ClinVar for MedGen (Select 859716) - ClinVar

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Items: 79

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24328211.	NM_004970.3(IGFALS):c.17-144G>C GRCh37: Chr16:1842546 GRCh38: Chr16:1792545	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 10314862.	NM_004970.3(IGFALS):c.260C>T (p.Ser87Leu) GRCh37: Chr16:1842159 GRCh38: Chr16:1792158	IGFALS	S125L, S87L	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jun 9, 2018)	criteria provided, single submitter
Select item 10288333.	NM_004970.3(IGFALS):c.1094C>T (p.Ala365Val) GRCh37: Chr16:1841325 GRCh38: Chr16:1791324	IGFALS	A403V, A365V	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Apr 29, 2019)	criteria provided, single submitter
Select item 9759214.	NM_004970.3(IGFALS):c.1777G>A (p.Asp593Asn) GRCh37: Chr16:1840642 GRCh38: Chr16:1790641	IGFALS	D593N, D631N	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Oct 12, 2017)	criteria provided, single submitter
Select item 8876605.	NM_004970.3(IGFALS):c.90C>T (p.Pro30=) GRCh37: Chr16:1842329 GRCh38: Chr16:1792328	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8876596.	NM_004970.3(IGFALS):c.154G>A (p.Asp52Asn) GRCh37: Chr16:1842265 GRCh38: Chr16:1792264	IGFALS	D90N, D52N	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8875977.	NM_004970.3(IGFALS):c.1133C>T (p.Pro378Leu) GRCh37: Chr16:1841286 GRCh38: Chr16:1791285	IGFALS	P378L, P416L	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jun 17, 2017)	criteria provided, single submitter
Select item 8875968.	NM_004970.3(IGFALS):c.1357C>G (p.Leu453Val) GRCh37: Chr16:1841062 GRCh38: Chr16:1791061	IGFALS	L491V, L453V	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8874699.	NM_004970.3(IGFALS):c.439G>A (p.Ala147Thr) GRCh37: Chr16:1841980 GRCh38: Chr16:1791979	IGFALS	A147T, A185T	Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases	Uncertain significance (Jul 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88741610.	NM_004970.3(IGFALS):c.1488A>G (p.Ala496=) GRCh37: Chr16:1840931 GRCh38: Chr16:1790930	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88641011.	NM_004970.3(IGFALS):c.1651G>A (p.Ala551Thr) GRCh37: Chr16:1840768 GRCh38: Chr16:1790767	IGFALS	A551T, A589T	Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88640912.	NM_004970.3(IGFALS):c.1697G>A (p.Cys566Tyr) GRCh37: Chr16:1840722 GRCh38: Chr16:1790721	IGFALS	C566Y, C604Y	Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88640813.	NM_004970.3(IGFALS):c.1779C>G (p.Asp593Glu) GRCh37: Chr16:1840640 GRCh38: Chr16:1790639	IGFALS	D631E, D593E	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88640714.	NM_004970.3(IGFALS):c.1787A>G (p.Asp596Gly) GRCh37: Chr16:1840632 GRCh38: Chr16:1790631	IGFALS	D634G, D596G	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88538015.	NM_004970.3(IGFALS):c.444G>A (p.Leu148=) GRCh37: Chr16:1841975 GRCh38: Chr16:1791974	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88537916.	NM_004970.3(IGFALS):c.606G>A (p.Ala202=) GRCh37: Chr16:1841813 GRCh38: Chr16:1791812	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88537817.	NM_004970.3(IGFALS):c.654C>G (p.Ala218=) GRCh37: Chr16:1841765 GRCh38: Chr16:1791764	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88438518.	NM_004970.3(IGFALS):c.*23C>T GRCh37: Chr16:1840578 GRCh38: Chr16:1790577	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88438419.	NM_004970.3(IGFALS):c.*35C>G GRCh37: Chr16:1840566 GRCh38: Chr16:1790565	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88438320.	NM_004970.3(IGFALS):c.*50T>C GRCh37: Chr16:1840551 GRCh38: Chr16:1790550	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88438221.	NM_004970.3(IGFALS):c.*73T>C GRCh37: Chr16:1840528 GRCh38: Chr16:1790527	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88438122.	NM_004970.3(IGFALS):c.*83G>A GRCh37: Chr16:1840518 GRCh38: Chr16:1790517	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 80314623.	NM_004970.3(IGFALS):c.958C>T (p.Gln320Ter) GRCh37: Chr16:1841461 GRCh38: Chr16:1791460	IGFALS	Q320, Q358	Short stature due to primary acid-labile subunit deficiency	Benign (May 28, 2019)	criteria provided, single submitter
