"GeneDx"[submitter] AND "L1CAM"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 58740	GRCh38/hg38 Xq28(chrX:153769547-154394658)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 58741	GRCh38/hg38 Xq28(chrX:153777340-154397779)x3	ARHGAP4, AVPR2 +66 more	Copy number gain	See cases	GPathogenic
Select item 58742	GRCh38/hg38 Xq28(chrX:153787044-154397779)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 1219357	NM_001278116.2(L1CAM):c.*203G>C	L1CAM	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1252419	NM_001278116.2(L1CAM):c.*159T>C	L1CAM	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 449970	NM_001278116.2(L1CAM):c.3774G>C (p.Ter1258Tyr)	L1CAM	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 1697985	NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu)	L1CAM (S1215L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2574997	NM_001278116.2(L1CAM):c.3613G>A (p.Asp1205Asn)	L1CAM (D1196N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304044	NM_001278116.2(L1CAM):c.3587A>G (p.Asn1196Ser)	L1CAM (N1187S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580534	NM_001278116.2(L1CAM):c.3583C>G (p.Leu1195Val)	L1CAM (L1186V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1251557	NM_001278116.2(L1CAM):c.3543-11T>C	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 1236215	NM_001278116.2(L1CAM):c.3543-22C>A	L1CAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507409	NM_001278116.2(L1CAM):c.3542+14G>A	L1CAM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1213673	NM_001278116.2(L1CAM):c.3531-12G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GPathogenic
Select item 423636	NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys)	L1CAM (E1175K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167236	NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1012673	NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu)	L1CAM (P1162L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 647732	NM_001278116.2(L1CAM):c.3496C>T (p.Arg1166Ter)	L1CAM (R1161* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 1305382	NM_001278116.2(L1CAM):c.3476C>T (p.Thr1159Ile)	L1CAM (T1154I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663426	NM_001278116.2(L1CAM):c.3473A>G (p.Asp1158Gly)	L1CAM (D1153G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256048	NM_001278116.2(L1CAM):c.3458-34C>T	L1CAM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1298208	NM_001278116.2(L1CAM):c.3458-139G>A	L1CAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250859	NM_001278116.2(L1CAM):c.3457+116G>T	L1CAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228082	NM_001278116.2(L1CAM):c.3457+53C>T	L1CAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 458214	NM_001278116.2(L1CAM):c.3457+18C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign
Select item 1312082	NM_001278116.2(L1CAM):c.3449A>G (p.Lys1150Arg)	L1CAM (K1145R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207648	NM_001278116.2(L1CAM):c.3434G>A (p.Arg1145His)	L1CAM (R1140H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2507165	NM_001278116.2(L1CAM):c.3427A>G (p.Ile1143Val)	L1CAM (I1138V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499733	NM_001278116.2(L1CAM):c.3352G>C (p.Ala1118Pro)	L1CAM (A1113P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572001	NM_001278116.2(L1CAM):c.3341C>T (p.Pro1114Leu)	L1CAM (P1109L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508327	NM_001278116.2(L1CAM):c.3323-11C>G	L1CAM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 445700	NM_001278116.2(L1CAM):c.3323-24dup	L1CAM	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1291210	NM_001278116.2(L1CAM):c.3323-84C>T	L1CAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256047	NM_001278116.2(L1CAM):c.3322+19G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 2501485	NM_001278116.2(L1CAM):c.3226A>T (p.Thr1076Ser)	L1CAM (T1071S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712029	NM_001278116.2(L1CAM):c.3182C>A (p.Ala1061Asp)	L1CAM (A1056D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304596	NM_001278116.2(L1CAM):c.3140T>C (p.Phe1047Ser)	L1CAM (F1042S +1 more)	Single nucleotide variant (missense variant)	not provided	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 382519	NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=)	L1CAM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1179331	NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn)	L1CAM (S1027N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 668994	NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 488701	NM_001278116.2(L1CAM):c.3071C>G (p.Ser1024Ter)	L1CAM (S1024* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1704185	NM_001278116.2(L1CAM):c.3046+5G>C	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 509479	NM_001278116.2(L1CAM):c.3039C>G (p.Ala1013=)	L1CAM	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 195651	NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)	L1CAM	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1303733	NM_001278116.2(L1CAM):c.2978T>C (p.Leu993Pro)	L1CAM (L988P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 10000	NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter)	L1CAM (Q992* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 504061	NM_001278116.2(L1CAM):c.2918_2919del (p.Pro973fs)	L1CAM (P968fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 373574	NM_001278116.2(L1CAM):c.2911C>T (p.Arg971Trp)	L1CAM (R971W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576907	NM_001278116.2(L1CAM):c.2900C>T (p.Ser967Phe)	L1CAM (S962F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92928	NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val)	L1CAM (L958V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1257373	NM_001278116.2(L1CAM):c.2763C>T (p.Pro921=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign
