IGFALS[gene] - ClinVar - NCBI

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	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 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	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 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 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 318227	NM_004970.3(IGFALS):c.*175C>T	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GLikely benign
Select item 318228	NM_004970.3(IGFALS):c.*155T>G	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GLikely benign
Select item 318229	NM_004970.3(IGFALS):c.*140C>T	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318230	NM_004970.3(IGFALS):c.*102C>G	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 884381	NM_004970.3(IGFALS):c.*83G>A	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 884382	NM_004970.3(IGFALS):c.*73T>C	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 884383	NM_004970.3(IGFALS):c.*50T>C	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 884384	NM_004970.3(IGFALS):c.*35C>G	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 884385	NM_004970.3(IGFALS):c.*23C>T	IGFALS	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
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 318231	NM_004970.3(IGFALS):c.1795G>A (p.Glu599Lys)	IGFALS (E599K +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 886407	NM_004970.3(IGFALS):c.1787A>G (p.Asp596Gly)	IGFALS (D634G +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 3069037	NM_004970.3(IGFALS):c.1783C>T (p.Arg595Trp)	IGFALS (R595W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 886408	NM_004970.3(IGFALS):c.1779C>G (p.Asp593Glu)	IGFALS (D631E +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 975921	NM_004970.3(IGFALS):c.1777G>A (p.Asp593Asn)	IGFALS (D593N +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	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 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 318232	NM_004970.3(IGFALS):c.1724C>T (p.Ala575Val)	IGFALS (A575V +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	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 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 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 3285525	NM_004970.3(IGFALS):c.1695C>G (p.Ile565Met)	IGFALS (I603M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 318234	NM_004970.3(IGFALS):c.1694T>C (p.Ile565Thr)	IGFALS (I565T +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 2691539	NM_004970.3(IGFALS):c.1678C>T (p.Arg560Cys)	IGFALS (R560C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 318235	NM_004970.3(IGFALS):c.1642C>T (p.Arg548Trp)	IGFALS (R548W +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GBenign
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 8128	NM_004970.3(IGFALS):c.1618T>C (p.Cys540Arg)	IGFALS (C540R +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GPathogenic
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 3285519	NM_004970.3(IGFALS):c.1577C>T (p.Pro526Leu)	IGFALS (P564L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723901	NM_004970.3(IGFALS):c.1569G>A (p.Pro523=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 318236	NM_004970.3(IGFALS):c.1566G>A (p.Thr522=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 740202	NM_004970.3(IGFALS):c.1526G>A (p.Arg509His)	IGFALS (R509H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 790698	NM_004970.3(IGFALS):c.1516G>A (p.Gly506Arg)	IGFALS (G544R +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GConflicting classifications of pathogenicity
Select item 724110	NM_004970.3(IGFALS):c.1492C>T (p.Pro498Ser)	IGFALS (P536S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 887416	NM_004970.3(IGFALS):c.1488A>G (p.Ala496=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 2691544	NM_004970.3(IGFALS):c.1483dup (p.Glu495fs)	IGFALS (E495fs +1 more)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 318237	NM_004970.3(IGFALS):c.1478G>A (p.Arg493His)	IGFALS (R493H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 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 2632862	NM_004970.3(IGFALS):c.1475A>G (p.Asn492Ser)	IGFALS (N492S +1 more)	Single nucleotide variant (missense variant +1 more)	IGFALS-related disorder	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 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
Select item 711955	NM_004970.3(IGFALS):c.1461G>T (p.Leu487=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 3053708	NM_004970.3(IGFALS):c.1446G>A (p.Gln482=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	IGFALS-related disorder	GLikely benign
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 718756	NM_004970.3(IGFALS):c.1436G>A (p.Gly479Asp)	IGFALS (G479D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318239	NM_004970.3(IGFALS):c.1425G>A (p.Ala475=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GBenign
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 318240	NM_004970.3(IGFALS):c.1414G>C (p.Glu472Gln)	IGFALS (E472Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 737579	NM_004970.3(IGFALS):c.1406G>A (p.Arg469His)	IGFALS (R507H +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3285517	NM_004970.3(IGFALS):c.1400G>A (p.Arg467His)	IGFALS (R467H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3063821	NM_004970.3(IGFALS):c.1399C>T (p.Arg467Cys)	IGFALS (R467C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 887596	NM_004970.3(IGFALS):c.1357C>G (p.Leu453Val)	IGFALS (L491V +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GUncertain significance
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 748189	NM_004970.3(IGFALS):c.1338C>T (p.Leu446=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 318242	NM_004970.3(IGFALS):c.1266C>T (p.Leu422=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GConflicting classifications of pathogenicity
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 3285526	NM_004970.3(IGFALS):c.1222G>A (p.Gly408Ser)	IGFALS (G408S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3285522	NM_004970.3(IGFALS):c.1205G>A (p.Arg402His)	IGFALS (R402H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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)	Short stature due to primary acid-labile subunit deficiency +2 more	GConflicting classifications of pathogenicity
Select item 318244	NM_004970.3(IGFALS):c.1173G>A (p.Leu391=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
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 2691698	NM_004970.3(IGFALS):c.1143G>T (p.Val381=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 887597	NM_004970.3(IGFALS):c.1133C>T (p.Pro378Leu)	IGFALS (P378L +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
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 1028833	NM_004970.3(IGFALS):c.1094C>T (p.Ala365Val)	IGFALS (A403V +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	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 318245	NM_004970.3(IGFALS):c.1065G>A (p.Ala355=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	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 318246	NM_004970.3(IGFALS):c.1031C>T (p.Thr344Met)	IGFALS (T344M +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	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 3285523	NM_004970.3(IGFALS):c.979C>T (p.Arg327Trp)	IGFALS (R327W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3285515	NM_004970.3(IGFALS):c.978C>G (p.Ile326Met)	IGFALS (I326M +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

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