ClinVar for MedGen (Select 325157) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2683908	NM_020435.4(GJC2):c.706G>C (p.Gly236Arg)	GJC2 (G236R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GPathogenic
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 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 1705684	NM_020435.4(GJC2):c.293C>A (p.Ala98Asp)	GJC2 (A98D)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 1525995	NM_020435.4(GJC2):c.472_481dup (p.Ala161fs)	GJC2 (A161fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 1472061	NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys)	GJC2 (Y68C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1339505	NM_020435.4(GJC2):c.755A>G (p.His252Arg)	GJC2 (H252R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 1339504	NM_020435.4(GJC2):c.371_392dup (p.His132fs)	GJC2 (H132fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 1180631	NM_020435.4(GJC2):c.760G>A (p.Val254Met)	GJC2 (V254M)	Single nucleotide variant (missense variant)	Abnormality of the nervous system	GLikely pathogenic
Select item 1027508	NM_020435.4(GJC2):c.254T>C (p.Val85Ala)	GJC2 (V85A)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 1027507	NM_020435.4(GJC2):c.219_220del (p.Leu74fs)	GJC2 (L74fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 1027431	NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)	GJC2 (R101L)	Single nucleotide variant (missense variant)	Spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 983451	NM_020435.4(GJC2):c.49dup (p.His17fs)	GJC2 (H17fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 982030	NM_020435.4(GJC2):c.62C>T (p.Thr21Ile)	GJC2 (T21I)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 981049	NM_020435.4(GJC2):c.1096dup (p.Asp366fs)	GJC2 (D366fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 981047	NM_020435.4(GJC2):c.571_572insG (p.Thr191fs)	GJC2 (T191fs)	Insertion (frameshift variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 943603	NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)	GJC2	Deletion (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 932966	NM_020435.4(GJC2):c.907_923del (p.Gly303fs)	GJC2 (G303fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 873005	NM_020435.4(GJC2):c.575dup (p.Thr195fs)	GJC2 (T195fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 872979	NM_020435.4(GJC2):c.733T>A (p.Cys245Ser)	GJC2 (C245S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 872977	NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)	GJC2 (A40P)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 870536	NM_020435.4(GJC2):c.883C>T (p.Gln295Ter)	GJC2 (Q295*)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 801629	NM_020435.4(GJC2):c.1155del (p.Arg386fs)	GJC2 (R386fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 801628	NM_020435.4(GJC2):c.217C>A (p.Pro73Thr)	GJC2 (P73T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 800511	NM_020435.4(GJC2):c.768C>G (p.Cys256Trp)	GJC2 (C256W)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GUncertain significance
Select item 695528	NM_020435.4(GJC2):c.445G>A (p.Gly149Ser)	GJC2 (G149S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 656694	NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)	GJC2 (A379fs)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 634512	NM_020435.4(GJC2):c.193_195del (p.Asn65del)	GJC2 (N65del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 625200	NM_020435.4(GJC2):c.107del (p.Ile36fs)	GJC2 (I36fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 445910	NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	GJC2 (H412Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +7 more	GUncertain significance
Select item 435326	NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys)	GJC2 (S392C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 426207	NM_020435.4(GJC2):c.970_971dup (p.Ala325fs)	GJC2 (A325fs)	Duplication (frameshift variant)	Abnormality of the nervous system +2 more	GPathogenic/Likely pathogenic
Select item 279932	NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	SNAP29 (L119fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 279894	NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	SNAP29 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 266108	NM_020435.4(GJC2):c.78del (p.Trp27fs)	GJC2 (W27fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 235758	NM_020435.4(GJC2):c.108C>T (p.Ile36=)	GJC2	Single nucleotide variant (synonymous variant)	Lymphatic malformation 3 +6 more	GBenign/Likely benign
Select item 235616	NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)	GCDH (R386*)	Single nucleotide variant (nonsense +1 more)	Hypomyelinating leukodystrophy 2 +2 more	GPathogenic
Select item 139577	NM_020435.3(GJC2):c.-170A>G	GJC2	Single nucleotide variant	Spastic paraplegia	GUncertain significance
Select item 60683	NM_020435.4(GJC2):c.787G>A (p.Glu263Lys)	GJC2 (E263K)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 30759	NM_020435.3(GJC2):c.-167A>G	GJC2	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 2077	NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter)	GJC2 (Y232*)	Insertion (nonsense)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 2076	NM_020435.4(GJC2):c.914_947del (p.Pro305fs)	GJC2 (P305fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2075	NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp)	GJC2 (Y272D)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 2074	NM_020435.4(GJC2):c.718C>T (p.Arg240Ter)	GJC2 (R240*)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 2073	NM_020435.4(GJC2):c.989del (p.Pro330fs)	GJC2 (P330fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 2072	NM_020435.4(GJC2):c.268C>T (p.Pro90Ser)	GJC2 (P90S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GPathogenic
Select item 2071	NM_020435.4(GJC2):c.857T>C (p.Met286Thr)	GJC2 (M286T)	Single nucleotide variant (missense variant)	See cases	GPathogenic

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Items: 48