LYL1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 149139	GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1	CACNA1A, DAND5 +58 more	Copy number loss	See cases	GPathogenic
Select item 147360	GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3	CACNA1A, IER2 +50 more	Copy number gain	See cases	GUncertain significance
Select item 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 more	Copy number loss	See cases	GPathogenic
Select item 2265869	NM_005583.5(LYL1):c.839G>A (p.Arg280Gln)	LYL1 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493268	NM_005583.5(LYL1):c.809T>G (p.Met270Arg)	LYL1 (M270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603380	NM_005583.5(LYL1):c.768C>A (p.Asp256Glu)	LYL1 (D256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493015	NM_005583.5(LYL1):c.757C>T (p.Pro253Ser)	LYL1 (P253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121668	NM_005583.5(LYL1):c.683A>G (p.His228Arg)	LYL1 (H228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292373	NM_005583.5(LYL1):c.656C>T (p.Pro219Leu)	LYL1 (P219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121667	NM_005583.5(LYL1):c.656C>A (p.Pro219His)	LYL1 (P219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323153	NM_005583.5(LYL1):c.598G>A (p.Gly200Ser)	LYL1 (G200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588702	NM_005583.5(LYL1):c.560G>C (p.Ser187Thr)	LYL1 (S187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596174	NM_005583.5(LYL1):c.524A>G (p.Lys175Arg)	LYL1 (K175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541944	NM_005583.5(LYL1):c.510C>A (p.Phe170Leu)	LYL1 (F170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292372	NM_005583.5(LYL1):c.488A>T (p.Gln163Leu)	LYL1 (Q163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321846	NM_005583.5(LYL1):c.473G>A (p.Arg158Gln)	LYL1 (R158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292371	NM_005583.5(LYL1):c.401G>A (p.Ser134Asn)	LYL1 (S134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214899	NM_005583.5(LYL1):c.383G>A (p.Arg128Gln)	LYL1 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121666	NM_005583.5(LYL1):c.356G>T (p.Gly119Val)	LYL1 (G119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239536	NM_005583.5(LYL1):c.341A>G (p.Tyr114Cys)	LYL1 (Y114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386873	NM_005583.5(LYL1):c.301G>A (p.Ala101Thr)	LYL1 (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469163	NM_005583.5(LYL1):c.290C>T (p.Pro97Leu)	LYL1 (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215255	NM_005583.5(LYL1):c.250C>T (p.Arg84Trp)	LYL1 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270624	NM_005583.5(LYL1):c.233C>A (p.Thr78Lys)	LYL1 (T78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550377	NM_005583.5(LYL1):c.224T>A (p.Met75Lys)	LYL1 (M75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394956	NM_005583.5(LYL1):c.214G>A (p.Gly72Arg)	LYL1 (G72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521813	NM_005583.5(LYL1):c.132G>C (p.Glu44Asp)	LYL1 (E44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121669	NM_005583.5(LYL1):c.73A>C (p.Ser25Arg)	LYL1 (S25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121665	NM_005583.5(LYL1):c.28G>T (p.Val10Leu)	LYL1 (V10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3242727	NC_000019.9:g.(?_13183841)_(13617038_?)del	CACNA1A, IER2 +5 more	Deletion	not provided	GUncertain significance
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2423756	NC_000019.9:g.(?_13135448)_(13419362_?)dup	CACNA1A, IER2 +5 more	Duplication	Developmental and epileptic encephalopathy, 42 +3 more	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 1003316	NC_000019.9:g.(?_13135448)_(13574132_?)dup	NACC1, CACNA1A +5 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 473244	NC_000019.9:g.(?_13106632)_(13428155_?)del	CACNA1A, IER2 +5 more	Deletion	Marshall-Smith syndrome +1 more	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic
Select item 394960	GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3	CACNA1A, IER2 +5 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 58