"GeneDx"[submitter] AND "MYH7B"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 450494	NM_020884.7(MYH7B):c.1631C>T (p.Pro544Leu)	MYH7B (P544L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422770	NM_020884.7(MYH7B):c.2238del (p.Lys747fs)	MYH7B (K747fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 510873	NM_020884.7(MYH7B):c.2451G>A (p.Ala817=)	MYH7B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 450401	NM_020884.7(MYH7B):c.2467T>C (p.Trp823Arg)	MYH7B (W823R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450402	NM_020884.7(MYH7B):c.2629C>T (p.Arg877Cys)	MYH7B (R877C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1300270	NM_020884.7(MYH7B):c.3084C>T (p.Thr1028=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 372426	NM_020884.7(MYH7B):c.3440C>T (p.Ala1147Val)	MYH7B (A1147V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1296956	NM_020884.7(MYH7B):c.3843C>T (p.Ser1281=)	MYH7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 373165	NM_020884.7(MYH7B):c.3929G>A (p.Arg1310His)	MYH7B (R1310H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1238082	NM_020884.7(MYH7B):c.4530G>C (p.Lys1510Asn)	MYH7B (K1510N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 422771	NM_020884.7(MYH7B):c.4865AGA[2] (p.Lys1624del)	MYH7B (K1624del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance