C0431663[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic
Select item 523241	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Vascular dilatation +8 more	GPathogenic
Select item 523240	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Hypoplasia of scrotum +5 more	GPathogenic
Select item 374133	NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs)	ARID1B (L439fs +3 more)	Deletion (frameshift variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 523360	NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)	ABCC8 (G342W +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +13 more	GConflicting classifications of pathogenicity
Select item 523390	NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)	PHF6 (R319P)	Single nucleotide variant (missense variant)	Macrocephaly +7 more	GUncertain significance

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