"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TMLHE"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 749213	NM_018196.4(TMLHE):c.798T>C (p.Gly266=)	TMLHE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661879	NM_018196.4(TMLHE):c.722G>A (p.Arg241Gln)	TMLHE (R241Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1299221	NM_018196.4(TMLHE):c.698C>T (p.Ala233Val)	TMLHE (A233V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012899	NM_018196.4(TMLHE):c.331C>T (p.Leu111=)	TMLHE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807879	NM_018196.4(TMLHE):c.85C>G (p.Pro29Ala)	TMLHE (P29A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024657	GRCh37/hg19 Xq28(chrX:154736559-155130251)x3	TMLHE	Copy number gain	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 807889	GRCh37/hg19 Xq28(chrX:154774757-154774937)x0	TMLHE	Copy number loss	not provided	GUncertain significance

ClinVar