ClinVar for MedGen (Select 859716) - ClinVar

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Items: 81

	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 2671885	NM_004970.3(IGFALS):c.2T>A (p.Met1Lys)	IGFALS (M1K)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GLikely pathogenic
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 1031486	NM_004970.3(IGFALS):c.260C>T (p.Ser87Leu)	IGFALS (S125L +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	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 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 887660	NM_004970.3(IGFALS):c.90C>T (p.Pro30=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	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 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 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 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 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 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 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 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 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 885380	NM_004970.3(IGFALS):c.444G>A (p.Leu148=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 885379	NM_004970.3(IGFALS):c.606G>A (p.Ala202=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 885378	NM_004970.3(IGFALS):c.654C>G (p.Ala218=)	IGFALS	Single nucleotide variant (synonymous 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 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 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 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 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 803146	NM_004970.3(IGFALS):c.958C>T (p.Gln320Ter)	IGFALS (Q320* +1 more)	Single nucleotide variant (nonsense +1 more)	Short stature due to primary acid-labile subunit deficiency	GBenign
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 774919	NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu)	IGFALS (P325L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 318275	NM_004970.3(IGFALS):c.-53A>G	IGFALS	Single nucleotide variant (5 prime UTR variant)	Short stature due to primary acid-labile subunit deficiency	GLikely benign
Select item 318274	NM_004970.3(IGFALS):c.-32G>A	IGFALS	Single nucleotide variant (5 prime UTR variant)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318273	NM_004970.3(IGFALS):c.-19A>G	IGFALS	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 318272	NM_004970.3(IGFALS):c.17-5C>A	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318271	NM_004970.3(IGFALS):c.33G>A (p.Ala11=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GBenign
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 318269	NM_004970.3(IGFALS):c.91G>A (p.Gly31Arg)	IGFALS (G31R +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318268	NM_004970.3(IGFALS):c.99G>A (p.Pro33=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency +1 more	GBenign/Likely benign
Select item 318267	NM_004970.3(IGFALS):c.107C>A (p.Ala36Asp)	IGFALS (A36D +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318266	NM_004970.3(IGFALS):c.108C>T (p.Ala36=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
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 318264	NM_004970.3(IGFALS):c.229C>A (p.Gln77Lys)	IGFALS (Q77K +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318263	NM_004970.3(IGFALS):c.246C>T (p.Asp82=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	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 318261	NM_004970.3(IGFALS):c.340G>A (p.Glu114Lys)	IGFALS (E114K +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318260	NM_004970.3(IGFALS):c.371T>C (p.Leu124Pro)	IGFALS (L124P +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318259	NM_004970.3(IGFALS):c.438C>T (p.Pro146=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318258	NM_004970.3(IGFALS):c.593A>T (p.Glu198Val)	IGFALS (E198V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 318257	NM_004970.3(IGFALS):c.605C>T (p.Ala202Val)	IGFALS (A202V +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	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 318255	NM_004970.3(IGFALS):c.646G>A (p.Gly216Ser)	IGFALS (G216S +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318254	NM_004970.3(IGFALS):c.684C>T (p.Asn228=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318253	NM_004970.3(IGFALS):c.777G>A (p.Pro259=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318252	NM_004970.3(IGFALS):c.801G>A (p.Ala267=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 318251	NM_004970.3(IGFALS):c.827A>G (p.Asn276Ser)	IGFALS (N276S +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GLikely pathogenic
Select item 318250	NM_004970.3(IGFALS):c.861C>T (p.Pro287=)	IGFALS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318249	NM_004970.3(IGFALS):c.872G>A (p.Gly291Asp)	IGFALS (G291D +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318248	NM_004970.3(IGFALS):c.917G>A (p.Arg306Gln)	IGFALS (R306Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance
Select item 318247	NM_004970.3(IGFALS):c.920C>T (p.Pro307Leu)	IGFALS (P307L +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 8129	NM_004970.3(IGFALS):c.583_591dup (p.Ser195_Arg197dup)	IGFALS	Duplication (inframe_insertion +1 more)	Short stature due to primary acid-labile subunit deficiency	GPathogenic
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 8127	NM_004970.3(IGFALS):c.103del (p.Glu35fs)	IGFALS (E73fs +1 more)	Deletion (frameshift variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GPathogenic

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Items: 81