C3151461[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435939	NM_017668.3(NDE1):c.83+1G>T	NDE1	Single nucleotide variant (splice donor variant)	Lissencephaly 4	GPathogenic
Select item 159019	NM_017668.3(NDE1):c.84-5T>C	NDE1	Single nucleotide variant (intron variant)	Lissencephaly 4	GUncertain significance
Select item 211577	NM_017668.3(NDE1):c.155C>T (p.Thr52Met)	NDE1 (T52M)	Single nucleotide variant (missense variant)	NDE1-related microhydranencephaly +3 more	GUncertain significance
Select item 287331	NM_017668.3(NDE1):c.302C>T (p.Ala101Val)	NDE1 (A101V)	Single nucleotide variant (missense variant)	Lissencephaly 4 +3 more	GUncertain significance
Select item 138430	NM_017668.3(NDE1):c.572C>T (p.Thr191Ile)	NDE1 (T191I)	Single nucleotide variant (missense variant)	Lissencephaly 4 +3 more	GBenign/Likely benign
Select item 159014	NM_017668.3(NDE1):c.623C>T (p.Ala208Val)	NDE1 (A208V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 159015	NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)	NDE1 (R220*)	Single nucleotide variant (nonsense)	Lissencephaly 4	GPathogenic/Likely pathogenic
Select item 435935	NM_017668.3(NDE1):c.701G>A (p.Arg234His)	NDE1 (R234H)	Single nucleotide variant (missense variant)	NDE1-related microhydranencephaly +4 more	GConflicting classifications of pathogenicity
Select item 159018	NM_017668.3(NDE1):c.744G>A (p.Ala248=)	NDE1	Single nucleotide variant (synonymous variant)	Lissencephaly 4 +1 more	GConflicting classifications of pathogenicity
Select item 138431	NM_017668.3(NDE1):c.837C>T (p.Tyr279=)	NDE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159020	NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)	NDE1 (S291F)	Single nucleotide variant (missense variant)	Lissencephaly 4 +2 more	GConflicting classifications of pathogenicity
Select item 138354	NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +7 more	GBenign/Likely benign
Select item 138353	NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +7 more	GBenign/Likely benign
Select item 159022	NM_017668.3(NDE1):c.956C>T (p.Thr319Met)	MYH11, NDE1 (T319M +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance