ClinVar for MedGen (Select 462580) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393407	NM_198999.3(SLC26A5):c.2125G>C (p.Ala709Pro)	SLC26A5 (A677P +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61	GUncertain significance
Select item 3393406	NM_198999.3(SLC26A5):c.1487T>C (p.Leu496Pro)	SLC26A5 (L464P +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61	GUncertain significance
Select item 3393303	NM_198999.3(SLC26A5):c.809G>A (p.Gly270Asp)	SLC26A5 (G270D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 61	GUncertain significance
Select item 3250440	NM_198999.3(SLC26A5):c.1539G>T (p.Lys513Asn)	SLC26A5 (K481N +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61 +1 more	GUncertain significance
Select item 2505543	NM_198999.3(SLC26A5):c.2146del (p.Arg716fs)	SLC26A5 (R684fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61	GLikely pathogenic
Select item 2436007	NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)	SLC26A5 (F614L +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61	GUncertain significance
Select item 2180539	NM_198999.3(SLC26A5):c.646G>A (p.Ala216Thr)	SLC26A5 (A216T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 61 +1 more	GConflicting classifications of pathogenicity
Select item 1383757	NM_198999.3(SLC26A5):c.1061C>A (p.Thr354Asn)	SLC26A5 (T354N)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61 +1 more	GUncertain significance
Select item 1236171	NM_198999.3(SLC26A5):c.949del (p.Val317fs)	SLC26A5 (V317fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1235817	NM_198999.3(SLC26A5):c.1986+30T>C	SLC26A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1033673	NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr)	SLC26A5 (R31T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 61 +1 more	GUncertain significance
Select item 358345	NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln)	SLC26A5 (R689Q +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61 +1 more	GUncertain significance
Select item 165272	NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro)	SLC26A5 (L46P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 61 +2 more	GBenign/Likely benign
Select item 97021	NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter)	SLC26A5 (W70*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 61	GPathogenic
Select item 97020	NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser)	SLC26A5 (R130S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 61	GPathogenic
Select item 48341	NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser)	SLC26A5 (N330S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61 +2 more	GBenign
Select item 48339	NM_198999.3(SLC26A5):c.403+14T>C	SLC26A5	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 61 +2 more	GBenign
Select item 5289	NM_198999.3(SLC26A5):c.-53-2A>G	SLC26A5	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 61 +2 more	GBenign/Likely benign