"GeneDx"[submitter] AND "HAND1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1282978	NM_004821.3(HAND1):c.543+70A>G	HAND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273310	NM_004821.3(HAND1):c.543+52G>C	HAND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 413857	NM_004821.3(HAND1):c.531G>C (p.Arg177=)	HAND1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 413856	NM_004821.3(HAND1):c.468T>G (p.Ser156=)	HAND1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1263719	NM_004821.3(HAND1):c.-201T>C	HAND1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

ClinVar