ClinVar for MedGen (Select 934738) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26269901.	NM_006734.4(HIVEP2):c.868G>T (p.Glu290Ter) GRCh37: Chr6:143095008 GRCh38: Chr6:142773871	HIVEP2	E290*	Intellectual disability, autosomal dominant 43	Pathogenic (Jul 19, 2023)	criteria provided, single submitter
Select item 25844562.	NM_006734.4(HIVEP2):c.2925del (p.His975fs) GRCh37: Chr6:143092951 GRCh38: Chr6:142771814	HIVEP2	H975fs	Intellectual disability, autosomal dominant 43	Likely pathogenic	criteria provided, single submitter
Select item 25843863.	NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs) GRCh37: Chr6:143092197-143092198 GRCh38: Chr6:142771060-142771061	HIVEP2	Q1227fs	Intellectual disability, autosomal dominant 43	Likely pathogenic (Sep 4, 2023)	criteria provided, single submitter
Select item 25726144.	NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter) GRCh37: Chr6:143092386 GRCh38: Chr6:142771249	HIVEP2	Q1164*	Intellectual disability, autosomal dominant 43	Likely pathogenic (Jun 6, 2023)	criteria provided, single submitter
Select item 25722215.	NM_006734.4(HIVEP2):c.5188-1del GRCh37: Chr6:143089674 GRCh38: Chr6:142768537	HIVEP2		Intellectual disability, autosomal dominant 43	Likely pathogenic (May 16, 2023)	criteria provided, single submitter
Select item 24995836.	NM_006734.4(HIVEP2):c.117del (p.Phe39fs) GRCh37: Chr6:143095759 GRCh38: Chr6:142774622	HIVEP2	F39fs	Intellectual disability, autosomal dominant 43	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 24324737.	NM_006734.4(HIVEP2):c.1315A>C (p.Ser439Arg) GRCh37: Chr6:143094561 GRCh38: Chr6:142773424	HIVEP2	S439R	Intellectual disability, autosomal dominant 43	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 24324728.	NM_006734.4(HIVEP2):c.1214A>G (p.Glu405Gly) GRCh37: Chr6:143094662 GRCh38: Chr6:142773525	HIVEP2	E405G	Intellectual disability, autosomal dominant 43	Uncertain significance (Feb 2, 2021)	criteria provided, single submitter
Select item 24324719.	NM_006734.4(HIVEP2):c.6266C>T (p.Ser2089Leu) GRCh37: Chr6:143081159 GRCh38: Chr6:142760022	HIVEP2	S2089L	Intellectual disability, autosomal dominant 43	Uncertain significance (Sep 11, 2020)	criteria provided, single submitter
Select item 243247010.	NM_006734.4(HIVEP2):c.1131A>C (p.Lys377Asn) GRCh37: Chr6:143094745 GRCh38: Chr6:142773608	HIVEP2	K377N	Intellectual disability, autosomal dominant 43	Uncertain significance (Mar 27, 2020)	criteria provided, single submitter
Select item 243246911.	NM_006734.4(HIVEP2):c.6257G>A (p.Arg2086Lys) GRCh37: Chr6:143081168 GRCh38: Chr6:142760031	HIVEP2	R2086K	Intellectual disability, autosomal dominant 43	Uncertain significance (Apr 22, 2019)	criteria provided, single submitter
Select item 243246812.	NM_006734.4(HIVEP2):c.6197C>T (p.Pro2066Leu) GRCh37: Chr6:143081228 GRCh38: Chr6:142760091	HIVEP2	P2066L	Intellectual disability, autosomal dominant 43	Uncertain significance (Aug 23, 2019)	criteria provided, single submitter
Select item 243246713.	NM_006734.4(HIVEP2):c.6486G>C (p.Leu2162Phe) GRCh37: Chr6:143080939 GRCh38: Chr6:142759802	HIVEP2	L2162F	Intellectual disability, autosomal dominant 43	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 243246614.	NM_006734.4(HIVEP2):c.1977G>T (p.Arg659Ser) GRCh37: Chr6:143093899 GRCh38: Chr6:142772762	HIVEP2	R659S	Intellectual disability, autosomal dominant 43	Uncertain significance (Apr 10, 2019)	criteria provided, single submitter
