Related gene-specific medical variations for Gene (Select 64788) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357156	NM_022773.4(LMF1):c.514+135A>T	LMF1, LMF1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	LMF1-related disorder	GLikely benign
Select item 3345650	NM_022773.4(LMF1):c.514+218C>A	LMF1, LMF1-AS1 (T27K)	Single nucleotide variant (non-coding transcript variant +2 more)	LMF1-related disorder	GUncertain significance
Select item 3290940	NM_022773.4(LMF1):c.136A>C (p.Thr46Pro)	LMF1, LOC130058141 (T46P)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 3290920	NM_022773.4(LMF1):c.66C>T (p.Tyr22=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 3290915	NM_022773.4(LMF1):c.512T>G (p.Phe171Cys)	LMF1, LMF1-AS1 (F62C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227815	NM_022773.4(LMF1):c.59C>T (p.Thr20Ile)	LMF1, LOC130058141 (T20I)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227808	NM_022773.4(LMF1):c.178C>G (p.Leu60Val)	LMF1, LOC130058141 (L60V)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227807	NM_022773.4(LMF1):c.157del (p.Arg53fs)	LMF1, LOC130058141 (R53fs)	Deletion (frameshift variant +3 more)	Cardiovascular phenotype	GPathogenic
Select item 3045975	NC_000016.10:g.970985G>A	LMF1, LOC130058141	Single nucleotide variant (5 prime UTR variant +1 more)	LMF1-related disorder	GLikely benign
Select item 3011463	NM_022773.4(LMF1):c.510_513del (p.Phe171fs)	LMF1, LMF1-AS1 (F62fs +1 more)	Deletion (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2985121	NM_022773.4(LMF1):c.514+10A>T	LMF1, LMF1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2907638	NM_022773.4(LMF1):c.54G>A (p.Arg18=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2868195	NM_022773.4(LMF1):c.93C>T (p.Pro31=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2847169	NM_022773.4(LMF1):c.56A>C (p.Lys19Thr)	LMF1, LOC130058141 (K19T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2803699	NM_022773.4(LMF1):c.49A>C (p.Arg17=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2789167	NM_022773.4(LMF1):c.149G>A (p.Trp50Ter)	LMF1, LOC130058141 (W50*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 2634249	NM_022773.4(LMF1):c.514+254G>A	LMF1, LMF1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	LMF1-related disorder	GUncertain significance
Select item 2633536	NM_022773.4(LMF1):c.68C>A (p.Ser23Ter)	LMF1, LOC130058141 (S23*)	Single nucleotide variant (nonsense +3 more)	LMF1-related disorder	GLikely pathogenic
Select item 2624769	NM_022773.4(LMF1):c.113C>T (p.Ala38Val)	LMF1, LOC130058141 (A38V)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2584630	NM_022773.4(LMF1):c.514+2452G>A	LMF1, LMF1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Lipase deficiency, combined	GUncertain significance
Select item 2566299	NM_022773.4(LMF1):c.87G>C (p.Ser29=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 2566296	NM_022773.4(LMF1):c.134A>T (p.His45Leu)	LMF1, LOC130058141 (H45L)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2566294	NM_022773.4(LMF1):c.69G>A (p.Ser23=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 2566286	NM_022773.4(LMF1):c.88C>T (p.Pro30Ser)	LMF1, LOC130058141 (P30S)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2566282	NM_022773.4(LMF1):c.41C>T (p.Ser14Leu)	LMF1, LOC130058141 (S14L)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2451807	NM_022773.4(LMF1):c.115G>C (p.Gly39Arg)	LMF1, LOC130058141 (G39R)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447055	NM_022773.4(LMF1):c.67T>C (p.Ser23Pro)	LMF1, LOC130058141 (S23P)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447054	NM_022773.4(LMF1):c.112G>A (p.Ala38Thr)	LMF1, LOC130058141 (A38T)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447053	NM_022773.4(LMF1):c.70G>T (p.Asp24Tyr)	LMF1, LOC130058141 (D24Y)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2352397	NM_022773.4(LMF1):c.166C>T (p.Leu56Phe)	LMF1, LOC130058141 (L56F)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2318116	NM_022773.4(LMF1):c.77A>C (p.Glu26Ala)	LMF1, LOC130058141 (E26A)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2267401	NM_022773.4(LMF1):c.80C>A (p.Pro27His)	LMF1, LOC130058141 (P27H)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2255582	NM_022773.4(LMF1):c.157C>T (p.Arg53Trp)	LMF1, LOC130058141 (R53W)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1981051	NM_022773.4(LMF1):c.43C>T (p.Leu15=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1958720	NM_022773.4(LMF1):c.193+2_193+3del	LMF1, LOC130058141	Microsatellite (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1952226	NM_022773.4(LMF1):c.75G>C (p.Pro25=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1925562	NM_022773.4(LMF1):c.193+11G>A	LMF1, LOC130058141	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1803897	NM_022773.4(LMF1):c.1530-1373C>G	LMF1	Single nucleotide variant (intron variant)	Lipase deficiency, combined	GUncertain significance
