ClinVar for MedGen (Select 53006) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523449	NM_002160.4(TNC):c.890A>G (p.Asn297Ser)	TNC (N297S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +3 more	GUncertain significance
Select item 523439	NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala)	DYNC1H1 (D4433A)	Single nucleotide variant (missense variant)	Impaired vibration sensation in the lower limbs +6 more	GUncertain significance
Select item 523306	NC_012920.1:m.14477A>G	MT-ND6	Single nucleotide variant	Cognitive impairment +6 more	GUncertain significance
Select item 209139	NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	CLCN1 (G190S)	Indel (missense variant +1 more)	Myotonia of the upper limb +8 more	GConflicting classifications of pathogenicity
Select item 206978	NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)	SCN2A (S987I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 18249	NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)	SLC25A4 (A123D)	Single nucleotide variant (missense variant)	Progressive sensorineural hearing impairment +9 more	GPathogenic/Likely pathogenic

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