"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MAST4"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2655496	NM_001164664.2(MAST4):c.336C>T (p.Ser112=)	LOC129993990, MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655497	NM_001164664.2(MAST4):c.3036C>G (p.Ala1012=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655498	NM_001164664.2(MAST4):c.3519C>T (p.Ile1173=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655499	NM_001164664.2(MAST4):c.3545C>T (p.Pro1182Leu)	MAST4 (P1115L +8 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655500	NM_001164664.2(MAST4):c.6759C>T (p.Thr2253=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655501	NM_001164664.2(MAST4):c.7110A>G (p.Glu2370=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655502	NM_001164664.2(MAST4):c.7419_7422del (p.Glu2474fs)	MAST4 (E2206fs +8 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2655503	NM_001164664.2(MAST4):c.7659G>C (p.Val2553=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	NLN, PPWD1 +10 more	Copy number loss	not provided	GPathogenic
Select item 444849	GRCh37/hg19 5q12.3(chr5:66028726-66169681)x1	MAST4	Copy number loss	not provided	GLikely benign