"Ambry Genetics"[submitter] AND "LOC130058141"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3227807	NM_022773.4(LMF1):c.157del (p.Arg53fs)	LMF1, LOC130058141 (R53fs)	Deletion (frameshift variant +3 more)	Cardiovascular phenotype	GPathogenic
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 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 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 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
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 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 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 1262034	NM_022773.4(LMF1):c.107G>A (p.Gly36Asp)	LMF1, LOC130058141 (G36D)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype +1 more	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 1756578	NM_022773.4(LMF1):c.69G>C (p.Ser23=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
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 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 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)	LMF1-related condition +2 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 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 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 1776142	NM_022773.4(LMF1):c.15C>T (p.Ser5=)	LMF1, LOC130058141	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign

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Items: 38