ClinVar for MedGen (Select 75552) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065073	NM_001278116.2(L1CAM):c.1216G>T (p.Ala406Ser)	L1CAM (A401S +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GUncertain significance
Select item 3064492	NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)	L1CAM (G406W +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 3062318	NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)	L1CAM (W1073* +1 more)	Single nucleotide variant (nonsense)	MASA syndrome +1 more	GLikely pathogenic
Select item 3062265	NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)	L1CAM (G945fs +1 more)	Deletion (frameshift variant)	MASA syndrome +1 more	GLikely pathogenic
Select item 3024289	NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)	L1CAM (P807A +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome +2 more	GUncertain significance
Select item 2498133	NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)	L1CAM (Y847fs +1 more)	Deletion (frameshift variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 1805138	NM_001278116.2(L1CAM):c.1703+5G>A	L1CAM	Single nucleotide variant (intron variant)	X-linked hydrocephalus syndrome	GPathogenic
Select item 1700198	NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His)	L1CAM (P795H +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 1699076	NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr)	L1CAM	Duplication (inframe_insertion)	X-linked hydrocephalus syndrome	GUncertain significance
Select item 1676776	NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)	L1CAM (N787K +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 1676775	NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)	L1CAM (Q517fs +1 more)	Deletion (frameshift variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 1676774	NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)	L1CAM (Q761* +1 more)	Single nucleotide variant (nonsense)	X-linked hydrocephalus syndrome	GPathogenic
Select item 1344539	NM_001278116.2(L1CAM):c.3046+1G>A	L1CAM	Single nucleotide variant (splice donor variant)	X-linked hydrocephalus syndrome	GPathogenic
Select item 1310665	NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp)	L1CAM (A834D +1 more)	Indel (missense variant)	not provided +3 more	GUncertain significance
Select item 1303645	NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)	L1CAM (E1035K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 1297465	NM_006086.4(TUBB3):c.33G>C (p.Gln11His)	LOC130059847, TUBB3 (Q11H)	Single nucleotide variant (missense variant +1 more)	X-linked hydrocephalus syndrome	GUncertain significance
Select item 1297463	NM_001940.4(ATN1):c.2425C>G (p.Gln809Glu)	ATN1 (Q809E)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GUncertain significance
Select item 1176609	NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)	L1CAM (R124W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 988729	NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)	L1CAM (G1188R +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 982026	NM_001278116.2(L1CAM):c.139_140del (p.Val47fs)	L1CAM (V42fs +1 more)	Deletion (frameshift variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 976710	NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)	L1CAM (S243Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 827844	NM_001278116.2(L1CAM):c.1268-1G>A	L1CAM	Single nucleotide variant (splice acceptor variant)	X-linked hydrocephalus syndrome	GPathogenic
Select item 804117	NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG	L1CAM, L1CAM-AS1	Insertion (non-coding transcript variant +1 more)	X-linked hydrocephalus syndrome	GLikely benign
Select item 804116	NM_001278116.2(L1CAM):c.-109+234del	L1CAM, L1CAM-AS1	Deletion (non-coding transcript variant +1 more)	X-linked hydrocephalus syndrome	GBenign
Select item 804115	NM_001278116.2(L1CAM):c.-109+238_-109+239insGG	L1CAM, L1CAM-AS1	Insertion (non-coding transcript variant +1 more)	X-linked hydrocephalus syndrome	GBenign
Select item 804114	NM_001278116.2(L1CAM):c.-109+1811dup	L1CAM, L1CAM-AS1	Duplication (non-coding transcript variant +1 more)	X-linked hydrocephalus syndrome	GBenign
Select item 804113	NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)	L1CAM (M1I)	Single nucleotide variant (missense variant +1 more)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 804112	NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs)	L1CAM (A809fs +1 more)	Duplication (frameshift variant)	X-linked hydrocephalus syndrome	GPathogenic
Select item 689728	NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)	L1CAM (D202N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 589419	NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 562010	NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser)	L1CAM (P524S +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GUncertain significance
Select item 458210	NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)	L1CAM (T38M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +7 more	GBenign/Likely benign
Select item 432023	NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr)	L1CAM (M235T +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome +1 more	GConflicting classifications of pathogenicity
Select item 418278	NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter)	L1CAM (Q470* +1 more)	Single nucleotide variant (nonsense)	X-linked hydrocephalus syndrome +1 more	GPathogenic
Select item 279601	NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly)	L1CAM (C539G +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 265223	NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)	L1CAM (R485* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic
Select item 226120	NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)	L1CAM (Q794* +1 more)	Single nucleotide variant (nonsense)	L1 syndrome +1 more	GPathogenic/Likely pathogenic
Select item 211339	NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)	L1CAM (R760* +1 more)	Single nucleotide variant (nonsense)	Hydrocephalus due to aqueductal stenosis +4 more	GPathogenic
Select item 198728	NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)	L1CAM	Single nucleotide variant (synonymous variant)	L1CAM-related condition +1 more	GLikely pathogenic
Select item 195460	NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)	L1CAM (R886Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 29986	NM_001278116.2(L1CAM):c.3458-1G>C	L1CAM	Single nucleotide variant (splice acceptor variant)	X-linked hydrocephalus syndrome	GPathogenic
Select item 10001	NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)	L1CAM (P240L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 9999	NM_001278116.2(L1CAM):c.1939+5G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 9998	NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)	L1CAM (V752M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9996	NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs)	L1CAM (G803fs +1 more)	Deletion (frameshift variant)	X-linked hydrocephalus syndrome	GPathogenic
Select item 9995	NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)	L1CAM (G370R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GPathogenic
Select item 9993	NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)	L1CAM (S1194L +2 more)	Single nucleotide variant (missense variant)	Severe hydrocephalus +4 more	GPathogenic/Likely pathogenic
Select item 9991	NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)	L1CAM (R184Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 9990	NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)	L1CAM (G452R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 9987	L1CAM, 1.3-KB DUP	L1CAM	Duplication	X-linked hydrocephalus syndrome	GPathogenic
Select item 9986	NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)	L1CAM (C264Y +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GPathogenic
Select item 9985	NM_001278116.2(L1CAM):c.2432-19A>C	L1CAM	Single nucleotide variant (intron variant)	X-linked hydrocephalus syndrome	GPathogenic

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Items: 52