Select item 243246515.	NM_006734.4(HIVEP2):c.6062G>A (p.Cys2021Tyr) GRCh37: Chr6:143081363 GRCh38: Chr6:142760226	HIVEP2	C2021Y	Intellectual disability, autosomal dominant 43	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 243246416.	NM_006734.4(HIVEP2):c.6769A>G (p.Met2257Val) GRCh37: Chr6:143074816 GRCh38: Chr6:142753679	HIVEP2	M2257V	Intellectual disability, autosomal dominant 43	Uncertain significance (Jan 12, 2023)	criteria provided, single submitter
Select item 243246317.	NM_006734.4(HIVEP2):c.7056G>A (p.Ala2352=) GRCh37: Chr6:143074529 GRCh38: Chr6:142753392	HIVEP2		Intellectual disability, autosomal dominant 43	Uncertain significance (Dec 14, 2022)	criteria provided, single submitter
Select item 243246218.	NM_006734.4(HIVEP2):c.6517-5C>A GRCh37: Chr6:143075073 GRCh38: Chr6:142753936	HIVEP2		Intellectual disability, autosomal dominant 43	Uncertain significance (Dec 5, 2021)	criteria provided, single submitter
Select item 243246019.	NM_006734.4(HIVEP2):c.193G>C (p.Gly65Arg) GRCh37: Chr6:143095683 GRCh38: Chr6:142774546	HIVEP2	G65R	Intellectual disability, autosomal dominant 43	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 243245920.	NM_006734.4(HIVEP2):c.1781C>T (p.Ala594Val) GRCh37: Chr6:143094095 GRCh38: Chr6:142772958	HIVEP2	A594V	Intellectual disability, autosomal dominant 43	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 243245821.	NM_006734.4(HIVEP2):c.541C>T (p.His181Tyr) GRCh37: Chr6:143095335 GRCh38: Chr6:142774198	HIVEP2	H181Y	Intellectual disability, autosomal dominant 43	Uncertain significance (Jan 14, 2021)	criteria provided, single submitter
Select item 243245722.	NM_006734.4(HIVEP2):c.7019C>T (p.Thr2340Met) GRCh37: Chr6:143074566 GRCh38: Chr6:142753429	HIVEP2	T2340M	Intellectual disability, autosomal dominant 43	Uncertain significance (Jul 27, 2020)	criteria provided, single submitter
Select item 243245623.	NM_006734.4(HIVEP2):c.6104C>T (p.Ser2035Phe) GRCh37: Chr6:143081321 GRCh38: Chr6:142760184	HIVEP2	S2035F	Intellectual disability, autosomal dominant 43	Uncertain significance (Oct 24, 2019)	criteria provided, single submitter
Select item 243245524.	NM_006734.4(HIVEP2):c.987T>G (p.Ile329Met) GRCh37: Chr6:143094889 GRCh38: Chr6:142773752	HIVEP2	I329M	Intellectual disability, autosomal dominant 43	Uncertain significance (Sep 25, 2019)	criteria provided, single submitter
Select item 243245325.	NM_006734.4(HIVEP2):c.3362A>G (p.His1121Arg) GRCh37: Chr6:143092514 GRCh38: Chr6:142771377	HIVEP2	H1121R	Intellectual disability, autosomal dominant 43	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 243245226.	NM_006734.4(HIVEP2):c.2173G>C (p.Ala725Pro) GRCh37: Chr6:143093703 GRCh38: Chr6:142772566	HIVEP2	A725P	Intellectual disability, autosomal dominant 43	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 243245127.	NM_006734.4(HIVEP2):c.330G>A (p.Met110Ile) GRCh37: Chr6:143095546 GRCh38: Chr6:142774409	HIVEP2	M110I	Intellectual disability, autosomal dominant 43	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 243188728.	NM_006734.4(HIVEP2):c.185A>T (p.Gln62Leu) GRCh37: Chr6:143095691 GRCh38: Chr6:142774554	HIVEP2	Q62L	Intellectual disability, autosomal dominant 43	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 243186229.	NM_006734.4(HIVEP2):c.5689T>A (p.Phe1897Ile) GRCh37: Chr6:143081736 GRCh38: Chr6:142760599	HIVEP2	F1897I	Intellectual disability, autosomal dominant 43	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 243157930.	