Select item 79069824.	NM_004970.3(IGFALS):c.1516G>A (p.Gly506Arg) GRCh37: Chr16:1840903 GRCh38: Chr16:1790902	IGFALS	G544R, G506R	not provided, Short stature due to primary acid-labile subunit deficiency	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 77491925.	NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu) GRCh37: Chr16:1841559 GRCh38: Chr16:1791558	IGFALS	P325L, P287L	not specified, Short stature due to primary acid-labile subunit deficiency, not provided	Conflicting interpretations of pathogenicity (Aug 21, 2023)	criteria provided, conflicting interpretations
Select item 73757926.	NM_004970.3(IGFALS):c.1406G>A (p.Arg469His) GRCh37: Chr16:1841013 GRCh38: Chr16:1791012	IGFALS	R507H, R469H	Short stature due to primary acid-labile subunit deficiency, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 25, 2023)	criteria provided, conflicting interpretations
Select item 71875627.	NM_004970.3(IGFALS):c.1436G>A (p.Gly479Asp) GRCh37: Chr16:1840983 GRCh38: Chr16:1790982	IGFALS	G479D, G517D	not provided, Short stature due to primary acid-labile subunit deficiency	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 31827528.	NM_004970.3(IGFALS):c.-53A>G GRCh37: Chr16:1843706 GRCh38: Chr16:1793705	IGFALS		Short stature due to primary acid-labile subunit deficiency	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31827429.	NM_004970.3(IGFALS):c.-32G>A GRCh37: Chr16:1843685 GRCh38: Chr16:1793684	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31827330.	NM_004970.3(IGFALS):c.-19A>G GRCh37: Chr16:1843672 GRCh38: Chr16:1793671	IGFALS		Short stature due to primary acid-labile subunit deficiency	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31827231.	NM_004970.3(IGFALS):c.17-5C>A GRCh37: Chr16:1842407 GRCh38: Chr16:1792406	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31827132.	NM_004970.3(IGFALS):c.33G>A (p.Ala11=) GRCh37: Chr16:1842386 GRCh38: Chr16:1792385	IGFALS		Short stature due to primary acid-labile subunit deficiency, not provided	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31827033.	NM_004970.3(IGFALS):c.65C>T (p.Pro22Leu) GRCh37: Chr16:1842354 GRCh38: Chr16:1792353	IGFALS	P22L, P60L	not provided, Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31826934.	NM_004970.3(IGFALS):c.91G>A (p.Gly31Arg) GRCh37: Chr16:1842328 GRCh38: Chr16:1792327	IGFALS	G31R, G69R	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31826835.	NM_004970.3(IGFALS):c.99G>A (p.Pro33=) GRCh37: Chr16:1842320 GRCh38: Chr16:1792319	IGFALS		Short stature due to primary acid-labile subunit deficiency, not provided	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31826736.	NM_004970.3(IGFALS):c.107C>A (p.Ala36Asp) GRCh37: Chr16:1842312 GRCh38: Chr16:1792311	IGFALS	A36D, A74D	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31826637.	NM_004970.3(IGFALS):c.108C>T (p.Ala36=) GRCh37: Chr16:1842311 GRCh38: Chr16:1792310	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31826538.	NM_004970.3(IGFALS):c.210T>C (p.Asp70=) GRCh37: Chr16:1842209 GRCh38: Chr16:1792208	IGFALS		Short stature due to primary acid-labile subunit deficiency, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31826439.	NM_004970.3(IGFALS):c.229C>A (p.Gln77Lys) GRCh37: Chr16:1842190 GRCh38: Chr16:1792189	IGFALS	Q77K, Q115K	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31826340.	NM_004970.3(IGFALS):c.246C>T (p.Asp82=) GRCh37: Chr16:1842173 GRCh38: Chr16:1792172	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31826241.	