ClinVar for MedGen (Select 856149) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065304	NM_004447.6(EPS8):c.676C>T (p.Gln226Ter)	EPS8 (Q146* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 102	GLikely pathogenic
Select item 2505089	NM_004447.6(EPS8):c.1490T>A (p.Ile497Asn)	EPS8 (I237N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1409590	NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp)	EPS8 (R702W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 102 +1 more	GUncertain significance
Select item 1342940	NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter)	EPS8 (L475*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 102	GPathogenic
Select item 1301461	NM_004447.6(EPS8):c.449C>T (p.Ala150Val)	EPS8 (A150V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1207459	NM_004447.6(EPS8):c.197G>A (p.Arg66His)	EPS8 (R66H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 997682	GRCh37/hg19 12p12.3(chr12:15800060-15865927)	EPS8	Copy number loss	Autosomal recessive nonsyndromic hearing loss 102	GLikely pathogenic
Select item 997681	NM_004447.6(EPS8):c.1435-2A>T	EPS8	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 102	GLikely pathogenic
Select item 761279	NM_004447.6(EPS8):c.871G>T (p.Ala291Ser)	EPS8 (A291S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 102 +1 more	GConflicting classifications of pathogenicity
Select item 560888	NM_004447.6(EPS8):c.205-8A>G	EPS8	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 102	GUncertain significance
Select item 517643	NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile)	EPS8 (T726I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 102 +3 more	GUncertain significance
Select item 509187	NM_004447.6(EPS8):c.1653G>A (p.Ser551=)	EPS8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 508700	NM_004447.6(EPS8):c.104A>G (p.His35Arg)	EPS8 (H35R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 155761	NM_004447.6(EPS8):c.88C>T (p.Gln30Ter)	EPS8 (Q30*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 102	GPathogenic