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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 703473	NM_003380.5(VIM):c.99G>T (p.Thr33=)	VIM-AS1, VIM	Single nucleotide variant (non-coding transcript variant +1 more)	VIM-related disorder +1 more	GBenign/Likely benign
Select item 2629881	NM_003380.5(VIM):c.518T>C (p.Val173Ala)	VIM, VIM-AS1 (V173A)	Single nucleotide variant (non-coding transcript variant +1 more)	VIM-related disorder	GUncertain significance
Select item 772763	NM_003380.5(VIM):c.542A>C (p.Asp181Ala)	VIM, VIM-AS1 (D181A)	Single nucleotide variant (non-coding transcript variant +1 more)	VIM-related disorder +1 more	GLikely benign
Select item 3047409	NM_003380.5(VIM):c.646G>A (p.Ala216Thr)	VIM (A216T)	Single nucleotide variant (missense variant)	VIM-related disorder	GLikely benign
Select item 772056	NM_003380.5(VIM):c.749A>G (p.Gln250Arg)	VIM (Q250R)	Single nucleotide variant (missense variant)	VIM-related disorder +1 more	GLikely benign

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