ClinVar for MedGen (Select 98390) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684498	NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter)	MYH10 (R749* +3 more)	Single nucleotide variant (nonsense)	Obesity +4 more	GUncertain significance
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 374174	NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)	TFAP2B (S277W)	Single nucleotide variant (missense variant)	Char syndrome +5 more	GUncertain significance
Select item 268023	46;X;t(X;21)(q26.1;q21.22)dn		Translocation	Camptodactyly of finger +15 more	GUncertain significance
Select item 268016	46;XY;inv(1)(p22.3p34.1)dn		Inversion	Hypertelorism +8 more	GPathogenic
Select item 267936	46;XY;t(12;14)(q15;q13)mat		Translocation	Aphasia +14 more	GUncertain significance
Select item 267916	46;XY;t(10;14)(q11.2;q21)dn		Translocation	Specific learning disability +7 more	GUncertain significance
Select item 267902	46;XY;t(3;5)(q24;p15.3)dn		Translocation	Delayed speech and language development +13 more	GPathogenic
Select item 267856	46;XY;t(7;15)(q21;q26)dn		Translocation	Decreased body weight +16 more	GLikely pathogenic

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