"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TNMD"[gene - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661031	NM_022144.3(TNMD):c.298T>C (p.Leu100=)	TNMD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661032	NM_022144.3(TNMD):c.345G>C (p.Val115=)	TNMD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 493606	GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3	CENPI, CSTF2 +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

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