Related gene-specific medical variations for Gene (Select 8796) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2603821	NM_144777.3(SCEL):c.952C>G (p.Gln318Glu)	SCEL, SCEL-AS1 (Q298E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555627	NM_144777.3(SCEL):c.991G>A (p.Glu331Lys)	SCEL, SCEL-AS1 (E311K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462798	NM_144777.3(SCEL):c.1028C>T (p.Thr343Met)	SCEL, SCEL-AS1 (T321M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351318	NM_144777.3(SCEL):c.1121T>A (p.Ile374Asn)	SCEL, SCEL-AS1 (I354N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2347147	NM_144777.3(SCEL):c.1154C>T (p.Thr385Met)	SCEL-AS1, SCEL (T385M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305912	NM_144777.3(SCEL):c.1079G>A (p.Gly360Glu)	SCEL, SCEL-AS1 (G340E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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