"BHLHE41-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041662	NM_030762.3(BHLHE41):c.1323T>A (p.Leu441=)	SSPN, BHLHE41	Single nucleotide variant (synonymous variant)	BHLHE41-related disorder	GLikely benign
Select item 3046119	NM_030762.3(BHLHE41):c.1281CGC[5] (p.Ala431_Thr432insAla)	BHLHE41, SSPN	Microsatellite (inframe insertion)	BHLHE41-related disorder	GLikely benign
Select item 3039300	NM_030762.3(BHLHE41):c.1282G>A (p.Ala428Thr)	BHLHE41, SSPN (A428T)	Single nucleotide variant (missense variant)	BHLHE41-related disorder	GBenign
Select item 3055569	NM_030762.3(BHLHE41):c.1116G>C (p.Leu372=)	BHLHE41, SSPN	Single nucleotide variant (synonymous variant)	BHLHE41-related disorder	GBenign
Select item 3057054	NM_030762.3(BHLHE41):c.893C>T (p.Ala298Val)	BHLHE41, SSPN (A298V)	Single nucleotide variant (missense variant)	BHLHE41-related disorder	GBenign
Select item 3046538	NM_030762.3(BHLHE41):c.844C>T (p.Leu282=)	BHLHE41, SSPN	Single nucleotide variant (synonymous variant)	BHLHE41-related disorder	GLikely benign
Select item 2257146	NM_030762.3(BHLHE41):c.550G>A (p.Val184Ile)	BHLHE41, SSPN (V184I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3045908	NM_030762.3(BHLHE41):c.279G>A (p.Leu93=)	BHLHE41, SSPN	Single nucleotide variant (synonymous variant)	BHLHE41-related disorder	GLikely benign

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