NM_006734.4(HIVEP2):c.307C>T (p.His103Tyr) GRCh37: Chr6:143095569 GRCh38: Chr6:142774432	HIVEP2	H103Y	Intellectual disability, autosomal dominant 43	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 243139431.	NM_006734.4(HIVEP2):c.6058A>C (p.Ser2020Arg) GRCh37: Chr6:143081367 GRCh38: Chr6:142760230	HIVEP2	S2020R	Intellectual disability, autosomal dominant 43	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 218139532.	NM_006734.4(HIVEP2):c.3383C>T (p.Pro1128Leu) GRCh37: Chr6:143092493 GRCh38: Chr6:142771356	HIVEP2	P1128L	not provided, Inborn genetic diseases, Intellectual disability, autosomal dominant 43	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 207428233.	NM_006734.4(HIVEP2):c.1067A>T (p.Asn356Ile) GRCh37: Chr6:143094809 GRCh38: Chr6:142773672	HIVEP2	N356I	Intellectual disability, autosomal dominant 43, not provided	Conflicting interpretations of pathogenicity (May 20, 2022)	criteria provided, conflicting interpretations
Select item 204693634.	NM_006734.4(HIVEP2):c.2740C>G (p.Pro914Ala) GRCh37: Chr6:143093136 GRCh38: Chr6:142771999	HIVEP2	P914A	Intellectual disability, autosomal dominant 43, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 199235035.	NM_006734.4(HIVEP2):c.2367del (p.Gly791fs) GRCh37: Chr6:143093509 GRCh38: Chr6:142772372	HIVEP2	G791fs	Intellectual disability, autosomal dominant 43	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 195555736.	NM_006734.4(HIVEP2):c.5197G>A (p.Asp1733Asn) GRCh37: Chr6:143089664 GRCh38: Chr6:142768527	HIVEP2	D1733N	Intellectual disability, autosomal dominant 43, not provided	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 180622637.	NM_006734.4(HIVEP2):c.4545CTC[1] (p.Ser1517del) GRCh37: Chr6:143091326-143091328 GRCh38: Chr6:142770189-142770191	HIVEP2	S1517del	Intellectual disability, autosomal dominant 43	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 180575438.	NM_006734.4(HIVEP2):c.3956C>T (p.Ala1319Val) GRCh37: Chr6:143091920 GRCh38: Chr6:142770783	HIVEP2	A1319V	Intellectual disability, autosomal dominant 43	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 180568139.	NM_006734.4(HIVEP2):c.2380CCT[1] (p.Pro795del) GRCh37: Chr6:143093491-143093493 GRCh38: Chr6:142772354-142772356	HIVEP2	P795del	Intellectual disability, autosomal dominant 43	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 170172540.	NM_006734.4(HIVEP2):c.-640-49334A>G GRCh37: Chr6:143207518 GRCh38: Chr6:142886381	HIVEP2		Intellectual disability, autosomal dominant 43	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 170170541.	NM_006734.4(HIVEP2):c.6245T>C (p.Leu2082Pro) GRCh37: Chr6:143081180 GRCh38: Chr6:142760043	HIVEP2	L2082P	Intellectual disability, autosomal dominant 43	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 170000542.	NM_006734.4(HIVEP2):c.5856dup (p.Val1953fs) GRCh37: Chr6:143081568-143081569 GRCh38: Chr6:142760431-142760432	HIVEP2	V1953fs	Intellectual disability, autosomal dominant 43	Pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 169939543.	NM_006734.4(HIVEP2):c.4578_4579delinsCA (p.Pro1527Thr) GRCh37: Chr6:143091297-143091298 GRCh38: Chr6:142770160-142770161	HIVEP2	P1527T	Intellectual disability, autosomal dominant 43	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 169876044.	NM_006734.4(HIVEP2):c.4726T>C (p.Ser1576Pro) GRCh37: Chr6:143091150 GRCh38: Chr6:142770013	HIVEP2	S1576P	Intellectual disability, autosomal dominant 43	Uncertain significance (Apr 23, 2020)	criteria provided, single submitter
