Related gene-specific medical variations for Gene (Select 375449) - ClinVar - NCBI

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Items: 11

	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 1809804	NM_001164664.2(MAST4):c.7655C>G (p.Ser2552Trp)	MAST4 (S2284W +8 more)	Single nucleotide variant (missense variant)	Infantile spasms	GLikely pathogenic
Select item 1809803	NM_001164664.2(MAST4):c.4412C>T (p.Thr1471Ile)	MAST4 (T1203I +8 more)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1809802	NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)	MAST4 (I692T +5 more)	Single nucleotide variant (missense variant)	Infantile spasms	GLikely pathogenic
Select item 1809242	GRCh37/hg19 5q12.3(chr5:66088768-66420880)x3	MAST4	Copy number gain	not provided	GUncertain significance
Select item 1701694	NM_001164664.2(MAST4):c.3526-3T>C	MAST4	Single nucleotide variant (intron variant)	MAST4-associated generalized epilepsy	GUncertain significance
Select item 1679665	NM_001164664.2(MAST4):c.642+55458C>T	MAST4	Single nucleotide variant (intron variant)	MAST-associated epilepsy syndrome	GUncertain significance
Select item 1340699	GRCh37/hg19 5q12.3(chr5:66281601-66433536)x1	MAST4	Copy number loss	not provided	GUncertain significance
Select item 771376	NM_001164664.2(MAST4):c.7136A>G (p.Tyr2379Cys)	LOC129993997, MAST4 (Y2173C +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563076	GRCh37/hg19 5q12.3(chr5:65980440-66429806)x3	MAST4	Copy number gain	not provided	GUncertain significance
Select item 444849	GRCh37/hg19 5q12.3(chr5:66028726-66169681)x1	MAST4	Copy number loss	not provided	GLikely benign