C3538946[trait identifier] AND "Deafness Molecular Diagnostic Center, - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185667	NM_000441.2(SLC26A4):c.3G>A (p.Met1Ile)	SLC26A4, SLC26A4-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185668	NM_000441.2(SLC26A4):c.79T>C (p.Tyr27His)	SLC26A4, SLC26A4-AS1 (Y27H)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297066	NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)	SLC26A4 (S93R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1185669	NM_000441.2(SLC26A4):c.305-1G>A	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185670	NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr)	SLC26A4 (R134T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1297067	NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu)	SLC26A4 (F141L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185671	NM_000441.2(SLC26A4):c.600+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297063	NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val)	SLC26A4 (G205V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 1297068	NM_000441.2(SLC26A4):c.624_632delinsACTTGGC (p.Gly209fs)	SLC26A4 (G209fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185672	NM_000441.2(SLC26A4):c.667_669dup (p.Phe223dup)	SLC26A4	Duplication (inframe_insertion)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185673	NM_000441.2(SLC26A4):c.698_701del (p.Val233fs)	SLC26A4 (V233fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297069	NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly)	SLC26A4 (D271G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185674	NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=)	SLC26A4	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1185675	NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro)	SLC26A4 (L442P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1297064	NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln)	SLC26A4 (E443Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185690	NM_000441.2(SLC26A4):c.1342-1_1342insCTG	SLC26A4	Insertion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297070	NM_000441.2(SLC26A4):c.1369A>G (p.Asn457Asp)	SLC26A4 (N457D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185691	NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly)	SLC26A4 (W518G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1297065	NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg)	SLC26A4 (S532R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1185692	NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser)	SLC26A4 (P553S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1297072	NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu)	SLC26A4 (F572L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185693	NM_000441.2(SLC26A4):c.1803+1G>C	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185694	NM_000441.2(SLC26A4):c.1828del (p.Ser610fs)	SLC26A4 (S610fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297073	NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr)	SLC26A4 (C662Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
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 1185695	NM_000441.2(SLC26A4):c.2039del (p.Val680fs)	SLC26A4 (V680fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297074	NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val)	LOC123956210, SLC26A4 (L703V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27