GJB4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 1247767	NM_153212.3(GJB4):c.-322-278T>C	GJB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3064469	NM_153212.3(GJB4):c.1del (p.Met1*)	GJB4	Deletion (nonsense +1 more)	Erythrokeratodermia variabilis et progressiva 2	GUncertain significance
Select item 2596632	NM_153212.3(GJB4):c.7T>C (p.Trp3Arg)	GJB4 (W3R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5007	NM_153212.3(GJB4):c.35G>A (p.Gly12Asp)	GJB4 (G12D)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 2 +1 more	GPathogenic
Select item 2147788	NM_153212.3(GJB4):c.37G>A (p.Val13Met)	GJB4 (V13M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2812708	NM_153212.3(GJB4):c.50_151del (p.Ser17_Asp50del)	GJB4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2234194	NM_153212.3(GJB4):c.62G>A (p.Ser21Asn)	GJB4 (S21N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3340337	NM_153212.3(GJB4):c.64C>T (p.Arg22Cys)	GJB4 (R22C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5008	NM_153212.3(GJB4):c.65G>A (p.Arg22His)	GJB4 (R22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099977	NM_153212.3(GJB4):c.69C>G (p.Ile23Met)	GJB4 (I23M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526224	NM_153212.3(GJB4):c.89T>C (p.Ile30Thr)	GJB4 (I30T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2886525	NM_153212.3(GJB4):c.94C>T (p.Arg32Cys)	GJB4 (R32C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281453	NM_153212.3(GJB4):c.95G>C (p.Arg32Pro)	GJB4 (R32P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173776	NM_153212.3(GJB4):c.98T>C (p.Val33Ala)	GJB4 (V33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710496	NM_153212.3(GJB4):c.108C>T (p.Tyr36=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 225376	NM_153212.3(GJB4):c.109G>A (p.Val37Met)	GJB4 (V37M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2638640	NM_153212.3(GJB4):c.120G>A (p.Ala40=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507391	NM_153212.3(GJB4):c.121G>A (p.Glu41Lys)	GJB4 (E41K)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 2	GUncertain significance
Select item 1723469	NM_153212.3(GJB4):c.128T>C (p.Val43Ala)	GJB4 (V43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780229	NM_153212.3(GJB4):c.138T>C (p.Asp46=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2393639	NM_153212.3(GJB4):c.139G>A (p.Glu47Lys)	GJB4 (E47K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 195421	NM_153212.3(GJB4):c.153del (p.Phe51fs)	GJB4 (F51fs)	Deletion (frameshift variant)	Erythrokeratodermia variabilis et progressiva 2 +2 more	GBenign/Likely benign
Select item 1276227	NM_153212.3(GJB4):c.155_158del (p.Val52fs)	GJB4 (V52fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2499208	NM_153212.3(GJB4):c.154G>A (p.Val52Ile)	GJB4 (V52I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281460	NM_153212.3(GJB4):c.155T>C (p.Val52Ala)	GJB4 (V52A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1608519	NM_153212.3(GJB4):c.178T>G (p.Cys60Gly)	GJB4 (C60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 791789	NM_153212.3(GJB4):c.183C>A (p.Pro61=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1250735	NM_153212.3(GJB4):c.186C>T (p.Asn62=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2414795	NM_153212.3(GJB4):c.187G>A (p.Val63Ile)	GJB4 (V63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780230	NM_153212.3(GJB4):c.207C>G (p.Phe69Leu)	GJB4 (F69L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1485338	NM_153212.3(GJB4):c.215C>T (p.Ser72Phe)	GJB4 (S72F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281457	NM_153212.3(GJB4):c.219C>G (p.His73Gln)	GJB4 (H73Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709647	NM_153212.3(GJB4):c.219C>T (p.His73=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3099972	NM_153212.3(GJB4):c.223C>A (p.Arg75Ser)	GJB4 (R75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733213	NM_153212.3(GJB4):c.223C>T (p.Arg75Cys)	GJB4 (R75C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782907	NM_153212.3(GJB4):c.224G>A (p.Arg75His)	GJB4 (R75H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711824	NM_153212.3(GJB4):c.228C>G (p.Leu76=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783282	NM_153212.3(GJB4):c.238C>T (p.Gln80Ter)	GJB4 (Q80*)	Single nucleotide variant (nonsense)	not provided +1 more	GBenign/Likely benign
Select item 2979667	NM_153212.3(GJB4):c.250G>T (p.Val84Phe)	GJB4 (V84F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5006	NM_153212.3(GJB4):c.253A>C (p.Thr85Pro)	GJB4 (T85P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2722640	NM_153212.3(GJB4):c.283G>A (p.Val95Met)	GJB4 (V95M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303140	NM_153212.3(GJB4):c.292C>T (p.Arg98Cys)	GJB4 (R98C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3099973	NM_153212.3(GJB4):c.293G>A (p.Arg98His)	GJB4 (R98H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920395	NM_153212.3(GJB4):c.294C>T (p.Arg98=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780231	NM_153212.3(GJB4):c.303C>G (p.Arg101=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2353756	NM_153212.3(GJB4):c.304G>A (p.Glu102Lys)	GJB4 (E102K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1614918	NM_153212.3(GJB4):c.307C>T (p.Arg103Cys)	GJB4 (R103C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3281459	NM_153212.3(GJB4):c.308G>C (p.Arg103Pro)	GJB4 (R103P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454878	NM_153212.3(GJB4):c.314A>G (p.His105Arg)	GJB4 (H105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052670	NM_153212.3(GJB4):c.330G>A (p.Gly110=)	GJB4	Single nucleotide variant (synonymous variant)	GJB4-related disorder	GLikely benign
