TP53TG3B[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 147205	GRCh38/hg38 16p11.2(chr16:31894396-33495702)x1	IGHV3OR16-8, LOC105369266 +8 more	Copy number loss	See cases	GBenign
Select item 146967	GRCh38/hg38 16p11.2(chr16:31943785-34048144)x1	IGHV3OR16-17, IGHV3OR16-8 +9 more	Copy number loss	See cases	GBenign
Select item 146938	GRCh38/hg38 16p11.2(chr16:31974836-33970667)x1	IGHV3OR16-17, IGHV3OR16-8 +9 more	Copy number loss	See cases	GBenign
Select item 147098	GRCh38/hg38 16p11.2(chr16:32040173-33851861)x1	IGHV3OR16-17, IGHV3OR16-8 +9 more	Copy number loss	See cases	GBenign
Select item 153014	GRCh38/hg38 16p11.2(chr16:32055646-33970667)x3	IGHV3OR16-17, IGHV3OR16-8 +9 more	Copy number gain	See cases	GBenign
Select item 144455	GRCh38/hg38 16p11.2(chr16:32055646-33663093)x1	IGHV3OR16-8, LOC105369266 +8 more	Copy number loss	See cases	GBenign
Select item 147540	GRCh38/hg38 16p11.2(chr16:32289420-33970667)x1	IGHV3OR16-17, IGHV3OR16-8 +8 more	Copy number loss	See cases	GUncertain significance
Select item 147539	GRCh38/hg38 16p11.2(chr16:32289420-33970667)x3	IGHV3OR16-17, IGHV3OR16-8 +8 more	Copy number gain	See cases	GBenign
Select item 152965	GRCh38/hg38 16p11.2(chr16:32459304-33970667)x1	IGHV3OR16-17, IGHV3OR16-8 +8 more	Copy number loss	See cases	GBenign
Select item 147156	GRCh38/hg38 16p11.2(chr16:32459334-33495702)x1	IGHV3OR16-8, LOC105369266 +6 more	Copy number loss	See cases	GBenign
Select item 147254	GRCh38/hg38 16p11.2(chr16:32475528-33983242)x3	IGHV3OR16-17, IGHV3OR16-8 +8 more	Copy number gain	See cases	GBenign
Select item 146952	GRCh38/hg38 16p11.2(chr16:32639734-33851861)x1	IGHV3OR16-17, IGHV3OR16-8 +8 more	Copy number loss	See cases	GBenign
Select item 147176	GRCh38/hg38 16p11.2(chr16:32878714-33663064)x1	IGHV3OR16-8, LOC105369266 +6 more	Copy number loss	See cases	GBenign
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442519	GRCh37/hg19 16p11.2-11.1(chr16:32511178-35283214)x4	CCNYL3, TP53TG3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 157366	NC_000016.9:g.32608438_33557021del	TP53TG3, TP53TG3B +1 more	Deletion	Large for gestational age	Gnot provided
Select item 157365	Single allele	TP53TG3, TP53TG3B +2 more	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 157364	Single allele	TP53TG3, TP53TG3B +2 more	Deletion	Preeclampsia	Gnot provided

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Items: 25