"Genome-Nilou Lab"[submitter] AND "MYSM1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169493	NM_001085487.3(MYSM1):c.2262C>T (p.Leu754=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1169494	NM_001085487.3(MYSM1):c.2165-10G>A	MYSM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1169779	NM_001085487.3(MYSM1):c.2032-8C>A	MYSM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1321832	NM_001085487.3(MYSM1):c.1572+22G>C	MYSM1	Single nucleotide variant (intron variant)	Bone marrow failure syndrome 4 +1 more	GBenign
Select item 1169780	NM_001085487.3(MYSM1):c.1275A>G (p.Pro425=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1169781	NM_001085487.3(MYSM1):c.790A>G (p.Thr264Ala)	MYSM1 (T264A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1170149	NM_001085487.3(MYSM1):c.400-18C>T	MYSM1	Single nucleotide variant (intron variant)	Bone marrow failure syndrome 4 +1 more	GBenign
Select item 1321833	NM_001085487.3(MYSM1):c.148-29A>G	MYSM1	Single nucleotide variant (intron variant)	Bone marrow failure syndrome 4 +1 more	GBenign
Select item 1169495	NM_001085487.3(MYSM1):c.69-6T>C	MYSM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar