LIMA1[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 3290731	NM_016357.5(LIMA1):c.2257G>C (p.Asp753His)	LIMA1 (D594H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290734	NM_016357.5(LIMA1):c.2234A>G (p.Gln745Arg)	LIMA1 (Q654R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3290732	NM_016357.5(LIMA1):c.1946G>A (p.Gly649Glu)	LIMA1 (G347E +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 3290733	NM_016357.5(LIMA1):c.1666T>C (p.Trp556Arg)	LIMA1 (W254R +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 3290735	NM_016357.5(LIMA1):c.599T>C (p.Met200Thr)	LIMA1 (M200T +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 3290736	NM_016357.5(LIMA1):c.475A>C (p.Lys159Gln)	LIMA1 (K68Q +1 more)	Single nucleotide variant (missense variant +1 more)	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 3290730	NM_016357.5(LIMA1):c.361G>C (p.Glu121Gln)	LIMA1 (E121Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 55