NM_004970.3(IGFALS):c.289C>T (p.Leu97Phe) GRCh37: Chr16:1842130 GRCh38: Chr16:1792129	IGFALS	L97F, L135F	Short stature due to primary acid-labile subunit deficiency, not provided	Benign (Jan 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31826142.	NM_004970.3(IGFALS):c.340G>A (p.Glu114Lys) GRCh37: Chr16:1842079 GRCh38: Chr16:1792078	IGFALS	E114K, E152K	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31826043.	NM_004970.3(IGFALS):c.371T>C (p.Leu124Pro) GRCh37: Chr16:1842048 GRCh38: Chr16:1792047	IGFALS	L124P, L162P	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31825944.	NM_004970.3(IGFALS):c.438C>T (p.Pro146=) GRCh37: Chr16:1841981 GRCh38: Chr16:1791980	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31825845.	NM_004970.3(IGFALS):c.593A>T (p.Glu198Val) GRCh37: Chr16:1841826 GRCh38: Chr16:1791825	IGFALS	E198V, E236V	Short stature due to primary acid-labile subunit deficiency	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31825746.	NM_004970.3(IGFALS):c.605C>T (p.Ala202Val) GRCh37: Chr16:1841814 GRCh38: Chr16:1791813	IGFALS	A202V, A240V	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31825647.	NM_004970.3(IGFALS):c.634G>A (p.Ala212Thr) GRCh37: Chr16:1841785 GRCh38: Chr16:1791784	IGFALS	A212T, A250T	not provided, Inborn genetic diseases, not specified, Short stature due to primary acid-labile subunit deficiency	Conflicting interpretations of pathogenicity (Jan 25, 2023)	criteria provided, conflicting interpretations
Select item 31825548.	NM_004970.3(IGFALS):c.646G>A (p.Gly216Ser) GRCh37: Chr16:1841773 GRCh38: Chr16:1791772	IGFALS	G216S, G254S	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31825449.	NM_004970.3(IGFALS):c.684C>T (p.Asn228=) GRCh37: Chr16:1841735 GRCh38: Chr16:1791734	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31825350.	NM_004970.3(IGFALS):c.777G>A (p.Pro259=) GRCh37: Chr16:1841642 GRCh38: Chr16:1791641	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31825251.	NM_004970.3(IGFALS):c.801G>A (p.Ala267=) GRCh37: Chr16:1841618 GRCh38: Chr16:1791617	IGFALS		Short stature due to primary acid-labile subunit deficiency, not provided	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31825152.	NM_004970.3(IGFALS):c.827A>G (p.Asn276Ser) GRCh37: Chr16:1841592 GRCh38: Chr16:1791591	IGFALS	N276S, N314S	Short stature due to primary acid-labile subunit deficiency	Likely pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31825053.	NM_004970.3(IGFALS):c.861C>T (p.Pro287=) GRCh37: Chr16:1841558 GRCh38: Chr16:1791557	IGFALS		Short stature due to primary acid-labile subunit deficiency, not provided	Conflicting interpretations of pathogenicity (Apr 6, 2018)	criteria provided, conflicting interpretations
Select item 31824954.	NM_004970.3(IGFALS):c.872G>A (p.Gly291Asp) GRCh37: Chr16:1841547 GRCh38: Chr16:1791546	IGFALS	G291D, G329D	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31824855.	NM_004970.3(IGFALS):c.917G>A (p.Arg306Gln) GRCh37: Chr16:1841502 GRCh38: Chr16:1791501	IGFALS	R306Q, R344Q	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31824756.	NM_004970.3(IGFALS):c.920C>T (p.Pro307Leu) GRCh37: Chr16:1841499 GRCh38: Chr16:1791498	IGFALS	P307L, P345L	Short stature due to primary acid-labile subunit deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31824657.	NM_004970.3(IGFALS):c.1031C>T (p.Thr344Met) GRCh37: Chr16:1841388 GRCh38: Chr16:1791387	IGFALS	T344M, T382M	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31824558.	NM_004970.3(IGFALS):c.1065G>A (p.Ala355=) GRCh37: Chr16:1841354 GRCh38: Chr16:1791353	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31824459.	NM_004970.3(IGFALS):c.1173G>A (p.Leu391=) GRCh37: Chr16:1841246 GRCh38: Chr16:1791245	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31824360.	NM_004970.3(IGFALS):c.1195G>A (p.Gly399Arg) GRCh37: Chr16:1841224 GRCh38: Chr16:1791223	IGFALS	G399R, G437R	Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 31824261.	