"GeneDx"[submitter] AND "MYL1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1242873	NM_079420.3(MYL1):c.478+121A>T	MYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227782	NM_079420.3(MYL1):c.478+114A>G	MYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225443	NM_079420.3(MYL1):c.304+146C>T	MYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277854	NM_079420.3(MYL1):c.304+53GT[15]	MYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1270944	NM_079420.3(MYL1):c.304+53GT[19]	MYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1253918	NM_079420.3(MYL1):c.304+53GT[18]	MYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1244285	NM_079420.3(MYL1):c.304+53GT[17]	MYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1286878	NM_079420.3(MYL1):c.304+53GT[13]	MYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1294855	NM_079420.3(MYL1):c.160+80T>A	MYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294865	NM_079420.3(MYL1):c.133-476G>A	MYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221134	NM_079420.3(MYL1):c.133-943_133-942insG	MYL1	Insertion (intron variant)	not provided	GBenign
Select item 1297941	NM_079420.3(MYL1):c.133-963T>C	MYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239346	NM_079420.3(MYL1):c.133-1107T>G	MYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232674	NM_079420.3(MYL1):c.32T>C (p.Val11Ala)	MYL1 (V11A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1247049	NM_079420.3(MYL1):c.1dup (p.Met1fs)	MYL1 (M1fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GBenign
Select item 1257863	NC_000002.12:g.210315181C>T	MYL1	Single nucleotide variant	not provided	GBenign
Select item 1274479	NC_000002.12:g.210315359dup	MYL1	Duplication	not provided	GBenign