ClinVar for MedGen (Select 75607) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1704348	GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3	ADORA2A, BCR +26 more	Copy number gain	Unilateral renal agenesis	GUncertain significance
Select item 997059	GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858)	BCLAF3, EIF1AX +5 more	Copy number gain	Unilateral renal agenesis +1 more	GPathogenic
Select item 691940	NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser)	DHX34 (N441S)	Single nucleotide variant (missense variant)	Microcephaly +5 more	GLikely pathogenic
Select item 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	See cases +20 more	GPathogenic
Select item 586980	NM_153332.4(ERI1):c.627del (p.Lys209_Val210insTer)	ERI1	Deletion (frameshift variant)	Abnormal finger morphology +3 more	GLikely pathogenic
Select item 523570	NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)	FREM2 (R2243*)	Single nucleotide variant (nonsense)	Finger syndactyly +9 more	GPathogenic/Likely pathogenic
Select item 267833	46;XY;t(6;12)(q14;q24);20p+dn		Complex	Growth delay +14 more	GPathogenic
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	SOX3-related condition +28 more	GConflicting classifications of pathogenicity
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	FGFR3-related chondrodysplasia +25 more	GPathogenic/Likely pathogenic

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