"Ambry Genetics"[submitter] AND "LOC114827850"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 919586	NM_000432.4(MYL2):c.93+5G>A	MYL2, LOC114827850	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2447209	NM_000432.4(MYL2):c.83_93+1del	LOC114827850, MYL2	Deletion (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 626524	NM_000432.4(MYL2):c.92_93+1del	LOC114827850, MYL2	Microsatellite (splice donor variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 3231730	NM_000432.4(MYL2):c.73C>G (p.Gln25Glu)	LOC114827850, MYL2 (Q25E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1111589	NM_000432.4(MYL2):c.72C>G (p.Thr24=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 181426	NM_000432.4(MYL2):c.64G>T (p.Glu22Ter)	LOC114827850, MYL2 (E22*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 14065	NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	MYL2, LOC114827850 (E22K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 626526	NM_000432.4(MYL2):c.63C>T (p.Phe21=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2587155	NM_000432.4(MYL2):c.61T>G (p.Phe21Val)	LOC114827850, MYL2 (F21V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 181425	NM_000432.4(MYL2):c.53T>C (p.Phe18Ser)	MYL2, LOC114827850 (F18S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +3 more	GConflicting classifications of pathogenicity
Select item 14068	NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)	LOC114827850, MYL2 (F18L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1387258	NM_000432.4(MYL2):c.50T>C (p.Val17Ala)	LOC114827850, MYL2 (V17A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 181424	NM_000432.4(MYL2):c.49G>A (p.Val17Met)	MYL2, LOC114827850 (V17M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +5 more	GUncertain significance
Select item 1118003	NM_000432.4(MYL2):c.48C>T (p.Asn16=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1359362	NM_000432.4(MYL2):c.47del (p.Asn16fs)	LOC114827850, MYL2 (N16fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1017275	NM_000432.4(MYL2):c.47A>G (p.Asn16Ser)	LOC114827850, MYL2 (N16S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3297570	NM_000432.4(MYL2):c.42C>G (p.Asn14Lys)	LOC114827850, MYL2 (N14K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 532775	NM_000432.4(MYL2):c.42C>A (p.Asn14Lys)	LOC114827850, MYL2 (N14K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GUncertain significance
Select item 237783	NM_000432.4(MYL2):c.42C>T (p.Asn14=)	MYL2, LOC114827850	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 1738636	NM_000432.4(MYL2):c.41A>G (p.Asn14Ser)	LOC114827850, MYL2 (N14S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567164	NM_000432.4(MYL2):c.40A>C (p.Asn14His)	LOC114827850, MYL2 (N14H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 14064	NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)	LOC114827850, MYL2 (A13T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43472	NM_000432.4(MYL2):c.36C>T (p.Gly12=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +4 more	GBenign/Likely benign
Select item 43468	NM_000432.4(MYL2):c.33G>A (p.Gly11=)	LOC114827850, MYL2	Single nucleotide variant	Hypertrophic cardiomyopathy 10 +4 more	GBenign/Likely benign
Select item 1727605	NM_000432.4(MYL2):c.30C>G (p.Ala10=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 264577	NM_000432.4(MYL2):c.23A>G (p.Lys8Arg)	LOC114827850, MYL2 (K8R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 520362	NM_000432.4(MYL2):c.20A>G (p.Lys7Arg)	LOC114827850, MYL2 (K7R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1941373	NM_000432.4(MYL2):c.18A>G (p.Ala6=)	LOC114827850, MYL2	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 1761593	NM_000432.4(MYL2):c.7C>T (p.Pro3Ser)	LOC114827850, MYL2 (P3S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 403211	NM_000432.4(MYL2):c.4G>A (p.Ala2Thr)	LOC114827850, MYL2 (A2T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 181430	NM_000432.4(MYL2):c.3+1G>T	LOC114827850, MYL2	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2587156	NM_000432.4(MYL2):c.-1C>T	LOC114827850, MYL2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 181417	NM_000432.4(MYL2):c.-2C>T	LOC114827850, MYL2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 33