NM_004970.3(IGFALS):c.1266C>T (p.Leu422=) GRCh37: Chr16:1841153 GRCh38: Chr16:1791152	IGFALS		Short stature due to primary acid-labile subunit deficiency, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 31824162.	NM_004970.3(IGFALS):c.1386C>T (p.Tyr462=) GRCh37: Chr16:1841033 GRCh38: Chr16:1791032	IGFALS		Short stature due to primary acid-labile subunit deficiency, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31824063.	NM_004970.3(IGFALS):c.1414G>C (p.Glu472Gln) GRCh37: Chr16:1841005 GRCh38: Chr16:1791004	IGFALS	E472Q, E510Q	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31823964.	NM_004970.3(IGFALS):c.1425G>A (p.Ala475=) GRCh37: Chr16:1840994 GRCh38: Chr16:1790993	IGFALS		Short stature due to primary acid-labile subunit deficiency, not provided	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31823865.	NM_004970.3(IGFALS):c.1466T>C (p.Val489Ala) GRCh37: Chr16:1840953 GRCh38: Chr16:1790952	IGFALS	V489A, V527A	Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31823766.	NM_004970.3(IGFALS):c.1478G>A (p.Arg493His) GRCh37: Chr16:1840941 GRCh38: Chr16:1790940	IGFALS	R493H, R531H	Short stature due to primary acid-labile subunit deficiency, not specified	Uncertain significance (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31823667.	NM_004970.3(IGFALS):c.1566G>A (p.Thr522=) GRCh37: Chr16:1840853 GRCh38: Chr16:1790852	IGFALS		Short stature due to primary acid-labile subunit deficiency	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31823568.	NM_004970.3(IGFALS):c.1642C>T (p.Arg548Trp) GRCh37: Chr16:1840777 GRCh38: Chr16:1790776	IGFALS	R548W, R586W	Short stature due to primary acid-labile subunit deficiency	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31823469.	NM_004970.3(IGFALS):c.1694T>C (p.Ile565Thr) GRCh37: Chr16:1840725 GRCh38: Chr16:1790724	IGFALS	I565T, I603T	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31823370.	NM_004970.3(IGFALS):c.1708G>A (p.Asp570Asn) GRCh37: Chr16:1840711 GRCh38: Chr16:1790710	IGFALS	D570N, D608N	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31823271.	NM_004970.3(IGFALS):c.1724C>T (p.Ala575Val) GRCh37: Chr16:1840695 GRCh38: Chr16:1790694	IGFALS	A575V, A613V	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31823172.	NM_004970.3(IGFALS):c.1795G>A (p.Glu599Lys) GRCh37: Chr16:1840624 GRCh38: Chr16:1790623	IGFALS	E599K, E637K	Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31823073.	NM_004970.3(IGFALS):c.*102C>G GRCh37: Chr16:1840499 GRCh38: Chr16:1790498	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31822974.	NM_004970.3(IGFALS):c.*140C>T GRCh37: Chr16:1840461 GRCh38: Chr16:1790460	IGFALS		Short stature due to primary acid-labile subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31822875.	NM_004970.3(IGFALS):c.*155T>G GRCh37: Chr16:1840446 GRCh38: Chr16:1790445	IGFALS		Short stature due to primary acid-labile subunit deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31822776.	NM_004970.3(IGFALS):c.*175C>T GRCh37: Chr16:1840426 GRCh38: Chr16:1790425	IGFALS		Short stature due to primary acid-labile subunit deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 812977.	NM_004970.3(IGFALS):c.583_591dup (p.Ser195_Arg197dup) GRCh37: Chr16:1841827-1841828 GRCh38: Chr16:1791826-1791827	IGFALS		Short stature due to primary acid-labile subunit deficiency	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 812878.	NM_004970.3(IGFALS):c.1618T>C (p.Cys540Arg) GRCh37: Chr16:1840801 GRCh38: Chr16:1790800	IGFALS	C540R, C578R	Short stature due to primary acid-labile subunit deficiency	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 812779.	NM_004970.3(IGFALS):c.103del (p.Glu35fs) GRCh37: Chr16:1842316 GRCh38: Chr16:1792315	IGFALS	E73fs, E35fs	Short stature due to primary acid-labile subunit deficiency	Pathogenic (Feb 5, 2004)	no assertion criteria provided

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Items: 79