LCTL[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 3118187	NM_207338.4(LCTL):c.1619C>T (p.Thr540Met)	LCTL, ZWILCH (T279M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461362	NM_207338.4(LCTL):c.1618A>G (p.Thr540Ala)	LCTL, ZWILCH (T540A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285734	NM_207338.4(LCTL):c.1608G>A (p.Met536Ile)	LCTL, ZWILCH (M363I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469350	NM_207338.4(LCTL):c.1510C>G (p.Pro504Ala)	LCTL (P331A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255904	NM_207338.4(LCTL):c.1505G>C (p.Gly502Ala)	LCTL (G502A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118186	NM_207338.4(LCTL):c.1459C>T (p.Pro487Ser)	LCTL (P314S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118185	NM_207338.4(LCTL):c.1453C>T (p.Arg485Cys)	LCTL (R485C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471061	NM_207338.4(LCTL):c.1426G>A (p.Val476Ile)	LCTL (V303I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118184	NM_207338.4(LCTL):c.1384G>C (p.Glu462Gln)	LCTL (E289Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305199	NM_207338.4(LCTL):c.1376A>G (p.Asp459Gly)	LCTL (D459G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514948	NM_207338.4(LCTL):c.1316T>C (p.Met439Thr)	LCTL (M234T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590184	NM_207338.4(LCTL):c.1241C>A (p.Ala414Glu)	LCTL (A241E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118183	NM_207338.4(LCTL):c.1229T>C (p.Met410Thr)	LCTL (M410T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2599869	NM_207338.4(LCTL):c.1121C>A (p.Pro374Gln)	LCTL (P201Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118182	NM_207338.4(LCTL):c.1096C>T (p.Arg366Cys)	LCTL (R161C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118181	NM_207338.4(LCTL):c.1096C>A (p.Arg366Ser)	LCTL (R161S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260204	NM_207338.4(LCTL):c.1070G>A (p.Arg357His)	LCTL (R152H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381923	NM_207338.4(LCTL):c.1049C>T (p.Thr350Met)	LCTL (T145M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2247285	NM_207338.4(LCTL):c.1036A>G (p.Thr346Ala)	LCTL (T346A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118180	NM_207338.4(LCTL):c.1009G>A (p.Asp337Asn)	LCTL (D164N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645476	NM_207338.4(LCTL):c.981G>A (p.Gln327=)	LCTL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2557376	NM_207338.4(LCTL):c.950A>G (p.Glu317Gly)	LCTL (E112G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247927	NM_207338.4(LCTL):c.890G>A (p.Gly297Asp)	LCTL (G297D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118194	NM_207338.4(LCTL):c.878C>T (p.Pro293Leu)	LCTL (P120L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364199	NM_207338.4(LCTL):c.874A>G (p.Asn292Asp)	LCTL (N292D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118193	NM_207338.4(LCTL):c.838G>A (p.Glu280Lys)	LCTL (E280K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645477	NM_207338.4(LCTL):c.831G>A (p.Glu277=)	LCTL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2244973	NM_207338.4(LCTL):c.811A>G (p.Ser271Gly)	LCTL (S271G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118192	NM_207338.4(LCTL):c.796G>A (p.Glu266Lys)	LCTL (E266K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314731	NM_207338.4(LCTL):c.794G>A (p.Gly265Glu)	LCTL (G60E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475969	NM_207338.4(LCTL):c.772A>T (p.Ile258Phe)	LCTL (I85F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778495	NM_207338.4(LCTL):c.762T>A (p.Gly254=)	LCTL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2363243	NM_207338.4(LCTL):c.740C>T (p.Thr247Met)	LCTL (T247M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366438	NM_207338.4(LCTL):c.712G>A (p.Ala238Thr)	LCTL (A238T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318115	NM_207338.4(LCTL):c.673G>A (p.Gly225Ser)	LCTL (G225S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118191	NM_207338.4(LCTL):c.665G>A (p.Arg222His)	LCTL (R222H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3118190	NM_207338.4(LCTL):c.662T>C (p.Leu221Pro)	LCTL (L221P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376017	NM_207338.4(LCTL):c.650C>T (p.Pro217Leu)	LCTL (P217L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225508	NM_207338.4(LCTL):c.649C>A (p.Pro217Thr)	LCTL (P217T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118188	NM_207338.4(LCTL):c.499G>A (p.Gly167Ser)	LCTL (G167S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2374605	NM_207338.4(LCTL):c.478C>A (p.Gln160Lys)	LCTL (Q160K)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2289924	NM_207338.4(LCTL):c.353T>C (p.Leu118Pro)	LCTL (L118P)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 782598	NM_207338.4(LCTL):c.201C>T (p.Asp67=)	LCTL	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 2609870	NM_207338.4(LCTL):c.166T>A (p.Trp56Arg)	LCTL (W56R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2616060	NM_207338.4(LCTL):c.149A>T (p.Tyr50Phe)	LCTL (Y50F)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2540579	NM_207338.4(LCTL):c.98A>G (p.Tyr33Cys)	LCTL (Y33C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358082	NM_207338.4(LCTL):c.92C>G (p.Ser31Cys)	LCTL (S31C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714659	NM_207338.4(LCTL):c.90C>A (p.Ala30=)	LCTL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2492689	NM_207338.4(LCTL):c.64G>T (p.Ala22Ser)	LCTL (A22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546930	NM_207338.4(LCTL):c.59G>A (p.Gly20Glu)	LCTL (G20E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	CLN6, CORO2B +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 590960	GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)	LCTL, SMAD3 +2 more	Copy number loss	Aortic valve disease 1	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 61