Select item 1803852	NM_022773.4(LMF1):c.57G>C (p.Lys19Asn)	LMF1, LOC130058141 (K19N)	Single nucleotide variant (5 prime UTR variant +3 more)	Lipase deficiency, combined	GUncertain significance
Select item 1803841	NM_022773.4(LMF1):c.602C>T (p.Pro201Leu)	LMF1 (P201L +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Lipase deficiency, combined	GUncertain significance
Select item 1803830	NM_022773.4(LMF1):c.1392G>T (p.Trp464Cys)	LMF1 (W247C +3 more)	Single nucleotide variant (missense variant +2 more)	Lipase deficiency, combined	GUncertain significance
Select item 1783041	NM_022773.4(LMF1):c.106G>A (p.Gly36Ser)	LMF1, LOC130058141 (G36S)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1782052	NM_022773.4(LMF1):c.188T>A (p.Val63Glu)	LMF1, LOC130058141 (V63E)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1781122	NM_022773.4(LMF1):c.183C>T (p.Ala61=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1779766	NM_022773.4(LMF1):c.176C>T (p.Ala59Val)	LMF1, LOC130058141 (A59V)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1776142	NM_022773.4(LMF1):c.15C>T (p.Ser5=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1773142	NM_022773.4(LMF1):c.145T>G (p.Phe49Val)	LMF1, LOC130058141 (F49V)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1771518	NM_022773.4(LMF1):c.138G>C (p.Thr46=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1768248	NM_022773.4(LMF1):c.97C>T (p.Pro33Ser)	LMF1, LOC130058141 (P33S)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1766490	NM_022773.4(LMF1):c.92C>T (p.Pro31Leu)	LMF1, LOC130058141 (P31L)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1765814	NM_022773.4(LMF1):c.90G>T (p.Pro30=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1756578	NM_022773.4(LMF1):c.69G>C (p.Ser23=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1755997	NM_022773.4(LMF1):c.101G>A (p.Gly34Glu)	LMF1, LOC130058141 (G34E)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1745544	NM_022773.4(LMF1):c.512T>C (p.Phe171Ser)	LMF1, LMF1-AS1 (F171S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Lipase deficiency, combined +1 more	GUncertain significance
Select item 1745343	NM_022773.4(LMF1):c.50G>A (p.Arg17Lys)	LMF1, LOC130058141 (R17K)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1741806	NM_022773.4(LMF1):c.45G>T (p.Leu15=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 1741802	NM_022773.4(LMF1):c.45G>C (p.Leu15=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1737845	NM_022773.4(LMF1):c.40T>A (p.Ser14Thr)	LMF1, LOC130058141 (S14T)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1731021	NM_022773.4(LMF1):c.33C>T (p.Pro11=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1399714	NM_022773.4(LMF1):c.514G>A (p.Gly172Arg)	LMF1, LMF1-AS1 (G172R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 1365546	NM_022773.4(LMF1):c.78G>C (p.Glu26Asp)	LMF1, LOC130058141 (E26D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1359644	NM_022773.4(LMF1):c.58A>T (p.Thr20Ser)	LMF1, LOC130058141 (T20S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1304818	NM_022773.4(LMF1):c.16C>A (p.Pro6Thr)	LMF1, LOC130058141 (P6T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1271022	NM_022773.4(LMF1):c.514+241C>G	LMF1, LMF1-AS1 (R35G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1265342	NM_001352017.2(LMF1):c.-611+10126_-611+10144del	LMF1, LOC130058141	Microsatellite (intron variant)	not provided	GBenign
Select item 1262034	NM_022773.4(LMF1):c.107G>A (p.Gly36Asp)	LMF1, LOC130058141 (G36D)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign
Select item 1250664	NM_022773.4(LMF1):c.514+131G>T	LMF1, LMF1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1242679	NM_001352017.2(LMF1):c.-611+10144G>T	LMF1, LOC130058141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240538	NM_001352017.2(LMF1):c.-611+9879C>T	LMF1, LOC130058141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235310	NM_022773.4(LMF1):c.504-190C>T	LMF1, LMF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1201288	NM_022773.4(LMF1):c.81T>C (p.Pro27=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1188220	NM_022773.4(LMF1):c.193+56C>T	LMF1, LOC130058141	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186510	NM_022773.4(LMF1):c.514+227G>A	LMF1, LMF1-AS1 (R30H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 790161	NM_022773.4(LMF1):c.95C>T (p.Ala32Val)	LMF1, LOC130058141 (A32V)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign/Likely benign
Select item 790160	NM_022773.4(LMF1):c.117C>A (p.Gly39=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign/Likely benign

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Items: 75