"GeneDx"[submitter] AND "TANC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151097	GRCh38/hg38 2q24.2(chr2:159064347-159108014)x3	LOC129934984, TANC1	Copy number gain	See cases	GUncertain significance
Select item 1244695	NM_033394.3(TANC1):c.4716C>T (p.Ala1572=)	TANC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1265522	NM_033394.3(TANC1):c.4717A>G (p.Thr1573Ala)	TANC1 (T1372A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1264523	NM_033394.3(TANC1):c.4755A>G (p.Thr1585=)	TANC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253710	GRCh37/hg19 2q24.1-24.2(chr2:159479568-160033905)x3	PKP4, TANC1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

ClinVar