"DYNC1I1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1613744	NM_001135556.2(DYNC1I1):c.33A>G (p.Leu11=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related disorder +1 more	GLikely benign
Select item 402810	NM_001135556.2(DYNC1I1):c.108+7C>G	DYNC1I1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1599379	NM_001135556.2(DYNC1I1):c.140A>C (p.Gln47Pro)	DYNC1I1 (Q47P)	Single nucleotide variant (missense variant)	DYNC1I1-related disorder +1 more	GBenign
Select item 1555588	NM_001135556.2(DYNC1I1):c.216G>A (p.Pro72=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 730484	NM_001135556.2(DYNC1I1):c.224-49C>G	DYNC1I1 (Q76E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3050717	NM_001135556.2(DYNC1I1):c.294C>A (p.Gly98=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related disorder	GLikely benign
Select item 711004	NM_001135556.2(DYNC1I1):c.544C>A (p.Leu182Met)	DYNC1I1 (L179M +3 more)	Single nucleotide variant (missense variant)	DYNC1I1-related disorder +1 more	GBenign
Select item 783496	NM_001135556.2(DYNC1I1):c.726G>A (p.Glu242=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related disorder +1 more	GBenign
Select item 3050061	NM_001135556.2(DYNC1I1):c.1254T>C (p.Asn418=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related disorder	GLikely benign
Select item 1545765	NM_001135556.2(DYNC1I1):c.1638C>T (p.Asn546=)	LOC110121292, DYNC1I1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 402812	NM_001135556.2(DYNC1I1):c.1651-9C>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3046871	NM_001135556.2(DYNC1I1):c.1671C>T (p.Ala557=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related disorder	GLikely benign
Select item 3048939	NM_001278422.2(DYNC1I1):c.1773A>G (p.Leu591=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related disorder	GBenign
Select item 3039347	NM_001278422.2(DYNC1I1):c.*6T>C	DYNC1I1	Single nucleotide variant (3 prime UTR variant)	DYNC1I1-related disorder	GBenign