Related gene-specific medical variations for Gene (Select 8379) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238790	NM_001013836.2(MAD1L1):c.1948C>T (p.Arg650Trp)	MAD1L1 (R106W +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	GUncertain significance
Select item 3121951	NM_001013836.2(MAD1L1):c.1475T>C (p.Leu492Pro)	LOC126859925, MAD1L1 (L400P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121950	NM_001013836.2(MAD1L1):c.1429C>G (p.Leu477Val)	LOC126859925, MAD1L1 (L385V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814915	GRCh37/hg19 7p22.3(chr7:1989321-2171115)x1	MAD1L1	Copy number loss	not provided	GLikely benign
Select item 771869	NM_001013836.2(MAD1L1):c.1461C>T (p.Ala487=)	LOC126859925, MAD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 686544	GRCh37/hg19 7p22.3(chr7:2166170-2189394)x1	MAD1L1	Copy number loss	not provided	GUncertain significance
Select item 685915	GRCh37/hg19 7p22.3(chr7:1835893-2021563)x3	MAD1L1	Copy number gain	not provided	GUncertain significance
Select item 395078	GRCh37/hg19 7p22.3(chr7:2175164-2252495)x1	MAD1L1	Copy number loss	See cases	GUncertain significance

ClinVar