Select item 169665245.	NM_006734.4(HIVEP2):c.4802A>T (p.His1601Leu) GRCh37: Chr6:143091074 GRCh38: Chr6:142769937	HIVEP2	H1601L	Intellectual disability, autosomal dominant 43	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 169663746.	NM_006734.4(HIVEP2):c.5150A>T (p.Lys1717Met) GRCh37: Chr6:143090726 GRCh38: Chr6:142769589	HIVEP2	K1717M	Intellectual disability, autosomal dominant 43	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 169647947.	NM_006734.4(HIVEP2):c.5456G>A (p.Arg1819His) GRCh37: Chr6:143085998 GRCh38: Chr6:142764861	HIVEP2	R1819H	Intellectual disability, autosomal dominant 43	Uncertain significance (Jun 17, 2021)	criteria provided, single submitter
Select item 168587548.	NM_006734.4(HIVEP2):c.5791dup (p.Thr1931fs) GRCh37: Chr6:143081633-143081634 GRCh38: Chr6:142760496-142760497	HIVEP2	T1931fs	Intellectual disability, autosomal dominant 43	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167979949.	NM_006734.4(HIVEP2):c.1643C>T (p.Thr548Ile) GRCh37: Chr6:143094233 GRCh38: Chr6:142773096	HIVEP2	T548I	not provided, Intellectual disability, autosomal dominant 43	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134256350.	NM_006734.4(HIVEP2):c.230A>C (p.Gln77Pro) GRCh37: Chr6:143095646 GRCh38: Chr6:142774509	HIVEP2	Q77P	Intellectual disability, autosomal dominant 43	Uncertain significance (Apr 30, 2021)	criteria provided, single submitter
Select item 134243651.	NM_006734.4(HIVEP2):c.956T>G (p.Leu319Trp) GRCh37: Chr6:143094920 GRCh38: Chr6:142773783	HIVEP2	L319W	Intellectual disability, autosomal dominant 43	Uncertain significance (Mar 21, 2021)	criteria provided, single submitter
Select item 133588052.	NM_006734.4(HIVEP2):c.5150dup (p.Leu1718fs) GRCh37: Chr6:143090725-143090726 GRCh38: Chr6:142769588-142769589	HIVEP2	L1718fs	Intellectual disability, autosomal dominant 43	not provided	no assertion provided
Select item 133395453.	NM_006734.4(HIVEP2):c.6766C>A (p.Pro2256Thr) GRCh37: Chr6:143074819 GRCh38: Chr6:142753682	HIVEP2	P2256T	Intellectual disability, autosomal dominant 43	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 133395354.	NM_006734.4(HIVEP2):c.3813_3814inv (p.Ala1272Thr) GRCh37: Chr6:143092062-143092063 GRCh38: Chr6:142770925-142770926	HIVEP2	A1272T	not provided, Intellectual disability, autosomal dominant 43	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133024755.	NM_006734.4(HIVEP2):c.875C>T (p.Ser292Phe) GRCh37: Chr6:143095001 GRCh38: Chr6:142773864	HIVEP2	S292F	Intellectual disability, autosomal dominant 43	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 132581056.	NM_006734.4(HIVEP2):c.7072C>T (p.His2358Tyr) GRCh37: Chr6:143074513 GRCh38: Chr6:142753376	HIVEP2	H2358Y	Intellectual disability, autosomal dominant 43	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 131034657.	NM_006734.4(HIVEP2):c.2963C>T (p.Thr988Ile) GRCh37: Chr6:143092913 GRCh38: Chr6:142771776	HIVEP2	T988I	Intellectual disability, autosomal dominant 43, not provided	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 129967658.	NM_006734.4(HIVEP2):c.1418A>T (p.Asp473Val) GRCh37: Chr6:143094458 GRCh38: Chr6:142773321	HIVEP2	D473V	Intellectual disability, autosomal dominant 43	Uncertain significance (Jul 20, 2021)	criteria provided, single submitter
