ClinVar for MedGen (Select 871375) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1679340	NM_014255.7(CNPY2):c.46_50del (p.Gly16fs)	CNPY2 (G16fs)	Deletion (frameshift variant)	Abnormality of the face +1 more	GLikely pathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1299338	NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter)	TAOK1 (R435*)	Single nucleotide variant (nonsense)	Global developmental delay +5 more	GPathogenic/Likely pathogenic
Select item 982686	NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter)	UNC13C (R95*)	Single nucleotide variant (nonsense)	Clubfoot +4 more	GUncertain significance
Select item 523523	NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)	HDAC8 (V195G +1 more)	Single nucleotide variant (missense variant +2 more)	Atrial septal defect +5 more	GLikely pathogenic
Select item 93752	NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)	FLNA (R921*)	Single nucleotide variant (nonsense)	Oto-palato-digital syndrome, type II +8 more	GPathogenic/Likely pathogenic
Select item 31946	NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	ABCC9 (R1154W +1 more)	Single nucleotide variant (missense variant)	ABCC9-related disorder +18 more	GPathogenic/Likely pathogenic