ClinVar for MedGen (Select 4415) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570674	NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)	DHX15 (K443E)	Single nucleotide variant (missense variant)	Seizure +7 more	GUncertain significance
Select item 1804031	NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)	PSMC3 (R304W)	Single nucleotide variant (missense variant)	Microretrognathia +11 more	GPathogenic
Select item 1341468	NM_001110556.2(FLNA):c.7671del (p.Ser2558fs)	FLNA, LOC107988032 (S2550fs +1 more)	Deletion (frameshift variant)	Dysplastic corpus callosum +2 more	GPathogenic
Select item 598962	NM_001270974.2(HYDIN):c.6631G>A (p.Asp2211Asn)	HYDIN (D2211N)	Single nucleotide variant (missense variant)	Patent ductus arteriosus +2 more	GUncertain significance
Select item 598961	NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter)	HYDIN (G3606*)	Single nucleotide variant (nonsense)	Patent ductus arteriosus +2 more	GLikely pathogenic
Select item 268044	46;XX;ins(2;9)(q24.3;p22.1p24.3)dn		Translocation	Delayed speech and language development +19 more	GPathogenic
Select item 268037	46;XY;t(2;14)(p22;q24.3)dn		Translocation	Hypotonia +11 more	GLikely pathogenic
Select item 267968	46;XX;inv(7)(q21.2q34)		Inversion	Patent ductus arteriosus +2 more	GLikely pathogenic
Select item 267941	46;XY;inv(6)(p22q13)dn		Inversion	Hypotonia +22 more	GPathogenic
Select item 267851	46;XX;ins(5;6)(p13;p24p25)dn		Translocation	Isolated Pierre-Robin syndrome +14 more	GPathogenic
Select item 167818	NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)	VANGL1 (R175W +1 more)	Single nucleotide variant (missense variant)	Clubfoot +18 more	GConflicting classifications of pathogenicity
Select item 93752	NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)	FLNA (R921*)	Single nucleotide variant (nonsense)	Ventral hernia +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)	Macrocephaly +18 more	GPathogenic/Likely pathogenic
Select item 13329	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11 (Y62D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 5302	NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	TNFRSF13B (C104R)	Single nucleotide variant (missense variant)	Immune deficiency, familial variable +23 more	GConflicting classifications of pathogenicity; risk factor
Select item 400	NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	INPP5E (R378C)	Single nucleotide variant (missense variant)	Skeletal dysplasia +20 more	GPathogenic/Likely pathogenic