"Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Ch - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177296	NM_003140.3(SRY):c.196G>C (p.Ala66Pro)	SRY (A66P)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GLikely pathogenic
Select item 1703659	GRCh37/hg19 Yp11.32-q12(chrY:1-59373566)	AMELY, BPY2 +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703656	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7114097)	AMELY, FAM197Y9 +13 more	Copy number gain	46,XX sex reversal 1	GPathogenic

Format

Sort by

Choose Destination