PIRT[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 147149	GRCh38/hg38 17p13.1-12(chr17:10713492-11312542)x3	LOC121852923, LOC125177419 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2483579	NM_001101387.2(PIRT):c.406A>G (p.Thr136Ala)	PIRT (T136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461481	NM_001101387.2(PIRT):c.371C>T (p.Ser124Leu)	PIRT (S124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395448	NM_001101387.2(PIRT):c.343A>G (p.Lys115Glu)	PIRT (K115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213210	NM_001101387.2(PIRT):c.309G>C (p.Met103Ile)	PIRT (M103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406001	NM_001101387.2(PIRT):c.214A>G (p.Ile72Val)	PIRT (I72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213207	NM_001101387.2(PIRT):c.205G>A (p.Gly69Ser)	PIRT (G69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306712	NM_001101387.2(PIRT):c.160A>G (p.Lys54Glu)	PIRT (K54E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213206	NM_001101387.2(PIRT):c.128C>T (p.Thr43Ile)	PIRT (T43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306711	NM_001101387.2(PIRT):c.112G>A (p.Glu38Lys)	PIRT (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215519	NM_001101387.2(PIRT):c.63C>A (p.Asp21Glu)	PIRT (D21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213211	NM_001101387.2(PIRT):c.31G>A (p.Glu11Lys)	PIRT (E11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285492	NM_001101387.2(PIRT):c.23A>G (p.Lys8Arg)	PIRT (K8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386020	NM_001101387.2(PIRT):c.8T>G (p.Met3Arg)	PIRT (M3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 1807888	GRCh37/hg19 17p13.1-12(chr17:10517286-10814075)x3	ADPRM, MYH3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
Select item 815903	GRCh37/hg19 17p13.1-12(chr17:10656332-10730021)x1	PIRT	Copy number loss	not provided	GUncertain significance
Select item 688631	GRCh37/hg19 17p13.1-12(chr17:10604119-10744366)x1	ADPRM, PIRT +1 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 30