ClinVar for MedGen (Select 1800957) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068005	NM_032242.4(PLXNA1):c.2111A>G (p.Glu704Gly)	PLXNA1 (E704G)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GLikely pathogenic
Select item 3065658	NM_032242.4(PLXNA1):c.3679G>A (p.Glu1227Lys)	PLXNA1 (E1227K)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 3065648	NM_032242.4(PLXNA1):c.1043G>C (p.Arg348Pro)	PLXNA1 (R348P)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 3064773	NM_032242.4(PLXNA1):c.1643A>G (p.Glu548Gly)	PLXNA1 (E548G)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 2689788	NM_032242.4(PLXNA1):c.5596-8C>T	PLXNA1	Single nucleotide variant (intron variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 2689787	NM_032242.4(PLXNA1):c.5182A>G (p.Lys1728Glu)	PLXNA1 (K1728E)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 1711874	NM_032242.4(PLXNA1):c.3020A>T (p.Asn1007Ile)	PLXNA1 (N1007I)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 1695979	NM_032242.4(PLXNA1):c.3230G>A (p.Arg1077His)	PLXNA1 (R1077H)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 1098571	NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro)	PLXNA1 (L119P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 977363	NM_032242.4(PLXNA1):c.1115G>A (p.Arg372His)	PLXNA1 (R372H)	Single nucleotide variant (missense variant)	PLXNA1-related neurodevelopmental disorder +1 more	GUncertain significance
Select item 867238	NM_032242.4(PLXNA1):c.2641C>T (p.Arg881Trp)	PLXNA1 (R881W)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome +1 more	GPathogenic/Likely pathogenic
Select item 867237	NM_032242.4(PLXNA1):c.2446T>C (p.Cys816Arg)	PLXNA1 (C816R)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome +1 more	GPathogenic/Likely pathogenic
Select item 867236	NM_032242.4(PLXNA1):c.1549C>T (p.Gln517Ter)	PLXNA1 (Q517*)	Single nucleotide variant (nonsense)	Dworschak-Punetha neurodevelopmental syndrome +1 more	GPathogenic/Likely pathogenic
Select item 867235	NM_032242.4(PLXNA1):c.1574_1575del (p.Leu525fs)	PLXNA1 (L525fs)	Deletion (frameshift variant)	Dworschak-Punetha neurodevelopmental syndrome +1 more	GPathogenic/Likely pathogenic