Select item 3281456	NM_153212.3(GJB4):c.341C>T (p.Pro114Leu)	GJB4 (P114L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777074	NM_153212.3(GJB4):c.369G>A (p.Lys123=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1019551	NM_153212.3(GJB4):c.370C>T (p.Arg124Trp)	GJB4 (R124W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713645	NM_153212.3(GJB4):c.371G>A (p.Arg124Gln)	GJB4 (R124Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774579	NM_153212.3(GJB4):c.384G>A (p.Trp128Ter)	GJB4 (W128*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 522773	NM_153212.3(GJB4):c.386G>A (p.Trp129Ter)	GJB4 (W129*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 5004	NM_153212.3(GJB4):c.409T>C (p.Phe137Leu)	GJB4 (F137L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 726750	NM_153212.3(GJB4):c.411C>T (p.Phe137=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5005	NM_153212.3(GJB4):c.411C>A (p.Phe137Leu)	GJB4 (F137L)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 2	GPathogenic
Select item 759250	NM_153212.3(GJB4):c.417C>T (p.Ala139=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281454	NM_153212.3(GJB4):c.418G>A (p.Ala140Thr)	GJB4 (A140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368754	NM_153212.3(GJB4):c.431G>T (p.Gly144Val)	GJB4 (G144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1545331	NM_153212.3(GJB4):c.435C>T (p.Phe145=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609441	NM_153212.3(GJB4):c.449A>G (p.His150Arg)	GJB4 (H150R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1236755	NM_153212.3(GJB4):c.451C>A (p.Arg151Ser)	GJB4 (R151S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2136097	NM_153212.3(GJB4):c.479G>A (p.Arg160His)	GJB4 (R160H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 754072	NM_153212.3(GJB4):c.480C>T (p.Arg160=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2396680	NM_153212.3(GJB4):c.484G>A (p.Val162Met)	GJB4 (V162M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 195418	NM_153212.3(GJB4):c.495C>T (p.Ser165=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2550062	NM_153212.3(GJB4):c.496G>A (p.Val166Met)	GJB4 (V166M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068622	NM_153212.3(GJB4):c.507C>A (p.Cys169Ter)	GJB4 (C169*)	Single nucleotide variant (nonsense)	Erythrokeratodermia variabilis et progressiva 2	GUncertain significance
Select item 252789	NM_153212.3(GJB4):c.507C>G (p.Cys169Trp)	GJB4 (C169W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3099974	NM_153212.3(GJB4):c.508C>T (p.Pro170Ser)	GJB4 (P170S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378893	NM_153212.3(GJB4):c.509C>T (p.Pro170Leu)	GJB4 (P170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2978052	NM_153212.3(GJB4):c.511C>A (p.His171Asn)	GJB4 (H171N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780232	NM_153212.3(GJB4):c.516T>C (p.Thr172=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3281458	NM_153212.3(GJB4):c.538C>T (p.Pro180Ser)	GJB4 (P180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1548192	NM_153212.3(GJB4):c.542C>T (p.Thr181Met)	GJB4 (T181M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2324651	NM_153212.3(GJB4):c.552G>T (p.Lys184Asn)	GJB4 (K184N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5009	NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr)	GJB4 (F189Y)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 2	GPathogenic
Select item 1657793	NM_153212.3(GJB4):c.568A>T (p.Met190Leu)	GJB4 (M190L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3366023	NM_153212.3(GJB4):c.569T>C (p.Met190Thr)	GJB4 (M190T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099975	NM_153212.3(GJB4):c.586A>G (p.Ile196Val)	GJB4 (I196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711908	NM_153212.3(GJB4):c.587T>C (p.Ile196Thr)	GJB4 (I196T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195419	NM_153212.3(GJB4):c.611A>C (p.Glu204Ala)	GJB4 (E204A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 711825	NM_153212.3(GJB4):c.627G>A (p.Val209=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2576047	NM_153212.3(GJB4):c.637T>C (p.Cys213Arg)	GJB4 (C213R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021145	NM_153212.3(GJB4):c.653G>A (p.Gly218Asp)	GJB4 (G218D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099976	NM_153212.3(GJB4):c.667C>T (p.Arg223Trp)	GJB4 (R223W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555827	NM_153212.3(GJB4):c.680G>A (p.Arg227Gln)	GJB4 (R227Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736352	NM_153212.3(GJB4):c.693C>T (p.Pro231=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3281455	NM_153212.3(GJB4):c.694G>A (p.Asp232Asn)	GJB4 (D232N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733873	NM_153212.3(GJB4):c.699G>A (p.Thr233=)	GJB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2224866	NM_153212.3(GJB4):c.730C>T (p.His244Tyr)	GJB4 (H244Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306092	NM_153212.3(GJB4):c.749C>G (p.Ser250Cys)	GJB4 (S250C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723746	NM_153212.3(GJB4):c.763G>C (p.Ala255Pro)	GJB4 (A255P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253120	NM_153212.3(GJB4):c.770C>T (p.Ser257Leu)	GJB4 (S257L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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