LANCL1[gene] - ClinVar

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

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 152244	GRCh38/hg38 2q34(chr2:210165293-211245653)x3	ACADL, CPS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2237817	NM_006055.3(LANCL1):c.1117T>C (p.Phe373Leu)	LANCL1, LANCL1-AS1 (F373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290091	NM_006055.3(LANCL1):c.1007A>G (p.Tyr336Cys)	LANCL1, LANCL1-AS1 (Y336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617907	NM_006055.3(LANCL1):c.992C>G (p.Ala331Gly)	LANCL1, LANCL1-AS1 (A331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290090	NM_006055.3(LANCL1):c.970G>A (p.Gly324Ser)	LANCL1, LANCL1-AS1 (G324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262303	NM_006055.3(LANCL1):c.968A>C (p.His323Pro)	LANCL1, LANCL1-AS1 (H323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463875	NM_006055.3(LANCL1):c.935A>G (p.Tyr312Cys)	LANCL1, LANCL1-AS1 (Y312C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524136	NM_006055.3(LANCL1):c.931C>A (p.Gln311Lys)	LANCL1, LANCL1-AS1 (Q311K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383262	NM_006055.3(LANCL1):c.908A>G (p.Tyr303Cys)	LANCL1, LANCL1-AS1 (Y303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607539	NM_006055.3(LANCL1):c.871A>G (p.Lys291Glu)	LANCL1, LANCL1-AS1 (K291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520846	NM_006055.3(LANCL1):c.853A>G (p.Met285Val)	LANCL1, LANCL1-AS1 (M285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117775	NM_006055.3(LANCL1):c.835G>A (p.Ala279Thr)	LANCL1, LANCL1-AS1 (A279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290092	NM_006055.3(LANCL1):c.664G>A (p.Ala222Thr)	LANCL1, LANCL1-AS1 (A222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622408	NM_006055.3(LANCL1):c.655C>T (p.His219Tyr)	LANCL1, LANCL1-AS1 (H219Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550995	NM_006055.3(LANCL1):c.497A>G (p.Asn166Ser)	LANCL1, LANCL1-AS1 (N166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313358	NM_006055.3(LANCL1):c.492T>G (p.Phe164Leu)	LANCL1, LANCL1-AS1 (F164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117771	NM_006055.3(LANCL1):c.464G>A (p.Arg155Gln)	LANCL1, LANCL1-AS1 (R155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596629	NM_006055.3(LANCL1):c.452T>C (p.Met151Thr)	LANCL1, LANCL1-AS1 (M151T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456117	NM_006055.3(LANCL1):c.440C>A (p.Ala147Asp)	LANCL1, LANCL1-AS1 (A147D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781953	NM_006055.3(LANCL1):c.414T>G (p.Ile138Met)	LANCL1, LANCL1-AS1 (I138M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2289543	NM_006055.3(LANCL1):c.397T>C (p.Cys133Arg)	LANCL1, LANCL1-AS1 (C133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294628	NM_006055.3(LANCL1):c.352G>A (p.Ala118Thr)	LANCL1, LANCL1-AS1 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290093	NM_006055.3(LANCL1):c.286C>G (p.Leu96Val)	LANCL1, LANCL1-AS1 (L96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243028	NM_006055.3(LANCL1):c.281A>G (p.Gln94Arg)	LANCL1, LANCL1-AS1 (Q94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484657	NM_006055.3(LANCL1):c.265C>T (p.His89Tyr)	LANCL1, LANCL1-AS1 (H89Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304034	NM_006055.3(LANCL1):c.247G>A (p.Ala83Thr)	LANCL1, LANCL1-AS1 (A83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117769	NM_006055.3(LANCL1):c.236T>C (p.Phe79Ser)	LANCL1, LANCL1-AS1 (F79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244766	NM_006055.3(LANCL1):c.211C>T (p.Leu71Phe)	LANCL1, LANCL1-AS1 (L71F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117768	NM_006055.3(LANCL1):c.205G>T (p.Ala69Ser)	LANCL1, LANCL1-AS1 (A69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250096	NM_006055.3(LANCL1):c.203T>C (p.Ile68Thr)	LANCL1, LANCL1-AS1 (I68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363537	NM_006055.3(LANCL1):c.202A>T (p.Ile68Phe)	LANCL1, LANCL1-AS1 (I68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407187	NM_006055.3(LANCL1):c.169C>T (p.Arg57Trp)	LANCL1 (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783351	NM_006055.3(LANCL1):c.121C>A (p.Arg41=)	LANCL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3117774	NM_006055.3(LANCL1):c.76G>C (p.Gly26Arg)	LANCL1 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117773	NM_006055.3(LANCL1):c.76G>A (p.Gly26Arg)	LANCL1 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367917	NM_006055.3(LANCL1):c.55G>A (p.Glu19Lys)	LANCL1 (E19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117772	NM_006055.3(LANCL1):c.53C>T (p.Ala18Val)	LANCL1 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117770	NM_006055.3(LANCL1):c.29A>G (p.Tyr10Cys)	LANCL1 (Y10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401361	NM_006055.3(LANCL1):c.20C>T (p.Pro7Leu)	LANCL1 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 671408	NM_001875.4(CPS1):c.-79320T>G	CPS1, LANCL1	Single nucleotide variant	not provided	GBenign
Select item 3247574	NC_000002.11:g.(?_210636797)_(211542709_?)dup	ACADL, CPS1 +5 more	Duplication	not provided	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2427041	NC_000002.11:g.(?_210636797)_(213403254_?)del	MYL1, RPE +6 more	Deletion	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814361	GRCh37/hg19 2q34(chr2:211289241-211376494)x1	LANCL1, CPS1	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 599304	Single allele	ACADL, CPS1 +6 more	Deletion	Trichorhinophalangeal dysplasia type I	GUncertain significance
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 443584	GRCh37/hg19 2q34(chr2:210983281-211744945)x3	ACADL, CPS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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: 67