"GeneDx"[submitter] AND "IGFALS"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 152596	GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1	EME2, HAGH +19 more	Copy number loss	See cases	GBenign
Select item 1711909	NM_004970.3(IGFALS):c.1818A>T (p.Ter606Cys)	IGFALS	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 1302071	NM_004970.3(IGFALS):c.1772G>A (p.Gly591Glu)	IGFALS (G591E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 318233	NM_004970.3(IGFALS):c.1708G>A (p.Asp570Asn)	IGFALS (D570N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1307809	NM_004970.3(IGFALS):c.1477C>T (p.Arg493Cys)	IGFALS (R493C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365176	NM_004970.3(IGFALS):c.1444C>T (p.Gln482Ter)	IGFALS (Q482* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3372131	NM_004970.3(IGFALS):c.1424C>T (p.Ala475Val)	IGFALS (A475V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 318241	NM_004970.3(IGFALS):c.1386C>T (p.Tyr462=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 620476	NM_004970.3(IGFALS):c.1293G>A (p.Trp431Ter)	IGFALS (W431* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 280144	NM_004970.3(IGFALS):c.1291del (p.Trp431fs)	IGFALS (W469fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2663440	NM_004970.3(IGFALS):c.833T>G (p.Val278Gly)	IGFALS (V278G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722878	NM_004970.3(IGFALS):c.810G>C (p.Trp270Cys)	IGFALS (W270C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663653	NM_004970.3(IGFALS):c.775C>A (p.Pro259Thr)	IGFALS (P259T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1698093	NM_004970.3(IGFALS):c.751C>T (p.Arg251Cys)	IGFALS (R251C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723698	NM_004970.3(IGFALS):c.655G>A (p.Glu219Lys)	IGFALS (E219K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 318256	NM_004970.3(IGFALS):c.634G>A (p.Ala212Thr)	IGFALS (A212T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1304119	NM_004970.3(IGFALS):c.519G>A (p.Trp173Ter)	IGFALS (W173* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 318262	NM_004970.3(IGFALS):c.289C>T (p.Leu97Phe)	IGFALS (L97F +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GBenign
Select item 318265	NM_004970.3(IGFALS):c.210T>C (p.Asp70=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2508756	NM_004970.3(IGFALS):c.172G>A (p.Val58Ile)	IGFALS (V58I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 887659	NM_004970.3(IGFALS):c.154G>A (p.Asp52Asn)	IGFALS (D90N +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GUncertain significance
Select item 3371948	NM_004970.3(IGFALS):c.89C>T (p.Pro30Leu)	IGFALS (P30L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 318270	NM_004970.3(IGFALS):c.65C>T (p.Pro22Leu)	IGFALS (P22L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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

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Items: 31