ClinVar (all) for Orgtrack (Select 506885) - ClinVar

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

Links from Orgtrack

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804310	NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys)	SLC12A2 (E979K)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal dominant 78 +1 more	GPathogenic; association
Select item 804309	NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr)	SLC12A2 (P988T)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal dominant 78 +1 more	GPathogenic; association
Select item 804308	NM_001046.3(SLC12A2):c.2930-2A>G	SLC12A2	Single nucleotide variant (splice acceptor variant +1 more)	Hearing loss, autosomal dominant 78 +1 more	GPathogenic; association
Select item 804307	NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr)	SLC12A2 (D981Y)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal dominant 78 +1 more	GPathogenic; association
Select item 691518	NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro)	LOC123956210, SLC26A4 (L703P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 691517	NM_000441.2(SLC26A4):c.1997C>T (p.Ser666Phe)	SLC26A4 (S666F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GAffects
Select item 691516	NM_000441.2(SLC26A4):c.1970G>A (p.Ser657Asn)	SLC26A4 (S657N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GAffects
Select item 691515	NM_000441.2(SLC26A4):c.1448T>A (p.Val483Glu)	SLC26A4 (V483E)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 691514	NM_000441.2(SLC26A4):c.1277T>A (p.Ile426Asn)	SLC26A4 (I426N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691513	NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu)	SLC26A4 (Q421L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 691512	NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys)	SLC26A4 (T410K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GLikely pathogenic
Select item 691511	NM_000441.2(SLC26A4):c.1223C>T (p.Ser408Phe)	SLC26A4 (S408F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 691510	NM_000441.2(SLC26A4):c.919A>G (p.Thr307Ala)	SLC26A4 (T307A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	Gother
Select item 691509	NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys)	SLC26A4 (Y214C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	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 691507	NM_000441.2(SLC26A4):c.392G>T (p.Gly131Val)	SLC26A4 (G131V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GAffects
Select item 691506	NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)	SLC26A4 (P123S)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 556671	NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)	SLC26A4 (V186F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 556648	NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)	SLC26A4 (M147T)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556091	NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)	SLC26A4 (G139A)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GConflicting classifications of pathogenicity
Select item 554065	NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro)	SLC26A4 (S399P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 550964	NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His)	SLC26A4 (R470H)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GUncertain significance
Select item 550607	NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile)	SLC26A4 (V163I)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 550172	NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)	SLC26A4 (N457K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 446462	NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu)	SLC26A4 (F692L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 446461	NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	SLC26A4 (D669E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic/Likely pathogenic
Select item 446459	NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly)	SLC26A4, SLC26A4-AS1 (S28G)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 446457	NM_000441.2(SLC26A4):c.1707+5G>A	SLC26A4	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 446456	NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	SLC26A4 (Y556C)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 446455	NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)	SLC26A4 (S551fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 446454	NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	SLC26A4 (T527P)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446453	NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	SLC26A4 (N392Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 446452	NM_000441.2(SLC26A4):c.601-1G>A	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 446451	NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)	SLC26A4 (P76S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 440275	NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)	SLC26A4 (D266N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GConflicting classifications of pathogenicity
Select item 417623	NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg)	SLC26A4 (T99R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic; Affects
Select item 402277	NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	SLC26A4 (F683S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 227949	NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	SLC26A4, SLC26A4-AS1 (S49R)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome	GLikely benign FDA Recognized database
Select item 189160	NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	SLC26A4 (I529S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 189039	NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	SLC26A4 (G334V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 188889	NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	SLC26A4 (V659L)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 188842	NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	SLC26A4 (S90L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43574	NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)	SLC26A4 (N324Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GBenign/Likely benign
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 43555	NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	SLC26A4 (L117F)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 43519	NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	SLC26A4 (C565Y)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43510	NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	SLC26A4 (G497S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GConflicting classifications of pathogenicity
Select item 43498	NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	SLC26A4 (T410M)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	Pendred syndrome +5 more	GPathogenic/Likely pathogenic
Select item 43492	NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)	SLC26A4 (F354S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 43186	NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	MYO7A (R853H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 4840	NM_000441.2(SLC26A4):c.919-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 4834	NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)	SLC26A4 (S133T)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 4830	NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	SLC26A4 (T193I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
Select item 4829	NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	SLC26A4 (L445W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 4826	NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	LOC123956210, SLC26A4 (T721M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic
Select item 4825	NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	LOC123956210, SLC26A4 (H723R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 4823	NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)	SLC26A4 (A372V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 4822	NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu)	SLC26A4 (K369E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic; Affects
Select item 4818	NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	SLC26A4 (T416P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 60