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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58795	GRCh38/hg38 Yp11.2(chrY:2783624-5104946)x2	LINC00278, LOC108178989 +7 more	Copy number gain	See cases	GPathogenic
Select item 58764	GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 58800	GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2	LOC108178989, RPS4Y1 +3 more	Copy number gain	See cases	GPathogenic
Select item 1806680	NM_003140.3(SRY):c.603G>A (p.Trp201Ter)	SRY (W201*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 703672	NM_003140.3(SRY):c.465C>T (p.Ser155=)	SRY	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3338847	NM_003140.3(SRY):c.179T>C (p.Val60Ala)	SRY (V60A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9739	NM_003140.3(SRY):c.178G>C (p.Val60Leu)	SRY (V60L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 253653	GRCh37/hg19 Yp11.32-q12(chrY:100002-59353228)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253625	GRCh37/hg19 Yp11.32-q12(chrY:10701-59349277)x1	AMELY, BPY2 +82 more	Copy number loss	See cases	GPathogenic
Select item 253609	GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253556	GRCh37/hg19 Yp11.32-q11.221(chrY:100002-15906224)x2	AMELY, DDX3Y +38 more	Copy number gain	See cases	GPathogenic
Select item 253542	GRCh37/hg19 Yp11.32-q12(chrY:21267-59337042)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 253518	GRCh37/hg19 Yp11.32-q12(chrY:21267-59349649)x2	RBMY1J, RPS4Y1 +82 more	Copy number gain	See cases	GPathogenic
Select item 253481	GRCh37/hg19 Yp11.32-q12(chrY:126426-59349649)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253428	GRCh37/hg19 Yp11.32-q12(chrY:20297-59358845)x2	TSPY3, TSPY4 +82 more	Copy number gain	See cases	GPathogenic