ClinVar for MedGen (Select 154361) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710148	NM_001303512.2(PDZD4):c.2208G>C (p.Lys736Asn)	PDZD4 (K621N +5 more)	Single nucleotide variant (missense variant)	Hand tremor +4 more	GUncertain significance
Select item 523241	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Vascular dilatation +8 more	GPathogenic
Select item 268034	46;XY;t(1;10;4)(p32.2;q21.1;q23)dn		Translocation	Intellectual disability +4 more	GUncertain significance

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