Related gene-specific medical variations for Gene (Select 5172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362830	NM_000441.2(SLC26A4):c.2161A>G (p.Thr721Ala)	LOC123956210, SLC26A4 (T721A)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 3362440	NM_000441.2(SLC26A4):c.1340_1341insTCT (p.Lys447delinsAsnLeu)	SLC26A4	Insertion (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3362019	NM_000441.2(SLC26A4):c.1184C>G (p.Ser395Ter)	SLC26A4 (S395*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338145	NM_000441.2(SLC26A4):c.1002-1867T>C	SLC26A4	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338144	NM_000441.2(SLC26A4):c.1149+339T>G	SLC26A4	Single nucleotide variant (intron variant)	Hearing impairment	GLikely benign
Select item 3337947	NM_000441.2:c.305-3467_766-972del	SLC26A4	Deletion	not provided	GLikely pathogenic
Select item 3319312	NM_000441.2(SLC26A4):c.2141G>C (p.Arg714Thr)	LOC123956210, SLC26A4 (R714T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245852	NC_000007.13:g.(?_107300698)_(107303849_?)del	SLC26A4	Deletion	not provided	GPathogenic
Select item 3245851	NC_000007.13:g.(?_107312563)_(107315574_?)dup	SLC26A4	Duplication	not provided	GLikely pathogenic
Select item 3245850	NC_000007.13:g.(?_107301301)_(107303900_?)del	SLC26A4	Deletion	not provided	GPathogenic
Select item 3245849	NC_000007.13:g.(?_107350479)_(107355891_?)del	SLC26A4	Deletion	not provided	GPathogenic
Select item 3245848	NC_000007.13:g.(?_107336358)_(107350664_?)del	SLC26A4	Deletion	not provided	GPathogenic
Select item 3245847	NC_000007.13:g.(?_107334828)_(107344850_?)del	SLC26A4	Deletion	not provided	GPathogenic
Select item 3245846	NC_000007.13:g.(?_107312563)_(107312713_?)del	SLC26A4	Deletion	not provided	GPathogenic
Select item 3245845	NC_000007.13:g.(?_107344756)_(107344850_?)del	SLC26A4	Deletion	not provided	GPathogenic
Select item 3240508	NM_000441.2(SLC26A4):c.164+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3240507	NM_000441.2(SLC26A4):c.601-2A>T	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3240506	NM_000441.2(SLC26A4):c.927dup (p.Ala310fs)	SLC26A4 (A310fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3240505	NM_000441.2(SLC26A4):c.735_739delinsTGTTTCA (p.Lys245fs)	SLC26A4 (K245fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3240504	NM_000441.2(SLC26A4):c.1553G>A (p.Trp518Ter)	SLC26A4 (W518*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 3240502	NM_000441.2(SLC26A4):c.679G>C (p.Ala227Pro)	SLC26A4 (A227P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 3240501	NM_000441.2(SLC26A4):c.1264G>A (p.Val422Ile)	SLC26A4 (V422I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3240500	NM_000441.2(SLC26A4):c.1097_1098del (p.Ser366fs)	SLC26A4 (S366fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3240499	NM_000441.2(SLC26A4):c.508_509del (p.Val170fs)	SLC26A4 (V170fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3240498	NM_000441.2(SLC26A4):c.1544+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3064784	NM_000441.2(SLC26A4):c.164G>C (p.Ser55Thr)	SLC26A4 (S55T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 3047586	NC_000007.14:g.107289789C>T	COG5, SLC26A4	Single nucleotide variant (intron variant)	SLC26A4-related disorder	GLikely benign
Select item 3012812	NM_000441.2(SLC26A4):c.66G>A (p.Val22=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3008683	NM_000441.2(SLC26A4):c.305-8G>C	LOC129389839, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990584	NM_000441.2(SLC26A4):c.305-19A>G	LOC129389839, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972797	NM_000441.2(SLC26A4):c.9G>A (p.Ala3=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2963716	NM_000441.2(SLC26A4):c.2124C>T (p.Phe708=)	LOC123956210, SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956381	NM_000441.2(SLC26A4):c.305-12A>G	LOC129389839, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911940	NM_000441.2(SLC26A4):c.15C>T (p.Gly5=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2896534	NM_000441.2(SLC26A4):c.132G>A (p.Lys44=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2887326	NM_000441.2(SLC26A4):c.135G>A (p.Thr45=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2880325	NM_000441.2(SLC26A4):c.43G>T (p.Glu15Ter)	SLC26A4-AS1, SLC26A4 (E15*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2866963	NM_000441.2(SLC26A4):c.27G>A (p.Glu9=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2849669	NM_000441.2(SLC26A4):c.153C>G (p.Ala51=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2832256	NM_000441.2(SLC26A4):c.42C>G (p.Pro14=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2805256	NM_000441.2(SLC26A4):c.9G>T (p.Ala3=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2801636	NM_000441.2(SLC26A4):c.2090-15G>A	LOC123956210, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786599	NM_000441.2(SLC26A4):c.144G>A (p.Glu48=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2772890	NM_000441.2(SLC26A4):c.2090-4G>A	LOC123956210, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761333	NM_000441.2(SLC26A4):c.2090-11T>C	LOC123956210, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747670	NM_000441.2(SLC26A4):c.99G>A (p.Gln33=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2741974	NM_000441.2(SLC26A4):c.305-19A>C	LOC129389839, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735074	NM_000441.2(SLC26A4):c.2182dup (p.Tyr728fs)	LOC123956210, SLC26A4 (Y728fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2720205	NM_000441.2(SLC26A4):c.156G>A (p.Lys52=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2719751	NM_000441.2(SLC26A4):c.2148C>T (p.Asp716=)	LOC123956210, SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708893	NM_000441.2(SLC26A4):c.2090-4G>T	LOC123956210, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704685	NM_000441.2(SLC26A4):c.2115A>G (p.Gln705=)	