phe)	TRNAU1AP (Y96F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183151	NM_017846.5(TRNAU1AP):c.361C>G (p.Pro121Ala)	TRNAU1AP (P121A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183152	NM_017846.5(TRNAU1AP):c.413G>A (p.Gly138Asp)	TRNAU1AP (G138D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595965	NM_017846.5(TRNAU1AP):c.514G>A (p.Val172Met)	TRNAU1AP (V172M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183153	NM_017846.5(TRNAU1AP):c.698A>T (p.Tyr233Phe)	TRNAU1AP (Y233F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620279	NM_017846.5(TRNAU1AP):c.754G>A (p.Glu252Lys)	TRNAU1AP (E252K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493473	NM_017846.5(TRNAU1AP):c.762C>A (p.Asn254Lys)	TRNAU1AP (N254K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329128	NM_017846.5(TRNAU1AP):c.764A>G (p.Lys255Arg)	TRNAU1AP (K255R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360743	NM_017846.5(TRNAU1AP):c.772A>G (p.Met258Val)	TRNAU1AP (M258V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329127	NM_017846.5(TRNAU1AP):c.773T>C (p.Met258Thr)	TRNAU1AP (M258T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601982	NM_017846.5(TRNAU1AP):c.799G>A (p.Ala267Thr)	TRNAU1AP (A267T)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 394465	GRCh37/hg19 1p35.3(chr1:28904254-28907123)x3	TRNAU1AP	Copy number gain	See cases	GBenign
Select item 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 31