C3538946[trait identifier] AND "Precision Medicine Center, Zhengzhou U - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065202	NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp)	SLC26A4, SLC26A4-AS1 (E29D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1297066	NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)	SLC26A4 (S93R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 3233361	NM_000441.2(SLC26A4):c.304+941C>T	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1065204	NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp)	SLC26A4 (A106D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1065207	NM_000441.2(SLC26A4):c.387del (p.Phe130fs)	SLC26A4 (F130fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 1065211	NM_000441.2(SLC26A4):c.415+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 691508	NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)	SLC26A4 (M147V)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 43564	NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)	SLC26A4 (V233L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 1065210	NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)	SLC26A4 (S252P)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 2678936	NM_000441.2(SLC26A4):c.1149+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic/Likely pathogenic
Select item 1065209	NM_000441.2(SLC26A4):c.1264-12T>A	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3233360	NM_000441.2(SLC26A4):c.1264-6T>G	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1065213	NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs)	SLC26A4 (A434fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2735069	NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)	SLC26A4 (G439R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GLikely pathogenic
Select item 1065205	NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg)	SLC26A4 (S552R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1065203	NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter)	SLC26A4 (Q596*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1065212	NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)	SLC26A4 (A664V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065208	NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser)	SLC26A4 (F667S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238647	NM_000441.2(SLC26A4):c.2089+3A>T	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1065206	NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys)	LOC123956210, SLC26A4 (T721K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 949741	NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)	LOC123956210, SLC26A4 (H723D)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic

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Items: 21