Related gene-specific medical variations for Gene (Select 3483) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362538	NM_004970.3(IGFALS):c.250AAC[1] (p.Asn85del)	IGFALS (N123del +1 more)	Microsatellite (non-coding transcript variant)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 3361292	NM_004970.3(IGFALS):c.451C>G (p.Leu151Val)	IGFALS (L151V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360068	NM_004970.3(IGFALS):c.313C>A (p.Leu105Met)	IGFALS (L105M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359743	NM_004970.3(IGFALS):c.1225C>T (p.Leu409Phe)	IGFALS (L409F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432821	NM_004970.3(IGFALS):c.17-144G>C	IGFALS	Single nucleotide variant (intron variant)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 1224486	NM_004970.3(IGFALS):c.484G>A (p.Glu162Lys)	IGFALS (E162K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224324	NM_004970.3(IGFALS):c.1465G>A (p.Val489Ile)	IGFALS (V489I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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