LOC123956210, SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696211	NM_000441.2(SLC26A4):c.145_146dup (p.Ser49fs)	SLC26A4, SLC26A4-AS1 (S49fs)	Microsatellite (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2682260	NM_000441.2(SLC26A4):c.2090A>G (p.Asp697Gly)	LOC123956210, SLC26A4 (D697G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2678943	NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)	SLC26A4 (G544fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678942	NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)	SLC26A4 (I539V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678941	NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)	SLC26A4 (D573Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678940	NM_000441.2(SLC26A4):c.414del (p.Gly139fs)	SLC26A4 (G139fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678939	NM_000441.2(SLC26A4):c.2034+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678938	NM_000441.2(SLC26A4):c.1614+1del	SLC26A4	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678937	NM_000441.2(SLC26A4):c.1002-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678934	NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)	SLC26A4 (S391N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678933	NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer)	SLC26A4	Deletion (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678932	NM_000441.2(SLC26A4):c.2035-2A>C	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678931	NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)	SLC26A4 (S517fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678930	NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)	SLC26A4 (A406fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678929	NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)	SLC26A4 (Q750*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678926	NM_000441.2(SLC26A4):c.1615-1G>T	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678925	NM_000441.2(SLC26A4):c.164+2T>G	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678924	NM_000441.2(SLC26A4):c.2089+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678922	NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)	SLC26A4 (R409L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678921	NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)	SLC26A4 (F683fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678920	NM_000441.2(SLC26A4):c.338del (p.Val113fs)	SLC26A4 (V113fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678919	NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)	SLC26A4 (F484fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678917	NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)	SLC26A4 (Q739fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678916	NM_000441.2(SLC26A4):c.1707+4_1707+7del	SLC26A4	Microsatellite (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678914	NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)	SLC26A4 (Q421*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678911	NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)	SLC26A4 (P342fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678908	NM_000441.2(SLC26A4):c.2035-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678903	NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)	SLC26A4 (N558fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678900	NM_000441.2(SLC26A4):c.1377del (p.Met461fs)	SLC26A4 (M461fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678899	NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)	SLC26A4 (E635fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2637453	NM_000441.2(SLC26A4):c.2091T>G (p.Asp697Glu)	LOC123956210, SLC26A4 (D697E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576933	NM_000441.2(SLC26A4):c.25G>A (p.Glu9Lys)	SLC26A4, SLC26A4-AS1 (E9K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2438241	NM_000441.2(SLC26A4):c.1668T>G (p.Tyr556Ter)	SLC26A4 (Y556*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2436006	NM_000441.2(SLC26A4):c.2098A>G (p.Ile700Val)	LOC123956210, SLC26A4 (I700V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433446	NM_000441.2(SLC26A4):c.919-2A>C	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2429150	NM_000441.2(SLC26A4):c.2171A>T (p.Asp724Val)	LOC123956210, SLC26A4 (D724V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277403	NM_000441.2(SLC26A4):c.128G>T (p.Arg43Leu)	SLC26A4, SLC26A4-AS1 (R43L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275353	NM_000441.2(SLC26A4):c.2150C>T (p.Thr717Ile)	LOC123956210, SLC26A4 (T717I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2221861	NM_000441.2(SLC26A4):c.104A>T (p.Gln35Leu)	SLC26A4, SLC26A4-AS1 (Q35L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2148890	NM_000441.2(SLC26A4):c.74C>G (p.Pro25Arg)	SLC26A4, SLC26A4-AS1 (P25R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2136582	NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)	SLC26A4, SLC26A4-AS1 (M1R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 2115204	NM_000441.2(SLC26A4):c.93T>C (p.Ala31=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2112694	NM_000441.2(SLC26A4):c.36G>A (p.Gln12=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2108432	NM_000441.2(SLC26A4):c.305-8G>T	LOC129389839, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073100	NM_000441.2(SLC26A4):c.76dup (p.Val26fs)	SLC26A4, SLC26A4-AS1 (V26fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2036332	NM_000441.2(SLC26A4):c.99_100del (p.Gln34fs)	SLC26A4, SLC26A4-AS1 (Q34fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2033064	NM_000441.2(SLC26A4):c.148C>T (p.Leu50=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2025703	NM_000441.2(SLC26A4):c.24G>A (p.Ser8=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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