ClinVar for MedGen (Select 483052) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3764070	NM_139058.3(ARX):c.768C>T (p.Ala256=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3764051	NM_139058.3(ARX):c.70C>T (p.Leu24Phe)	ARX (L24F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3763782	NM_016373.4(WWOX):c.1056+8A>T	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3763170	NM_016373.4(WWOX):c.791+18A>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3763079	NM_016373.4(WWOX):c.1053C>T (p.Ser351=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3762814	NM_001199107.2(TBC1D24):c.675C>T (p.Phe225=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3762767	NM_001199107.2(TBC1D24):c.1143-4C>A	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3762670	NM_016373.4(WWOX):c.808_811dup (p.Ser271Ter)	WWOX (S158* +1 more)	Duplication (nonsense)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 3762615	NM_139058.3(ARX):c.1440A>T (p.Ala480=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3762613	NM_139058.3(ARX):c.531G>A (p.Glu177=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3762351	NM_001199107.2(TBC1D24):c.225C>A (p.Ser75Arg)	TBC1D24 (S75R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3761936	NM_016373.4(WWOX):c.1056+18G>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3761614	NM_139058.3(ARX):c.816C>A (p.Gly272=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3761613	NM_139058.3(ARX):c.1284C>G (p.Ser428=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3761420	NM_016373.4(WWOX):c.791+1G>C	WWOX	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely pathogenic
Select item 3760552	NM_016373.4(WWOX):c.1164T>G (p.Ala388=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3760256	NM_016373.4(WWOX):c.606-18G>A	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3760255	NM_139058.3(ARX):c.375C>G (p.Ala125=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3759792	NM_001199107.2(TBC1D24):c.1329G>A (p.Glu443=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3759530	NM_016373.4(WWOX):c.792-20T>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3759439	NM_139058.3(ARX):c.1551G>A (p.Leu517=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3759338	NM_001199107.2(TBC1D24):c.1384del (p.Glu462fs)	TBC1D24 (E456fs +1 more)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 3759260	NM_016373.4(WWOX):c.107+8G>A	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3759160	NM_001199107.2(TBC1D24):c.714G>C (p.Lys238Asn)	TBC1D24 (K238N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3759159	NM_001199107.2(TBC1D24):c.944G>A (p.Gly315Asp)	TBC1D24 (G315D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3759158	NM_001199107.2(TBC1D24):c.1555G>T (p.Asp519Tyr)	TBC1D24 (D513Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3759157	NM_001199107.2(TBC1D24):c.463G>C (p.Ala155Pro)	TBC1D24 (A155P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3759012	NM_001199107.2(TBC1D24):c.1203G>A (p.Lys401=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3758998	NM_001199107.2(TBC1D24):c.469C>T (p.Arg157Cys)	TBC1D24 (R157C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3758650	NM_001199107.2(TBC1D24):c.1206+9G>C	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3758493	NM_139058.3(ARX):c.596C>T (p.Thr199Met)	ARX (T199M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3758462	NM_139058.3(ARX):c.451_465dup (p.Ala155_Trp156insAlaAlaAlaAlaAla)	ARX, LOC109610631	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3758348	NM_016373.4(WWOX):c.706C>G (p.His236Asp)	WWOX (H123D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 3758347	NM_016373.4(WWOX):c.701T>C (p.Leu234Pro)	WWOX (L121P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 3758125	NM_016373.4(WWOX):c.1190T>G (p.Leu397Arg)	MAF, WWOX (L284R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 3757896	NM_016373.4(WWOX):c.96T>G (p.Val32=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3757894	NM_001199107.2(TBC1D24):c.966-10T>C	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3757806	NM_001199107.2(TBC1D24):c.317T>C (p.Leu106Pro)	TBC1D24 (L106P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3757547	NM_139058.3(ARX):c.837C>A (p.Ala279=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3757157	NM_139058.3(ARX):c.303_341dup (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	ARX, LOC109610631	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3757153	NM_001199107.2(TBC1D24):c.1579A>G (p.Thr527Ala)	TBC1D24 (T521A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +3 more	GUncertain significance
Select item 3757088	NM_139058.3(ARX):c.997A>G (p.Thr333Ala)	ARX (T333A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3756852	NM_001199107.2(TBC1D24):c.1526-1G>T	TBC1D24	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3756846	NM_001199107.2(TBC1D24):c.1235G>A (p.Trp412Ter)	TBC1D24 (W406* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 3756670	NM_016373.4(WWOX):c.66_107+82delinsC	WWOX	Indel (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely pathogenic
