C1865384[trait identifier] AND "Department of Research, Sir Ganga Ram - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506387	NM_001385562.1(ARPP21):c.2325G>T (p.Gln775His)	ARPP21 (Q487H +15 more)	Single nucleotide variant (missense variant +1 more)	Monomelic amyotrophy	GUncertain significance
Select item 2500146	NM_003061.3(SLIT1):c.2276T>A (p.Ile759Asn)	SLIT1 (I759N)	Single nucleotide variant (missense variant)	Monomelic amyotrophy	GLikely pathogenic
Select item 707389	NM_001036.6(RYR3):c.4505G>T (p.Arg1502Leu)	RYR3 (R1502L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign

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