"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TMEM200C"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2648535	NM_001395400.1(TMEM200C):c.1199G>T (p.Ser400Ile)	MIR3976HG, TMEM200C (S400I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648536	NM_001395400.1(TMEM200C):c.1198A>C (p.Ser400Arg)	MIR3976HG, TMEM200C (S400R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648537	NM_001395400.1(TMEM200C):c.963C>G (p.Ala321=)	MIR3976HG, TMEM200C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648538	NM_001395400.1(TMEM200C):c.676_690del (p.Ala226_Ala230del)	MIR3976HG, TMEM200C	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2648539	NM_001395400.1(TMEM200C):c.435C>T (p.Ser145=)	MIR3976HG, TMEM200C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	ADCYAP1, AKAIN1 +29 more	Copy number loss	not provided	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	PRELID3A, PSMG2 +65 more	Copy number gain	not provided	GPathogenic

ClinVar