LIMA1[gene] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 2606871	NM_016357.5(LIMA1):c.2221T>G (p.Ser741Ala)	LIMA1 (S439A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475401	NM_016357.5(LIMA1):c.2123C>T (p.Ser708Leu)	LIMA1 (S549L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340881	NM_016357.5(LIMA1):c.2099A>G (p.Gln700Arg)	LIMA1 (Q701R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340176	NM_016357.5(LIMA1):c.2087A>C (p.Gln696Pro)	LIMA1 (Q394P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520971	NM_016357.5(LIMA1):c.2048G>A (p.Gly683Asp)	LIMA1 (G524D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551419	NM_016357.5(LIMA1):c.1998T>G (p.Ser666Arg)	LIMA1 (S649R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118834	NM_016357.5(LIMA1):c.1971A>C (p.Glu657Asp)	LIMA1 (E355D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118833	NM_016357.5(LIMA1):c.1849A>G (p.Ser617Gly)	LIMA1 (S315G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528264	NM_016357.5(LIMA1):c.1808A>C (p.Lys603Thr)	LIMA1 (K444T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118832	NM_016357.5(LIMA1):c.1696G>A (p.Glu566Lys)	LIMA1 (E489K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118831	NM_016357.5(LIMA1):c.1604C>A (p.Pro535His)	LIMA1 (P444H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397444	NM_016357.5(LIMA1):c.1591G>A (p.Ala531Thr)	LIMA1 (A514T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367872	NM_016357.5(LIMA1):c.1522A>T (p.Met508Leu)	LIMA1 (M491L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611324	NM_016357.5(LIMA1):c.1492A>G (p.Ile498Val)	LIMA1 (I481V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118830	NM_016357.5(LIMA1):c.1436C>T (p.Ala479Val)	LIMA1 (A320V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549940	NM_016357.5(LIMA1):c.1411A>G (p.Asn471Asp)	LIMA1 (N169D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276888	NM_016357.5(LIMA1):c.1295T>C (p.Leu432Ser)	LIMA1 (L273S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352174	NM_016357.5(LIMA1):c.1100C>T (p.Ala367Val)	LIMA1 (A290V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118829	NM_016357.5(LIMA1):c.1082T>G (p.Leu361Arg)	LIMA1 (L270R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042369	NM_016357.5(LIMA1):c.973-4G>T	LIMA1	Single nucleotide variant (intron variant)	LIMA1-related disorder	GLikely benign
Select item 3042072	NM_016357.5(LIMA1):c.973-8_973-5del	LIMA1	Deletion (intron variant)	LIMA1-related disorder	GLikely benign
Select item 559499	NM_016357.5(LIMA1):c.916_923del (p.Lys306fs)	LIMA1 (K306fs +4 more)	Deletion (frameshift variant)	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8	Gassociation
Select item 3118838	NM_016357.5(LIMA1):c.743C>T (p.Ser248Leu)	LIMA1 (S248L +2 more)	Single nucleotide variant (intron variant +1 more)	not specified	GLikely benign
Select item 3118837	NM_016357.5(LIMA1):c.686A>G (p.Tyr229Cys)	LIMA1 (Y138C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570139	NM_016357.5(LIMA1):c.637C>T (p.Arg213Trp)	LIMA1 (R213W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480093	NM_016357.5(LIMA1):c.628A>G (p.Lys210Glu)	LIMA1 (K210E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477934	NM_016357.5(LIMA1):c.548C>A (p.Ala183Asp)	LIMA1 (A183D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264261	NM_016357.5(LIMA1):c.540C>A (p.Asn180Lys)	LIMA1 (N89K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264260	NM_016357.5(LIMA1):c.535G>A (p.Glu179Lys)	LIMA1 (E19K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322278	NM_016357.5(LIMA1):c.451C>A (p.Leu151Ile)	LIMA1 (L60I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511203	NM_016357.5(LIMA1):c.412G>A (p.Val138Ile)	LIMA1 (V138I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3050485	NM_016357.5(LIMA1):c.385A>C (p.Arg129=)	LIMA1	Single nucleotide variant (synonymous variant +2 more)	LIMA1-related disorder	GLikely benign
Select item 2282332	NM_016357.5(LIMA1):c.293G>T (p.Arg98Met)	LIMA1 (R98M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601174	NM_016357.5(LIMA1):c.271C>T (p.Arg91Trp)	LIMA1 (R91W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3033633	NM_016357.5(LIMA1):c.270A>G (p.Leu90=)	LIMA1	Single nucleotide variant (synonymous variant +2 more)	LIMA1-related disorder	GLikely benign
Select item 2455497	NM_016357.5(LIMA1):c.260C>G (p.Thr87Arg)	LIMA1 (T87R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3060422	NM_016357.5(LIMA1):c.237A>G (p.Pro79=)	LIMA1	Single nucleotide variant (synonymous variant +2 more)	LIMA1-related disorder	GBenign
Select item 2560212	NM_016357.5(LIMA1):c.190T>G (p.Phe64Val)	LIMA1 (F64V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217003	NM_016357.5(LIMA1):c.161G>T (p.Arg54Ile)	LIMA1 (R54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559500	NM_016357.5(LIMA1):c.73C>A (p.Leu25Ile)	LIMA1 (L25I)	Single nucleotide variant (missense variant)	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8	Gassociation
Select item 3118835	NM_016357.5(LIMA1):c.25C>T (p.Arg9Trp)	LIMA1 (R9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 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: 48