Select item 129958959.	NM_006734.4(HIVEP2):c.3050C>G (p.Ser1017Cys) GRCh37: Chr6:143092826 GRCh38: Chr6:142771689	HIVEP2	S1017C	Intellectual disability, autosomal dominant 43	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 129828960.	NM_006734.4(HIVEP2):c.5890G>T (p.Gly1964Ter) GRCh37: Chr6:143081535 GRCh38: Chr6:142760398	HIVEP2	G1964*	Intellectual disability, autosomal dominant 43	Pathogenic	criteria provided, single submitter
Select item 128534661.	NM_006734.4(HIVEP2):c.4613T>C (p.Leu1538Pro) GRCh37: Chr6:143091263 GRCh38: Chr6:142770126	HIVEP2	L1538P	not provided, Intellectual disability, autosomal dominant 43	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121376762.	NM_006734.4(HIVEP2):c.446G>A (p.Gly149Asp) GRCh37: Chr6:143095430 GRCh38: Chr6:142774293	HIVEP2	G149D	Intellectual disability, autosomal dominant 43, not provided	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 118454763.	NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs) GRCh37: Chr6:143093022-143093023 GRCh38: Chr6:142771885-142771886	HIVEP2	E953fs	Intellectual disability, autosomal dominant 43	Pathogenic	no assertion criteria provided
Select item 103314064.	NM_006734.4(HIVEP2):c.967A>G (p.Met323Val) GRCh37: Chr6:143094909 GRCh38: Chr6:142773772	HIVEP2	M323V	not provided, Inborn genetic diseases, Intellectual disability, autosomal dominant 43	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103313965.	NM_006734.4(HIVEP2):c.4828C>T (p.Arg1610Cys) GRCh37: Chr6:143091048 GRCh38: Chr6:142769911	HIVEP2	R1610C	Intellectual disability, autosomal dominant 43	Uncertain significance (Feb 28, 2018)	criteria provided, single submitter
Select item 103313866.	NM_006734.4(HIVEP2):c.4465C>G (p.Arg1489Gly) GRCh37: Chr6:143091411 GRCh38: Chr6:142770274	HIVEP2	R1489G	not provided, Intellectual disability, autosomal dominant 43	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 103313767.	NM_006734.4(HIVEP2):c.3281A>C (p.Gln1094Pro) GRCh37: Chr6:143092595 GRCh38: Chr6:142771458	HIVEP2	Q1094P	Intellectual disability, autosomal dominant 43	Uncertain significance (May 11, 2018)	criteria provided, single submitter
Select item 103313668.	NM_006734.4(HIVEP2):c.3212C>T (p.Pro1071Leu) GRCh37: Chr6:143092664 GRCh38: Chr6:142771527	HIVEP2	P1071L	Intellectual disability, autosomal dominant 43	Uncertain significance (Aug 9, 2018)	criteria provided, single submitter
Select item 103108469.	NM_006734.4(HIVEP2):c.6277G>A (p.Glu2093Lys) GRCh37: Chr6:143081148 GRCh38: Chr6:142760011	HIVEP2	E2093K	Intellectual disability, autosomal dominant 43	Uncertain significance (Jul 27, 2020)	criteria provided, single submitter
Select item 103108370.	NM_006734.4(HIVEP2):c.4214C>G (p.Pro1405Arg) GRCh37: Chr6:143091662 GRCh38: Chr6:142770525	HIVEP2	P1405R	Intellectual disability, autosomal dominant 43	Uncertain significance (Sep 20, 2020)	criteria provided, single submitter
Select item 103108271.	NM_006734.4(HIVEP2):c.4022A>C (p.His1341Pro) GRCh37: Chr6:143091854 GRCh38: Chr6:142770717	HIVEP2	H1341P	Intellectual disability, autosomal dominant 43	Uncertain significance (Jun 26, 2019)	criteria provided, single submitter
Select item 103108172.	NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile) GRCh37: Chr6:143093720 GRCh38: Chr6:142772583	HIVEP2	T719I	not provided, Intellectual disability, autosomal dominant 43	Conflicting interpretations of pathogenicity (Mar 8, 2023)	criteria provided, conflicting interpretations
