ClinVar for MedGen (Select 1622162) - ClinVar

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Items: 38

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25765681.	NM_138615.3(DHX30):c.2335C>T (p.Arg779Cys) GRCh37: Chr3:47889718 GRCh38: Chr3:47848228	DHX30	R740C, R751C, R779C	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Jun 13, 2023)	criteria provided, single submitter
Select item 24441272.	NM_138615.3(DHX30):c.2345G>C (p.Arg782Pro) GRCh37: Chr3:47889728 GRCh38: Chr3:47848238	DHX30	R743P, R754P, R782P	Neurodevelopmental disorder with severe motor impairment and absent language	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24439763.	NM_138615.3(DHX30):c.2389C>T (p.Arg797Ter) GRCh37: Chr3:47889772 GRCh38: Chr3:47848282	DHX30	R797, R758, R769*	Neurodevelopmental disorder with severe motor impairment and absent language	Pathogenic (Feb 27, 2023)	no assertion criteria provided
Select item 24407784.	NM_138615.3(DHX30):c.509C>G (p.Pro170Arg) GRCh37: Chr3:47882509 GRCh38: Chr3:47841019	DHX30	P131R, P142R, P170R	Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 29, 2023)	criteria provided, conflicting interpretations
Select item 24407775.	NM_138615.3(DHX30):c.73C>T (p.Arg25Cys) GRCh37: Chr3:47859556 GRCh38: Chr3:47818066	DHX30	R25C	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Sep 23, 2021)	criteria provided, single submitter
Select item 24407766.	NM_138615.3(DHX30):c.1624C>T (p.Arg542Cys) GRCh37: Chr3:47888186 GRCh38: Chr3:47846696	DHX30	R503C, R514C, R542C	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Mar 28, 2020)	criteria provided, single submitter
Select item 24407757.	NM_138615.3(DHX30):c.1109C>T (p.Ser370Leu) GRCh37: Chr3:47887671 GRCh38: Chr3:47846181	DHX30	S331L, S342L, S370L	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Nov 24, 2022)	criteria provided, single submitter
Select item 24407748.	NM_138615.3(DHX30):c.270C>A (p.His90Gln) GRCh37: Chr3:47870528 GRCh38: Chr3:47829038	DHX30	H51Q, H62Q, H90Q	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Jan 7, 2021)	criteria provided, single submitter
Select item 24407739.	NM_138615.3(DHX30):c.1666G>A (p.Val556Ile) GRCh37: Chr3:47888228 GRCh38: Chr3:47846738	DHX30	V517I, V528I, V556I	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Oct 25, 2019)	criteria provided, single submitter
Select item 244077110.	NM_138615.3(DHX30):c.577G>A (p.Glu193Lys) GRCh37: Chr3:47882577 GRCh38: Chr3:47841087	DHX30	E154K, E165K, E193K	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 244077011.	NM_138615.3(DHX30):c.1948C>T (p.Leu650Phe) GRCh37: Chr3:47888781 GRCh38: Chr3:47847291	DHX30	L611F, L622F, L650F	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 244076912.	NM_138615.3(DHX30):c.2245A>G (p.Ser749Gly) GRCh37: Chr3:47889405 GRCh38: Chr3:47847915	DHX30	S710G, S721G, S749G	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 244076813.	NM_138615.3(DHX30):c.3403G>A (p.Val1135Met) GRCh37: Chr3:47891428 GRCh38: Chr3:47849938	DHX30	V1096M, V1107M, V1135M	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 244076714.	NM_138615.3(DHX30):c.3287C>T (p.Pro1096Leu) GRCh37: Chr3:47891215 GRCh38: Chr3:47849725	DHX30	P1057L, P1068L, P1096L	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Jan 5, 2021)	criteria provided, single submitter
Select item 243192515.	NM_138615.3(DHX30):c.2493+19G>T GRCh37: Chr3:47889895 GRCh38: Chr3:47848405	DHX30		Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 187860716.	NM_138615.3(DHX30):c.3407G>A (p.Arg1136Gln) GRCh37: Chr3:47891432 GRCh38: Chr3:47849942	DHX30	R1097Q, R1108Q, R1136Q	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance	criteria provided, single submitter
Select item 187859917.	NM_138615.3(DHX30):c.3379C>T (p.Arg1127Trp) GRCh37: Chr3:47891404 GRCh38: Chr3:47849914	DHX30	R1088W, R1099W, R1127W	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance	criteria provided, single submitter
Select item 168374218.	NM_138615.3(DHX30):c.1028G>A (p.Arg343His) GRCh37: Chr3:47887278 GRCh38: Chr3:47845788	DHX30	R304H, R315H, R343H	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 167977319.	NM_138615.3(DHX30):c.618C>A (p.Asp206Glu) GRCh37: Chr3:47882618 GRCh38: Chr3:47841128	DHX30	D167E, D178E, D206E	Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language	Conflicting interpretations of pathogenicity (Dec 19, 2022)	criteria provided, conflicting interpretations
Select item 134234820.	NM_138615.3(DHX30):c.2134G>A (p.Asp712Asn) GRCh37: Chr3:47889294 GRCh38: Chr3:47847804	DHX30	D673N, D684N, D712N	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Mar 24, 2021)	criteria provided, single submitter
Select item 134191321.	NM_138615.3(DHX30):c.1237C>T (p.Leu413Phe) GRCh37: Chr3:47887799 GRCh38: Chr3:47846309	DHX30	L374F, L385F, L413F	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (May 15, 2020)	criteria provided, single submitter
