"Ambry Genetics"[submitter] AND "LMF1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1778271	NM_022773.4(LMF1):c.1698C>T (p.Pro566=)	LMF1 (P540S)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2264174	NM_022773.4(LMF1):c.1696C>T (p.Pro566Ser)	LMF1 (P349S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1778206	NM_022773.4(LMF1):c.1694G>T (p.Gly565Val)	LMF1 (G565V +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3290913	NM_022773.4(LMF1):c.1693G>A (p.Gly565Arg)	LMF1 (G456R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1623534	NM_022773.4(LMF1):c.1692C>T (p.Pro564=)	LMF1 (R538W)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1778083	NM_022773.4(LMF1):c.1689G>A (p.Leu563=)	LMF1 (A537T)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1277320	NM_022773.4(LMF1):c.1685C>G (p.Pro562Arg)	LMF1 (P345R +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GBenign
Select item 2451802	NM_022773.4(LMF1):c.1677T>C (p.Arg559=)	LMF1 (W533R)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1777777	NM_022773.4(LMF1):c.1675C>T (p.Arg559Cys)	LMF1 (R342C +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447057	NM_022773.4(LMF1):c.1673A>G (p.Asp558Gly)	LMF1 (D341G +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1536038	NM_022773.4(LMF1):c.1662C>G (p.Pro554=)	LMF1 (L528V)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2622049	NM_022773.4(LMF1):c.1651G>A (p.Glu551Lys)	LMF1 (E442K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1777134	NM_022773.4(LMF1):c.1645C>G (p.Leu549Val)	LMF1 (L440V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1776968	NM_022773.4(LMF1):c.1638G>A (p.Pro546=)	LMF1 (A520T)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2253487	NM_022773.4(LMF1):c.1637C>G (p.Pro546Arg)	LMF1 (P413R +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3290938	NM_022773.4(LMF1):c.1621G>A (p.Gly541Arg)	LMF1 (G408R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1776599	NM_022773.4(LMF1):c.1620C>T (p.Ile540=)	LMF1 (R514W)	Single nucleotide variant (synonymous variant +2 more)	LMF1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1776404	NM_022773.4(LMF1):c.1611G>A (p.Arg537=)	LMF1 (E511K)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2447052	NM_022773.4(LMF1):c.1609C>A (p.Arg537=)	LMF1 (A510E)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 733437	NM_022773.4(LMF1):c.1608G>T (p.Val536=)	LMF1 (A510S)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 2451796	NM_022773.4(LMF1):c.1606G>A (p.Val536Met)	LMF1 (G509D +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 783726	NM_022773.4(LMF1):c.1593G>C (p.Glu531Asp)	LMF1 (E398D +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GBenign
Select item 1775927	NM_022773.4(LMF1):c.1591G>A (p.Glu531Lys)	LMF1 (E398K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1775850	NM_022773.4(LMF1):c.1588G>A (p.Ala530Thr)	LMF1 (A313T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1775829	NM_022773.4(LMF1):c.1587C>T (p.Ala529=)	LMF1 (R503C)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1775769	NM_022773.4(LMF1):c.1584C>T (p.His528=)	LMF1 (R502C)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1775579	NM_022773.4(LMF1):c.1575G>A (p.Gly525=)	LMF1 (G499R)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2624768	NM_022773.4(LMF1):c.1574G>A (p.Gly525Glu)	LMF1 (G392E +4 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 780012	NM_022773.4(LMF1):c.1568G>A (p.Arg523His)	LMF1 (R390H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1775379	NM_022773.4(LMF1):c.1566C>T (p.Ser522=)	LMF1 (P496S)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1775259	NM_022773.4(LMF1):c.1560G>A (p.Lys520=)	LMF1 (V494I)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1775108	NM_022773.4(LMF1):c.1553G>A (p.Arg518Lys)	LMF1 (R301K +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2209292	NM_022773.4(LMF1):c.1552A>G (p.Arg518Gly)	LMF1 (R301G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774973	