Select item 103108073.	NM_006734.4(HIVEP2):c.1913A>G (p.Tyr638Cys) GRCh37: Chr6:143093963 GRCh38: Chr6:142772826	HIVEP2	Y638C	Intellectual disability, autosomal dominant 43	Uncertain significance (Apr 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99688474.	NM_006734.4(HIVEP2):c.4024G>A (p.Val1342Ile) GRCh37: Chr6:143091852 GRCh38: Chr6:142770715	HIVEP2	V1342I	Intellectual disability, autosomal dominant 43	Uncertain significance (Oct 10, 2019)	criteria provided, single submitter
Select item 98485575.	NM_006734.4(HIVEP2):c.4144G>A (p.Ala1382Thr) GRCh37: Chr6:143091732 GRCh38: Chr6:142770595	HIVEP2	A1382T	Intellectual disability, autosomal dominant 43	Uncertain significance (Feb 18, 2019)	no assertion criteria provided
Select item 98485476.	NM_006734.4(HIVEP2):c.6698G>A (p.Gly2233Glu) GRCh37: Chr6:143074887 GRCh38: Chr6:142753750	HIVEP2	G2233E	not provided	Uncertain significance (Feb 21, 2023)	criteria provided, single submitter
Select item 98480777.	NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter) GRCh37: Chr6:143081739 GRCh38: Chr6:142760602	HIVEP2	Q1896*	Intellectual disability, autosomal dominant 43	Pathogenic (Oct 24, 2016)	no assertion criteria provided
Select item 98476078.	NM_006734.4(HIVEP2):c.5620+1GT[2] GRCh37: Chr6:143082595-143082596 GRCh38: Chr6:142761458-142761459	HIVEP2		Intellectual disability, autosomal dominant 43	Likely pathogenic (Nov 12, 2018)	no assertion criteria provided
Select item 98290479.	NM_006734.4(HIVEP2):c.1339C>T (p.Arg447Cys) GRCh37: Chr6:143094537 GRCh38: Chr6:142773400	HIVEP2	R447C	Intellectual disability, autosomal dominant 43, not provided	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98288380.	NM_006734.4(HIVEP2):c.3064C>T (p.His1022Tyr) GRCh37: Chr6:143092812 GRCh38: Chr6:142771675	HIVEP2	H1022Y	Intellectual disability, autosomal dominant 43	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97811281.	NM_006734.4(HIVEP2):c.4276C>T (p.Pro1426Ser) GRCh37: Chr6:143091600 GRCh38: Chr6:142770463	HIVEP2	P1426S	Intellectual disability, autosomal dominant 43, Inborn genetic diseases, Intellectual disability	Conflicting interpretations of pathogenicity (Jan 3, 2022)	criteria provided, conflicting interpretations
Select item 93201882.	NM_006734.4(HIVEP2):c.4781T>A (p.Leu1594Gln) GRCh37: Chr6:143091095 GRCh38: Chr6:142769958	HIVEP2	L1594Q	Intellectual disability, autosomal dominant 43	Uncertain significance (Mar 24, 2019)	criteria provided, single submitter
Select item 93182983.	NM_006734.4(HIVEP2):c.7310A>C (p.Asp2437Ala) GRCh37: Chr6:143074275 GRCh38: Chr6:142753138	HIVEP2	D2437A	Intellectual disability, autosomal dominant 43, not provided	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93168284.	NM_006734.4(HIVEP2):c.3730A>G (p.Lys1244Glu) GRCh37: Chr6:143092146 GRCh38: Chr6:142771009	HIVEP2	K1244E	Intellectual disability, autosomal dominant 43, not provided	Conflicting interpretations of pathogenicity (Oct 2, 2022)	criteria provided, conflicting interpretations
Select item 93101785.	NM_006734.4(HIVEP2):c.601C>A (p.Pro201Thr) GRCh37: Chr6:143095275 GRCh38: Chr6:142774138	HIVEP2	P201T	Intellectual disability, autosomal dominant 43	Uncertain significance (Jan 8, 2020)	criteria provided, single submitter
