ClinVar for MedGen (Select 61511) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810420	NM_001145346.2(RBMXL3):c.2635G>A (p.Asp879Asn)	LRCH2, RBMXL3 (D879N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810419	NM_001385682.1(MAP4):c.1370A>G (p.Asn457Ser)	MAP4 (N444S +17 more)	Single nucleotide variant (missense variant +1 more)	Kleine-Levin syndrome	GUncertain significance
Select item 1810418	NM_001385682.1(MAP4):c.5800_5820del (p.Ser1934_Pro1940del)	MAP4	Deletion (inframe_indel)	Kleine-Levin syndrome	GUncertain significance
Select item 1810416	NM_017677.4(MTMR8):c.1951G>A (p.Asp651Asn)	MTMR8 (D651N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810415	NM_003491.4(NAA10):c.139G>A (p.Asp47Asn)	NAA10 (D47N)	Single nucleotide variant (missense variant)	Kleine-Levin syndrome	GUncertain significance
Select item 1810414	NM_015103.3(PLXND1):c.5629A>G (p.Ile1877Val)	PLXND1 (I1877V)	Single nucleotide variant (missense variant)	Kleine-Levin syndrome	GUncertain significance
Select item 708071	NM_015103.3(PLXND1):c.889G>A (p.Ala297Thr)	PLXND1 (A297T)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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