"GeneDx"[submitter] AND "LOC114827850"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 696115	NM_000432.4(MYL2):c.30C>T (p.Ala10=)	MYL2, LOC114827850	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 181423	NM_000432.4(MYL2):c.28G>A (p.Ala10Thr)	LOC114827850, MYL2 (A10T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 181422	NM_000432.4(MYL2):c.14A>G (p.Lys5Arg)	LOC114827850, MYL2 (K5R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 426273	NM_000432.4(MYL2):c.6del (p.Pro3fs)	LOC114827850, MYL2 (P3fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 178888	NM_000432.4(MYL2):c.4-14del	LOC114827850, MYL2	Deletion (intron variant)	Hypertrophic cardiomyopathy 10 +2 more	GBenign
Select item 43474	NM_000432.4(MYL2):c.4-14C>T	MYL2, LOC114827850	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign
Select item 181412	NM_000432.4(MYL2):c.4-18G>A	MYL2, LOC114827850	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10 +1 more	GBenign/Likely benign
Select item 1238524	NM_000432.4(MYL2):c.4-77A>T	LOC114827850, MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196277	NM_000432.4(MYL2):c.4-213A>G	LOC114827850, MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208322	NM_000432.4(MYL2):c.3+254C>T	LOC114827850, MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212658	NM_000432.4(MYL2):c.3+249A>G	LOC114827850, MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672785	NM_000432.4(MYL2):c.3+218del	LOC114827850, MYL2	Deletion (intron variant)	not provided	GBenign
Select item 1204148	NM_000432.4(MYL2):c.3+202G>A	LOC114827850, MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671319	NM_000432.4(MYL2):c.3+97C>T	MYL2, LOC114827850	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671318	NM_000432.4(MYL2):c.3+65G>A	LOC114827850, MYL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251534	NM_000432.4(MYL2):c.3+33C>T	LOC114827850, MYL2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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
Select item 1236588	NM_000432.4(MYL2):c.-27G>A	LOC114827850, MYL2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1244571	NM_000432.4(MYL2):c.-45G>A	LOC114827850, MYL2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 138396	NM_000432.4(MYL2):c.-46G>A	LOC114827850, MYL2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1187555	NC_000012.12:g.110920764A>C	LOC114827850, MYL2	Single nucleotide variant	not provided	GLikely benign

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Items: 32