C1956097[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029069	NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter)	NSD2 (Q963*)	Single nucleotide variant (nonsense)	4p partial monosomy syndrome	GPathogenic
Select item 625782	GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)	ADGRA3, DHX15 +5 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625700	GRCh37/hg19 4p16.3(chr4:1305802-2460571)	HAUS3, FAM53A +16 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic

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