NM_022773.4(LMF1):c.1548C>T (p.His516=)	LMF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1774922	NM_022773.4(LMF1):c.1545G>A (p.Glu515=)	LMF1 (A489T)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1774868	NM_022773.4(LMF1):c.1542A>G (p.Gly514=)	LMF1 (R488G)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1774759	NM_022773.4(LMF1):c.1538G>A (p.Arg513Gln)	LMF1 (R404Q +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2451797	NM_022773.4(LMF1):c.1528A>G (p.Arg510Gly)	LMF1 (R401G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2514014	NM_022773.4(LMF1):c.1525C>A (p.Pro509Thr)	LMF1 (A482D +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774502	NM_022773.4(LMF1):c.1524G>C (p.Pro508=)	LMF1 (A482P)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1774499	NM_022773.4(LMF1):c.1524G>A (p.Pro508=)	LMF1 (A482T)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3227806	NM_022773.4(LMF1):c.1521C>T (p.Pro507=)	LMF1 (P481S)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1774362	NM_022773.4(LMF1):c.1518G>T (p.Arg506Ser)	LMF1 (R289S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774243	NM_022773.4(LMF1):c.1512G>A (p.Ala504=)	LMF1 (G478R)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1416207	NM_022773.4(LMF1):c.1511C>T (p.Ala504Val)	LMF1 (A287V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1774204	NM_022773.4(LMF1):c.1510G>A (p.Ala504Thr)	LMF1 (A371T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774133	NM_022773.4(LMF1):c.1509C>T (p.Phe503=)	LMF1 (R477C)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2451791	NM_022773.4(LMF1):c.1502A>T (p.Asn501Ile)	LMF1 (N368I +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2562229	NM_022773.4(LMF1):c.1496C>T (p.Ala499Val)	LMF1 (A499V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1773577	NM_022773.4(LMF1):c.1481C>G (p.Ala494Gly)	LMF1 (A361G +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2451792	NM_022773.4(LMF1):c.1479G>C (p.Glu493Asp)	LMF1 (E276D +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227805	NM_022773.4(LMF1):c.1477G>C (p.Glu493Gln)	LMF1 (E276Q +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2516624	NM_022773.4(LMF1):c.1477G>A (p.Glu493Lys)	LMF1 (E360K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 768736	NM_022773.4(LMF1):c.1476C>T (p.Ala492=)	LMF1 (R466*)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2562230	NM_022773.4(LMF1):c.1474G>A (p.Ala492Thr)	LMF1 (A383T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 786832	NM_022773.4(LMF1):c.1473C>T (p.Asp491=)	LMF1 (R465C)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 753950	NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)	LMF1 (R464Q +4 more)	Single nucleotide variant (missense variant +1 more)	Lipase deficiency, combined +2 more	GConflicting classifications of pathogenicity
Select item 708701	NM_022773.4(LMF1):c.1470C>T (p.Ser490=)	LMF1 (R464*)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3227804	NM_022773.4(LMF1):c.1462C>T (p.Leu488=)	LMF1 (P461L)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1773152	NM_022773.4(LMF1):c.1460T>C (p.Leu487Pro)	LMF1 (L487P +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1772962	NM_022773.4(LMF1):c.1451C>T (p.Ala484Val)	LMF1 (A375V +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227803	NM_022773.4(LMF1):c.1443C>G (p.Ile481Met)	LMF1 (I264M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1772749	NM_022773.4(LMF1):c.1443C>T (p.Ile481=)	LMF1 (P455S)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2451806	NM_022773.4(LMF1):c.1441A>G (p.Ile481Val)	LMF1 (I264V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1803820	NM_022773.4(LMF1):c.1432G>A (p.Asp478Asn)	LMF1 (D261N +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1772538	NM_022773.4(LMF1):c.1432G>T (p.Asp478Tyr)	LMF1 (D345Y +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 744333	NM_022773.4(LMF1):c.1431C>T (p.Asn477=)	LMF1 (R451*)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1772388	NM_022773.4(LMF1):c.1427A>C (p.His476Pro)	LMF1 (H259P +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1772314	NM_022773.4(LMF1):c.1423G>A (p.Glu475Lys)	LMF1 (E366K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1772286	NM_022773.4(LMF1):c.1422C>T (p.Tyr474=)	LMF1 (R448*)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1771927	NM_022773.4(LMF1):c.1407G>A (p.Ala469=)	LMF1	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1090695	NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr)	LMF1 (A252T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1771875	NM_022773.4(LMF1):c.1404C>T (p.Phe468=)	LMF1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1771644	NM_022773.4(LMF1):c.1396A>T (p.Met466Leu)	LMF1 (M333L +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1771054	NM_022773.4(LMF1):c.1371G>A (p.Pro457=)	LMF1	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 3119262	NM_022773.4(LMF1):c.1370C>T (p.Pro457Leu)	LMF1 (P324L +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 785517	NM_022773.4(LMF1):c.1362C>T (p.Leu454=)	LMF1	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1770765	NM_022773.4(LMF1):c.1359C>T (p.Cys453=)	LMF1	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1770704	NM_022773.4(LMF1):c.1356C>T (p.Pro452=)	LMF1	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1512346	NM_022773.4(LMF1):c.1352G>A (p.Arg451Gln)	LMF1 (R342Q +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 782342	NM_022773.4(LMF1):c.1351C>T (p.Arg451Trp)	LMF1 (R342W +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 3227802	NM_022773.4(LMF1):c.1346G>A (p.Ser449Asn)	LMF1 (S232N +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1677611	NM_022773.4(LMF1):c.1323del (p.Phe441fs)	LMF1 (F224fs +3 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 2566297	NM_022773.4(LMF1):c.1318G>C (p.Glu440Gln)	LMF1 (E307Q +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1769832	NM_022773.4(LMF1):c.1318G>A (p.Glu440Lys)	LMF1 (E223K +3 more)	Single nucleotide variant (missense variant +1 more)	Lipase deficiency, combined +1 more	GUncertain significance
Select item 1769812	NM_022773.4(LMF1):c.1317C>T (p.Tyr439=)	LMF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2077435	NM_022773.4(LMF1):c.1297G>A (p.Asp433Asn)	LMF1 (D300N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1769214	NM_022773.4(LMF1):c.1296C>T (p.Pro432=)	LMF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227801	NM_022773.4(LMF1):c.1293C>T (p.Ala431=)	LMF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 522335	NM_022773.4(LMF1):c.1292C>A (p.Ala431Asp)	LMF1 (A431D +3 more)	Single nucleotide variant (missense variant +1 more)	Lipase deficiency, combined +2 more	GBenign/Likely benign
Select item 2483646	NM_022773.4(LMF1):c.1290C>A (p.Ser430Arg)	LMF1 (S430R +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1185847	NM_022773.4(LMF1):c.1290C>T (p.Ser430=)	LMF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 3290930	NM_022773.4(LMF1):c.1288A>G (p.Ser430Gly)	LMF1 (S321G +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2167403	NM_022773.4(LMF1):c.1286C>T (p.Ala429Val)	LMF1 (A212V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1768630	NM_022773.4(LMF1):c.1284C>T (p.Asn428=)	LMF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2220333	NM_022773.4(LMF1):c.1280C>G (p.Ser427Cys)	LMF1 (S210C +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1414931	NM_022773.4(LMF1):c.1271C>G (p.Thr424Arg)	LMF1 (T291R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3290931	NM_022773.4(LMF1):c.1268G>A (p.Gly423Asp)	LMF1 (G206D +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2531758	NM_022773.4(LMF1):c.1265A>G (p.Gln422Arg)	LMF1 (Q422R +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3119261	NM_022773.4(LMF1):c.1262T>A (p.Leu421Gln)	LMF1 (L204Q +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance

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