Select item 134187822.	NM_138615.3(DHX30):c.2575+2dup GRCh37: Chr3:47890041-47890042 GRCh38: Chr3:47848551-47848552	DHX30		Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Feb 9, 2021)	criteria provided, single submitter
Select item 133030523.	NM_138615.3(DHX30):c.2345G>A (p.Arg782Gln) GRCh37: Chr3:47889728 GRCh38: Chr3:47848238	DHX30	R743Q, R754Q, R782Q	Neurodevelopmental disorder with severe motor impairment and absent language	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 130575224.	NM_138615.3(DHX30):c.2099T>G (p.Leu700Arg) GRCh37: Chr3:47889015 GRCh38: Chr3:47847525	DHX30	L661R, L672R, L700R	Neurodevelopmental disorder with severe motor impairment and absent language, not provided	Uncertain significance (Jun 5, 2020)	criteria provided, multiple submitters, no conflicts
Select item 128540825.	NM_138615.3(DHX30):c.3523C>G (p.Leu1175Val) GRCh37: Chr3:47891548 GRCh38: Chr3:47850058	DHX30	L1136V, L1147V, L1175V	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Oct 14, 2020)	criteria provided, single submitter
Select item 121381326.	NM_138615.3(DHX30):c.2845G>T (p.Val949Leu) GRCh37: Chr3:47890485 GRCh38: Chr3:47848995	DHX30	V910L, V921L, V949L	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Sep 23, 2020)	criteria provided, single submitter
Select item 102913527.	NM_138615.3(DHX30):c.2006-6T>C GRCh37: Chr3:47888916 GRCh38: Chr3:47847426	DHX30		Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Nov 7, 2019)	criteria provided, single submitter
Select item 93167528.	NM_138615.3(DHX30):c.1384G>A (p.Gly462Arg) GRCh37: Chr3:47887946 GRCh38: Chr3:47846456	DHX30	G462R, G423R, G434R	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Aug 14, 2019)	criteria provided, single submitter
Select item 91535029.	NM_138615.3(DHX30):c.1352C>T (p.Pro451Leu) GRCh37: Chr3:47887914 GRCh38: Chr3:47846424	DHX30	P423L, P451L, P412L	Neurodevelopmental disorder with severe motor impairment and absent language, not provided	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80196430.	NM_138615.3(DHX30):c.1390A>G (p.Thr464Ala) GRCh37: Chr3:47887952 GRCh38: Chr3:47846462	DHX30	T425A, T464A, T436A	Neurodevelopmental disorder with severe motor impairment and absent language	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 63852831.	NM_138615.3(DHX30):c.1867C>A (p.Leu623Ile) GRCh37: Chr3:47888429 GRCh38: Chr3:47846939	DHX30	L623I, L595I, L584I	Neurodevelopmental disorder with severe motor impairment and absent language	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 52323332.	NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln) GRCh37: Chr3:47890261 GRCh38: Chr3:47848771	DHX30	R869Q, R908Q, R880Q	Neurodevelopmental disorder with severe motor impairment and absent language, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2019)	criteria provided, conflicting interpretations
Select item 45327233.	NM_138615.3(DHX30):c.2354G>A (p.Arg785His) GRCh37: Chr3:47889737 GRCh38: Chr3:47848247	DHX30	R785H, R757H, R746H	Inborn genetic diseases	Likely pathogenic (Dec 4, 2017)	criteria provided, single submitter
Select item 45326934.	NM_138615.3(DHX30):c.2342G>A (p.Gly781Asp) GRCh37: Chr3:47889725 GRCh38: Chr3:47848235	DHX30	G781D, G742D, G753D	Neurodevelopmental disorder with severe motor impairment and absent language	Pathogenic (Feb 27, 2023)	no assertion criteria provided
Select item 42611135.	NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) GRCh37: Chr3:47889736 GRCh38: Chr3:47848246	DHX30	R746C, R757C, R785C	Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language, not provided	Pathogenic/Likely pathogenic (Sep 28, 2018)	criteria provided, multiple submitters, no conflicts
Select item 40213036.	NM_138615.3(DHX30):c.1685A>G (p.His562Arg) GRCh37: Chr3:47888247 GRCh38: Chr3:47846757	DHX30	H562R, H523R, H534R	Global developmental delay, Axial hypotonia, Strabismus, Delayed speech and language development, Microcephaly, Hearing impairment, Sleep abnormality	Pathogenic	criteria provided, single submitter
Select item 37537437.	NM_138615.3(DHX30):c.1478G>A (p.Arg493His) GRCh37: Chr3:47888040 GRCh38: Chr3:47846550	DHX30	R493H, R454H, R465H	Neurodevelopmental disorder with severe motor impairment and absent language, Microcephaly, Strabismus, Unsteady gait, Seizure, Short stature, Oculomotor apraxia, not provided	Pathogenic (Feb 27, 2023)	no assertion criteria provided
Select item 37537338.	NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) GRCh37: Chr3:47889727 GRCh38: Chr3:47848237	DHX30	R782W, R743W, R754W	Neurodevelopmental disorder with severe motor impairment and absent language, not provided	Pathogenic (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 38