ClinVar for Gene (Select 57165) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340090	NM_020435.4(GJC2):c.404G>A (p.Trp135Ter)	GJC2 (W135*)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 3338029	NM_020435.4(GJC2):c.282C>G (p.Tyr94Ter)	GJC2 (Y94*)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 3337147	NM_020435.4(GJC2):c.706G>A (p.Gly236Ser)	GJC2 (G236S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3336787	NM_020435.4(GJC2):c.907_923dup (p.Pro309fs)	GJC2 (P309fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3336786	NM_020435.4(GJC2):c.979_983dup (p.Cys329fs)	GJC2 (C329fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3336785	NM_020435.4(GJC2):c.893_942del (p.Val298fs)	GJC2 (V298fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3336784	NM_020435.4(GJC2):c.357dup (p.Pro120fs)	GJC2 (P120fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3336783	NM_020435.4(GJC2):c.99del (p.Phe34fs)	GJC2 (F34fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3336782	NM_020435.4(GJC2):c.790A>T (p.Lys264Ter)	GJC2 (K264*)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 3336781	NM_020435.4(GJC2):c.746C>T (p.Pro249Leu)	GJC2 (P249L)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 3336780	NM_020435.4(GJC2):c.196_201del (p.Val66_Cys67del)	GJC2	Deletion (inframe_deletion)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3336779	NM_020435.4(GJC2):c.916_928dup (p.Ala310fs)	GJC2 (A310fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3336778	NM_020435.4(GJC2):c.693G>T (p.Gln231His)	GJC2 (Q231H)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 3281468	NM_020435.4(GJC2):c.575C>T (p.Pro192Leu)	GJC2 (P192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281467	NM_020435.4(GJC2):c.176G>C (p.Arg59Pro)	GJC2 (R59P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251968	NM_020435.4(GJC2):c.184G>C (p.Gly62Arg)	GJC2 (G62R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2 +1 more	GUncertain significance
Select item 3247647	NC_000001.10:g.(?_228194830)_(228566496_?)del	ARF1, C1orf35 +6 more	Deletion	Spastic paraplegia +2 more	GPathogenic
Select item 3099995	NM_020435.4(GJC2):c.86C>T (p.Thr29Met)	GJC2 (T29M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099994	NM_020435.4(GJC2):c.440T>C (p.Met147Thr)	GJC2 (M147T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099993	NM_020435.4(GJC2):c.405G>T (p.Trp135Cys)	GJC2 (W135C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099992	NM_020435.4(GJC2):c.370C>T (p.Pro124Ser)	GJC2 (P124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099991	NM_020435.4(GJC2):c.175C>T (p.Arg59Trp)	GJC2 (R59W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099990	NM_020435.4(GJC2):c.1177C>G (p.Arg393Gly)	GJC2 (R393G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067586	NM_020435.4(GJC2):c.909C>A (p.Gly303=)	GJC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064707	NM_020435.4(GJC2):c.619G>A (p.Glu207Lys)	GJC2 (E207K)	Single nucleotide variant (missense variant)	Lymphatic malformation 3	GUncertain significance
Select item 3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	CCSAP, ABCB10 +21 more	Copy number loss	not specified	GPathogenic
Select item 3061968	NM_020435.4(GJC2):c.104G>A (p.Arg35His)	GJC2 (R35H)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 3050026	NM_020435.4(GJC2):c.360A>G (p.Pro120=)	GJC2	Single nucleotide variant (synonymous variant)	GJC2-related disorder	GLikely benign
Select item 3022898	NM_020435.4(GJC2):c.357G>T (p.Gly119=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3015971	NM_020435.4(GJC2):c.644C>T (p.Ala215Val)	GJC2 (A215V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3011820	NM_020435.4(GJC2):c.704A>G (p.Tyr235Cys)	GJC2 (Y235C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2982160	NM_020435.4(GJC2):c.1092T>A (p.Ala364=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2964274	NM_020435.4(GJC2):c.1013G>T (p.Arg338Leu)	GJC2 (R338L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2915358	NM_020435.4(GJC2):c.784A>C (p.Thr262Pro)	GJC2 (T262P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2915192	NM_020435.4(GJC2):c.1128C>A (p.Gly376=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2910764	NM_020435.4(GJC2):c.51C>T (p.His17=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2904972	NM_020435.4(GJC2):c.584C>T (p.Thr195Ile)	GJC2 (T195I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2902620	NM_020435.4(GJC2):c.484G>A (p.Ala162Thr)	GJC2 (A162T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2900467	NM_020435.4(GJC2):c.453C>T (p.Gly151=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2900466	NM_020435.4(GJC2):c.452G>T (p.Gly151Val)	GJC2 (G151V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2900381	NM_020435.4(GJC2):c.577G>T (p.Gly193Cys)	GJC2 (G193C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2853823	NM_020435.4(GJC2):c.766T>C (p.Cys256Arg)	GJC2 (C256R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2835754	NM_020435.4(GJC2):c.678C>T (p.Ala226=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2825221	NM_020435.4(GJC2):c.975T>G (p.Ala325=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2819225	NM_020435.4(GJC2):c.338C>T (p.Ala113Val)	GJC2 (A113V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2817664	NM_020435.4(GJC2):c.902_910dup (p.Gly303_Pro304insArgArgGly)	GJC2	Duplication (inframe_insertion)	Spastic paraplegia	GUncertain significance