Select item 1304185	NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr)	L1CAM (H915Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2443600	NM_001278116.2(L1CAM):c.2748A>T (p.Gly916=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1344942	NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys)	L1CAM (E908K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1074837	NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter)	L1CAM (R896* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 384508	NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 2662276	NM_001278116.2(L1CAM):c.2648G>C (p.Ser883Thr)	L1CAM (S878T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817222	NM_001278116.2(L1CAM):c.2593_2594del (p.His865fs)	L1CAM (H860fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2430869	NM_001278116.2(L1CAM):c.2548-37C>A	L1CAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265227	NM_001278116.2(L1CAM):c.2547+1G>A	L1CAM	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 265226	NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter)	L1CAM (Y848* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 1305404	NM_001278116.2(L1CAM):c.2539G>A (p.Gly847Arg)	L1CAM (G842R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158794	NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)	L1CAM (R846L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
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 429911	NM_001278116.2(L1CAM):c.2438dup (p.Ala814fs)	L1CAM (A814fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 379893	NM_001278116.2(L1CAM):c.2433C>A (p.Tyr811Ter)	L1CAM (Y811* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1284130	NM_001278116.2(L1CAM):c.2432-86G>A	L1CAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270472	NM_001278116.2(L1CAM):c.2431+322dup	L1CAM	Duplication (intron variant)	not provided	GBenign
Select item 1268277	NM_001278116.2(L1CAM):c.2431+336del	L1CAM	Deletion (intron variant)	not provided	GBenign
Select item 1217063	NM_001278116.2(L1CAM):c.2431+329T>C	L1CAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194863	NM_001278116.2(L1CAM):c.2431+300_2431+311del	L1CAM	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1289085	NM_001278116.2(L1CAM):c.2431+147C>A	L1CAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432107	NM_001278116.2(L1CAM):c.2431+5G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1305515	NM_001278116.2(L1CAM):c.2416T>C (p.Tyr806His)	L1CAM (Y801H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507224	NM_001278116.2(L1CAM):c.2368G>C (p.Ala790Pro)	L1CAM (A785P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392922	NM_001278116.2(L1CAM):c.2343C>G (p.Phe781Leu)	L1CAM (F781L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501860	NM_001278116.2(L1CAM):c.2311C>T (p.Pro771Ser)	L1CAM (P766S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276234	NM_001278116.2(L1CAM):c.2310C>T (p.Asp770=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 92925	NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 92924	NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)	L1CAM (V768I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 1303055	NM_001278116.2(L1CAM):c.2260T>A (p.Trp754Arg)	L1CAM (W749R +1 more)	Single nucleotide variant (missense variant)	not provided	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 1313001	NM_001278116.2(L1CAM):c.2249A>G (p.Tyr750Cys)	L1CAM (Y745C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421020	NM_001278116.2(L1CAM):c.2249A>C (p.Tyr750Ser)	L1CAM (Y750S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304313	NM_001278116.2(L1CAM):c.2234C>T (p.Ala745Val)	L1CAM (A740V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449707	NM_001278116.2(L1CAM):c.2209-42_2229del	L1CAM	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 211338	NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2505646	NM_001278116.2(L1CAM):c.2209C>G (p.Pro737Ala)	L1CAM (P732A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92923	NM_001278116.2(L1CAM):c.2209-6C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GBenign
Select item 429789	NM_001278116.2(L1CAM):c.2205G>A (p.Trp735Ter)	L1CAM (W735* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1312927	NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys)	L1CAM (E722K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265225	NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg)	L1CAM (G698R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 527989	NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu)	L1CAM (P681L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance

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