"Ambry Genetics"[submitter] AND "IGFALS"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2347639	NM_004970.3(IGFALS):c.1762G>A (p.Glu588Lys)	IGFALS (E626K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366401	NM_004970.3(IGFALS):c.1718C>T (p.Pro573Leu)	IGFALS (P573L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 886409	NM_004970.3(IGFALS):c.1697G>A (p.Cys566Tyr)	IGFALS (C566Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 886410	NM_004970.3(IGFALS):c.1651G>A (p.Ala551Thr)	IGFALS (A551T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2222070	NM_004970.3(IGFALS):c.1643G>A (p.Arg548Gln)	IGFALS (R586Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108591	NM_004970.3(IGFALS):c.1622G>A (p.Gly541Asp)	IGFALS (G579D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255849	NM_004970.3(IGFALS):c.1598T>C (p.Leu533Pro)	IGFALS (L533P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108589	NM_004970.3(IGFALS):c.1525C>A (p.Arg509Ser)	IGFALS (R509S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 318238	NM_004970.3(IGFALS):c.1466T>C (p.Val489Ala)	IGFALS (V489A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2512314	NM_004970.3(IGFALS):c.1465G>T (p.Val489Phe)	IGFALS (V527F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108588	NM_004970.3(IGFALS):c.1447C>T (p.Arg483Trp)	IGFALS (R483W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383496	NM_004970.3(IGFALS):c.1415A>C (p.Glu472Ala)	IGFALS (E472A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 737579	NM_004970.3(IGFALS):c.1406G>A (p.Arg469His)	IGFALS (R507H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2590416	NM_004970.3(IGFALS):c.1348C>T (p.Pro450Ser)	IGFALS (P450S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263082	NM_004970.3(IGFALS):c.1271G>C (p.Gly424Ala)	IGFALS (G462A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3108587	NM_004970.3(IGFALS):c.1241G>A (p.Arg414Gln)	IGFALS (R452Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379949	NM_004970.3(IGFALS):c.1229C>T (p.Ser410Leu)	IGFALS (S410L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522557	NM_004970.3(IGFALS):c.1199G>A (p.Arg400His)	IGFALS (R400H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554366	NM_004970.3(IGFALS):c.1198C>T (p.Arg400Cys)	IGFALS (R438C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 318243	NM_004970.3(IGFALS):c.1195G>A (p.Gly399Arg)	IGFALS (G399R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2601636	NM_004970.3(IGFALS):c.1148G>A (p.Arg383Gln)	IGFALS (R383Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2226445	NM_004970.3(IGFALS):c.1127A>G (p.Asn376Ser)	IGFALS (N376S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379042	NM_004970.3(IGFALS):c.1124G>A (p.Arg375Gln)	IGFALS (R375Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290034	NM_004970.3(IGFALS):c.1123C>T (p.Arg375Trp)	IGFALS (R375W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473551	NM_004970.3(IGFALS):c.1078G>C (p.Gly360Arg)	IGFALS (G360R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207099	NM_004970.3(IGFALS):c.1031C>G (p.Thr344Arg)	IGFALS (T344R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212535	NM_004970.3(IGFALS):c.995G>A (p.Arg332His)	IGFALS (R370H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108598	NM_004970.3(IGFALS):c.980G>A (p.Arg327Gln)	IGFALS (R327Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489987	NM_004970.3(IGFALS):c.974G>A (p.Arg325His)	IGFALS (R363H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328458	NM_004970.3(IGFALS):c.956T>G (p.Leu319Arg)	IGFALS (L319R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610932	NM_004970.3(IGFALS):c.941A>T (p.His314Leu)	IGFALS (H314L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328149	NM_004970.3(IGFALS):c.923G>A (p.Arg308His)	IGFALS (R308H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108597	NM_004970.3(IGFALS):c.916C>T (p.Arg306Trp)	IGFALS (R306W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597386	NM_004970.3(IGFALS):c.898A>G (p.Asn300Asp)	IGFALS (N338D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108596	NM_004970.3(IGFALS):c.889C>A (p.Leu297Met)	IGFALS (L335M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108595	NM_004970.3(IGFALS):c.862G>A (p.Gly288Ser)	IGFALS (G326S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228683	NM_004970.3(IGFALS):c.773C>T (p.Ala258Val)	IGFALS (A258V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299541	NM_004970.3(IGFALS):c.691C>T (p.Arg231Trp)	IGFALS (R231W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301766	NM_004970.3(IGFALS):c.685G>A (p.Ala229Thr)	IGFALS (A229T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514188	NM_004970.3(IGFALS):c.681G>C (p.Arg227Ser)	IGFALS (R227S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2408563	NM_004970.3(IGFALS):c.635C>T (p.Ala212Val)	IGFALS (A250V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2322946	NM_004970.3(IGFALS):c.499G>A (p.Glu167Lys)	IGFALS (E167K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108594	NM_004970.3(IGFALS):c.470G>A (p.Arg157His)	IGFALS (R157H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108593	NM_004970.3(IGFALS):c.449C>T (p.Ser150Leu)	IGFALS (S188L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 887469	NM_004970.3(IGFALS):c.439G>A (p.Ala147Thr)	IGFALS (A147T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2220975	NM_004970.3(IGFALS):c.418G>A (p.Gly140Ser)	IGFALS (G178S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466548	NM_004970.3(IGFALS):c.392G>A (p.Arg131Gln)	IGFALS (R169Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515309	NM_004970.3(IGFALS):c.391C>T (p.Arg131Trp)	IGFALS (R131W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108592	NM_004970.3(IGFALS):c.389A>G (p.Glu130Gly)	IGFALS (E168G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376865	NM_004970.3(IGFALS):c.383A>G (p.His128Arg)	IGFALS (H128R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256572	NM_004970.3(IGFALS):c.307C>T (p.Leu103Phe)	IGFALS (L103F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358963	NM_004970.3(IGFALS):c.187A>G (p.Arg63Gly)	IGFALS (R63G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529263	NM_004970.3(IGFALS):c.181A>G (p.Ser61Gly)	IGFALS (S61G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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	GUncertain significance
Select item 2612181	NM_004970.3(IGFALS):c.164A>C (p.Glu55Ala)	IGFALS (E55A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108590	NM_004970.3(IGFALS):c.157G>A (p.Ala53Thr)	IGFALS (A53T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2563748	NM_004970.3(IGFALS):c.153C>G (p.Asp51Glu)	IGFALS (D89E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2253929	NM_004970.3(IGFALS):c.125C>T (p.Pro42Leu)	IGFALS (P80L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108586	NM_004970.3(IGFALS):c.119C>T (p.Ala40Val)	IGFALS (A40V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611143	NM_004970.3(IGFALS):c.98C>T (p.Pro33Leu)	IGFALS (P71L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528165	NM_004970.3(IGFALS):c.62G>C (p.Gly21Ala)	IGFALS (G59A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63