Select item 2814752	NM_020435.4(GJC2):c.412C>A (p.Pro138Thr)	GJC2 (P138T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2810702	NM_020435.4(GJC2):c.636G>C (p.Val212=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2804623	NM_020435.4(GJC2):c.637T>A (p.Tyr213Asn)	GJC2 (Y213N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2797696	NM_020435.4(GJC2):c.372C>G (p.Pro124=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2762881	NM_020435.4(GJC2):c.1050G>A (p.Leu350=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2754492	NM_020435.4(GJC2):c.126C>T (p.Gly42=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2748510	NM_020435.4(GJC2):c.751C>G (p.Pro251Ala)	GJC2 (P251A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2746836	NM_020435.4(GJC2):c.782C>G (p.Pro261Arg)	GJC2 (P261R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2739345	NM_020435.4(GJC2):c.175C>A (p.Arg59=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2732624	NM_020435.4(GJC2):c.177G>T (p.Arg59=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2732501	NM_020435.4(GJC2):c.1125C>T (p.Val375=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2732097	NM_020435.4(GJC2):c.368C>A (p.Ala123Glu)	GJC2 (A123E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2730284	NM_020435.4(GJC2):c.1249G>C (p.Ala417Pro)	GJC2 (A417P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2726006	NM_020435.4(GJC2):c.69_82dup (p.Leu28fs)	GJC2 (L28fs)	Duplication (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2725191	NM_020435.4(GJC2):c.363C>G (p.Arg121=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2725183	NM_020435.4(GJC2):c.251T>C (p.Ile84Thr)	GJC2 (I84T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2718933	NM_020435.4(GJC2):c.608G>A (p.Arg203His)	GJC2 (R203H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2683908	NM_020435.4(GJC2):c.706G>C (p.Gly236Arg)	GJC2 (G236R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 2682721	NM_020435.4(GJC2):c.965C>A (p.Ala322Glu)	GJC2 (A322E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672149	NM_020435.4(GJC2):c.607C>T (p.Arg203Cys)	GJC2 (R203C)	Single nucleotide variant (missense variant)	Lymphatic malformation 3	GUncertain significance
Select item 2671654	NM_020435.4(GJC2):c.32G>C (p.Arg11Pro)	GJC2 (R11P)	Single nucleotide variant (missense variant)	Lymphatic malformation 3	GUncertain significance
Select item 2639984	NM_020435.4(GJC2):c.988C>T (p.Pro330Ser)	GJC2 (P330S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585089	NM_020435.4(GJC2):c.814T>C (p.Tyr272His)	GJC2 (Y272H)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 2572857	NM_020435.4(GJC2):c.812T>G (p.Met271Arg)	GJC2 (M271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2530360	NM_020435.4(GJC2):c.672G>T (p.Glu224Asp)	GJC2 (E224D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505265	NM_020435.4(GJC2):c.647A>G (p.Gln216Arg)	GJC2 (Q216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498449	NM_020435.4(GJC2):c.820G>C (p.Val274Leu)	GJC2 (V274L)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2493496	NM_020435.4(GJC2):c.1144C>T (p.Arg382Trp)	GJC2 (R382W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482175	NM_020435.4(GJC2):c.934G>T (p.Ala312Ser)	GJC2 (A312S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480771	NM_020435.4(GJC2):c.190G>A (p.Asp64Asn)	GJC2 (D64N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432127	NM_020435.4(GJC2):c.659G>A (p.Arg220Lys)	GJC2 (R220K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432126	NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)	GJC2 (G134S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2432124	NM_020435.4(GJC2):c.830T>C (p.Leu277Pro)	GJC2 (L277P)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2432123	NM_020435.4(GJC2):c.512A>C (p.Glu171Ala)	GJC2 (E171A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2426551	NC_000001.10:g.(?_228337558)_(228346779_?)dup	GJC2	Duplication	Spastic paraplegia	GUncertain significance
Select item 2417910	NM_020435.4(GJC2):c.30_31delinsAA (p.Thr10_Arg11=)	GJC2	Indel (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2340771	NM_020435.4(GJC2):c.442C>A (p.Leu148Met)	GJC2 (L148M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334053	NM_020435.4(GJC2):c.479G>A (p.Gly160Glu)	GJC2 (G160E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2306578	NM_020435.4(GJC2):c.1021G>C (p.Glu341Gln)	GJC2 (E341Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266186	NM_020435.4(GJC2):c.1045A>C (p.Asn349His)	GJC2 (N349H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261981	NM_020435.4(GJC2):c.139T>C (p.Tyr47His)	GJC2 (Y47H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2255075	NM_020435.4(GJC2):c.229G>A (p.Val77Met)	GJC2 (V77M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229077	NM_020435.4(GJC2):c.919T>G (p.Ser307Ala)	GJC2 (S307A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228682	NM_020435.4(GJC2):c.327G>C (p.Glu109Asp)	GJC2 (E109D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227515	NM_020435.4(GJC2):c.913C>T (p.Pro305Ser)	GJC2 (P305S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204381	NM_020435.4(GJC2):c.1151C>A (p.Pro384His)	GJC2 (P384H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202995	NM_020435.4(GJC2):c.-20+1G>C	GJC2	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GPathogenic
Select item 2200059	NM_020435.4(GJC2):c.32G>A (p.Arg11Gln)	GJC2 (R11Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2195075	NM_020435.4(GJC2):c.29C>T (p.Thr10Met)	GJC2 (T10M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2194967	NM_020435.4(GJC2):c.407C>G (p.Pro136Arg)	GJC2 (P136R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2191564	NM_020435.4(GJC2):c.546C>G (p.Val182=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2179639	NM_020435.4(GJC2):c.873G>A (p.Leu291=)	GJC2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2174422	NM_020435.4(GJC2):c.1195T>C (p.Ser399Pro)	GJC2 (S399P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2164739	NM_020435.4(GJC2):c.530C>T (p.Ala177Val)	GJC2 (A177V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance

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