ClinVar for MedGen (Select 1644094) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570688	NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)	FASN (A418fs)	Microsatellite (frameshift variant)	Hearing impairment +7 more	GUncertain significance
Select item 2570668	NM_024657.5(MORC4):c.676A>G (p.Asn226Asp)	MORC4 (N226D)	Single nucleotide variant (missense variant)	Clinodactyly +4 more	GUncertain significance
Select item 2570667	NM_005938.4(FOXO4):c.449G>A (p.Trp150Ter)	FOXO4 (W95* +1 more)	Single nucleotide variant (nonsense)	Clinodactyly +4 more	GUncertain significance
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Pectus excavatum +17 more	GPathogenic/Likely pathogenic
Select item 523400	NM_001377.3(DYNC2H1):c.9614A>G (p.Gln3205Arg)	DYNC2H1 (Q3205R)	Single nucleotide variant (missense variant)	Clinodactyly +4 more	GUncertain significance
Select item 523274	GRCh37/hg19 22q11.21(chr22:18894835-21505417)	ESS2, SCARF2 +45 more	Copy number loss	Ear malformation +13 more	GPathogenic
Select item 523259	GRCh37/hg19 17p12(chr17:14215739-15422582)	CDRT4, HS3ST3B1 +4 more	Copy number loss	Attention deficit hyperactivity disorder +3 more	GPathogenic
Select item 374121	NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)	RPS6KA3 (A178G)	Single nucleotide variant (missense variant)	Abnormality of the lower limb +13 more	GLikely pathogenic
Select item 267940	45;XY;t(11;18;13;21;17)(p11.2;p11.2;q33;q11;q11)dn		Translocation	Clinodactyly +6 more	GPathogenic
Select item 267816	46;XY;inv(5)(q13q15)dn		Inversion	Partial duplication of thumb phalanx +4 more	GLikely pathogenic
Select item 267803	46;X;t(X;10)(p11.2;q24.3)		Translocation	Clinodactyly +11 more	GUncertain significance
Select item 68499	NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)	SCN1A (R356G)	Single nucleotide variant (missense variant +2 more)	Hip contracture +6 more	GUncertain significance