ClinVar for MedGen (Select 811137) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445666	NM_001039876.3(SYNE4):c.336C>A (p.Cys112Ter)	SYNE4 (C112*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 76 +1 more	GPathogenic
Select item 2414004	NM_001039876.3(SYNE4):c.458G>A (p.Arg153His)	SYNE4 (R153H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1376639	NM_001039876.3(SYNE4):c.601C>A (p.Leu201Met)	SYNE4 (L201M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 76 +2 more	GUncertain significance
Select item 228294	NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)	SYNE4 (W233* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 227091	NM_001039876.3(SYNE4):c.834G>C (p.Gln278His)	SYNE4 (Q278H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 227084	NM_001039876.3(SYNE4):c.225G>A (p.Pro75=)	SYNE4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 88870	NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs)	SYNE4 (W77fs)	Deletion (frameshift variant)	not provided	GPathogenic

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