Select item 3756664	NM_001199107.2(TBC1D24):c.346A>G (p.Lys116Glu)	TBC1D24 (K116E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3756657	NM_001199107.2(TBC1D24):c.1470G>T (p.Leu490=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3756655	NM_016373.4(WWOX):c.1062G>A (p.Gln354=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3756479	NM_001199107.2(TBC1D24):c.1481C>G (p.Thr494Ser)	TBC1D24 (T488S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3756379	NM_016373.4(WWOX):c.108-18T>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3756185	NM_139058.3(ARX):c.422_454dup (p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaAlaAlaAla)	ARX, LOC109610631	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 3756160	NM_139058.3(ARX):c.1627G>T (p.Ala543Ser)	ARX (A543S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3755880	NM_139058.3(ARX):c.547G>T (p.Val183Leu)	ARX (V183L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3755859	NM_016373.4(WWOX):c.173-16C>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3755496	NM_139058.3(ARX):c.114G>C (p.Pro38=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3755417	NM_139058.3(ARX):c.1572C>G (p.Ala524=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3755060	NM_001199107.2(TBC1D24):c.1143-4C>T	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3754878	NM_139058.3(ARX):c.196+14C>T	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3754312	NM_016373.4(WWOX):c.409+9T>A	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3754239	NM_001199107.2(TBC1D24):c.1450G>A (p.Ala484Thr)	TBC1D24 (A478T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3753789	NM_139058.3(ARX):c.88G>A (p.Asp30Asn)	ARX (D30N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3753788	NM_139058.3(ARX):c.190G>T (p.Val64Leu)	ARX (V64L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3753787	NM_139058.3(ARX):c.220C>A (p.Pro74Thr)	ARX (P74T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3753786	NM_139058.3(ARX):c.229G>T (p.Ala77Ser)	ARX (A77S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3753785	NM_139058.3(ARX):c.665G>C (p.Gly222Ala)	ARX (G222A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3753784	NM_139058.3(ARX):c.1559C>G (p.Pro520Arg)	ARX (P520R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3753513	NM_001199107.2(TBC1D24):c.1472C>T (p.Pro491Leu)	TBC1D24 (P485L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3753121	NM_001199107.2(TBC1D24):c.445dup (p.Ala149fs)	TBC1D24 (A149fs)	Duplication (frameshift variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3753089	NM_016373.4(WWOX):c.107+2T>G	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely pathogenic
Select item 3753073	NM_016373.4(WWOX):c.351C>T (p.Leu117=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3752911	NM_001199107.2(TBC1D24):c.206C>G (p.Pro69Arg)	TBC1D24 (P69R)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3752876	NM_001199107.2(TBC1D24):c.1452C>T (p.Ala484=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 3752389	NM_016373.4(WWOX):c.43G>C (p.Glu15Gln)	WWOX (E15Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 3752347	NM_001199107.2(TBC1D24):c.500G>C (p.Arg167Thr)	TBC1D24 (R167T)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3752272	NM_001199107.2(TBC1D24):c.837G>T (p.Thr279=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 3751925	NM_001199107.2(TBC1D24):c.771G>A (p.Gly257=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 3751850	NM_016373.4(WWOX):c.792-19C>T	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3751843	NM_001199107.2(TBC1D24):c.1409C>T (p.Ser470Phe)	TBC1D24 (S464F +1 more)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3751561	NM_016373.4(WWOX):c.252C>G (p.Thr84=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3751177	NM_016373.4(WWOX):c.624G>A (p.Val208=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3751169	NM_016373.4(WWOX):c.378G>C (p.Val126=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3751116	NM_001199107.2(TBC1D24):c.1674C>A (p.Thr558=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3750987	NM_016373.4(WWOX):c.1057-10G>T	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3750821	NM_139058.3(ARX):c.1448+14T>A	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3750820	NM_001199107.2(TBC1D24):c.293A>C (p.Asn98Thr)	TBC1D24 (N98T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3750806	NM_001199107.2(TBC1D24):c.543G>A (p.Met181Ile)	TBC1D24 (M181I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3750797	NM_016373.4(WWOX):c.517-7A>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3750721	NM_016373.4(WWOX):c.544C>T (p.Leu182=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3750690	NM_139058.3(ARX):c.1644G>A (p.Gln548=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3750451	NM_001199107.2(TBC1D24):c.1320G>T (p.Gln440His)	TBC1D24 (Q434H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3750332	NM_001199107.2(TBC1D24):c.428A>C (p.His143Pro)	TBC1D24 (H143P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3750301	NM_001199107.2(TBC1D24):c.147C>G (p.Ala49=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 3750294	NM_139058.3(ARX):c.38G>A (p.Arg13Lys)	ARX (R13K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3750273	NM_139058.3(ARX):c.1074-18T>C	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3750186	NM_016373.4(WWOX):c.573G>A (p.Gln191=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3749777	NM_139058.3(ARX):c.172G>A (p.Ala58Thr)	ARX (A58T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3749755	NM_016373.4(WWOX):c.6A>G (p.Ala2=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3749651	NM_139058.3(ARX):c.857G>A (p.Gly286Asp)	ARX (G286D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3749628	NM_016373.4(WWOX):c.114C>G (p.Thr38=)	WWOX	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 3749580	NM_001199107.2(TBC1D24):c.1641C>G (p.Ala547=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign

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