Select item 93059186.	NM_006734.4(HIVEP2):c.1505C>G (p.Ser502Cys) GRCh37: Chr6:143094371 GRCh38: Chr6:142773234	HIVEP2	S502C	Intellectual disability, autosomal dominant 43	Uncertain significance (Oct 3, 2019)	criteria provided, single submitter
Select item 78586987.	NM_006734.4(HIVEP2):c.4140C>T (p.Thr1380=) GRCh37: Chr6:143091736 GRCh38: Chr6:142770599	HIVEP2		Intellectual disability, autosomal dominant 43, not provided	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 78580688.	NM_006734.4(HIVEP2):c.6884C>T (p.Pro2295Leu) GRCh37: Chr6:143074701 GRCh38: Chr6:142753564	HIVEP2	P2295L	Intellectual disability, autosomal dominant 43, not provided, Inborn genetic diseases	Likely benign (May 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 78519089.	NM_006734.4(HIVEP2):c.5397C>T (p.Tyr1799=) GRCh37: Chr6:143086057 GRCh38: Chr6:142764920	HIVEP2		Intellectual disability, autosomal dominant 43, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74303290.	NM_006734.4(HIVEP2):c.2367A>G (p.Leu789=) GRCh37: Chr6:143093509 GRCh38: Chr6:142772372	HIVEP2		not provided, Intellectual disability, autosomal dominant 43	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71828291.	NM_006734.4(HIVEP2):c.7069C>T (p.Pro2357Ser) GRCh37: Chr6:143074516 GRCh38: Chr6:142753379	HIVEP2	P2357S	Intellectual disability, autosomal dominant 43, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 71432292.	NM_006734.4(HIVEP2):c.5583A>G (p.Ser1861=) GRCh37: Chr6:143082638 GRCh38: Chr6:142761501	HIVEP2		Intellectual disability, autosomal dominant 43, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71099593.	NM_006734.4(HIVEP2):c.4293C>T (p.Ser1431=) GRCh37: Chr6:143091583 GRCh38: Chr6:142770446	HIVEP2		not provided, Intellectual disability, autosomal dominant 43	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62025994.	NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter) GRCh37: Chr6:143092134 GRCh38: Chr6:142770997	HIVEP2	Q1248*	not provided	Pathogenic (Jul 13, 2018)	criteria provided, single submitter
Select item 62022695.	NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter) GRCh37: Chr6:143074918 GRCh38: Chr6:142753781	HIVEP2	R2223*	not provided	Pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 62005196.	NM_006734.4(HIVEP2):c.3461_3492dup (p.Glu1165fs) GRCh37: Chr6:143092383-143092384 GRCh38: Chr6:142771246-142771247	HIVEP2	E1165fs	Intellectual disability, autosomal dominant 43	Pathogenic (Mar 10, 2017)	criteria provided, single submitter
Select item 52377597.	NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter) GRCh37: Chr6:143081490 GRCh38: Chr6:142760353	HIVEP2	R1979*	not provided, Angelman syndrome-like	Pathogenic (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52098698.	NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter) GRCh37: Chr6:143074621 GRCh38: Chr6:142753484	HIVEP2	Q2322*	Inborn genetic diseases	Pathogenic (Mar 11, 2016)	criteria provided, single submitter
Select item 42283799.	NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs) GRCh37: Chr6:143081525 GRCh38: Chr6:142760388	HIVEP2	S1967fs	not provided	Pathogenic (Dec 21, 2016)	criteria provided, single submitter
Select item 402939100.	NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=) GRCh37: Chr6:143074700 GRCh38: Chr6:142753563	HIVEP2		not specified, Intellectual disability, autosomal dominant 43, not provided	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts

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