"GeneDx"[submitter] AND "SH3GL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 1273325	NM_003025.4(SH3GL1):c.911-200_911-199del	SH3GL1	Deletion (intron variant)	not provided	GBenign
Select item 1238058	NM_003025.4(SH3GL1):c.771C>G (p.Pro257=)	SH3GL1	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia +1 more	GBenign
Select item 1222997	NM_003025.4(SH3GL1):c.728+197C>A	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266548	NM_003025.4(SH3GL1):c.728+78G>A	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273075	NM_003025.4(SH3GL1):c.625-96_625-95del	SH3GL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1257430	NM_003025.4(SH3GL1):c.331+82A>G	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245593	NM_003025.4(SH3GL1):c.187+279T>C	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259762	NM_003025.4(SH3GL1):c.45+7G>A	SH3GL1	Single nucleotide variant (intron variant)	not provided	GBenign