ClinVar for Gene (Select 5172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369705	NM_000441.2(SLC26A4):c.493A>G (p.Ser165Gly)	SLC26A4 (S165G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366771	NM_000441.2(SLC26A4):c.2324T>C (p.Met775Thr)	SLC26A4 (M775T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366076	NM_000441.2(SLC26A4):c.1216_1218delinsCCC (p.Ala406Pro)	SLC26A4 (A406P)	Indel (missense variant)	not provided	GUncertain significance
Select item 3363985	NM_000441.2(SLC26A4):c.407T>C (p.Ile136Thr)	SLC26A4 (I136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3343610	NM_000441.2(SLC26A4):c.296C>A (p.Thr99Lys)	SLC26A4 (T99K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339477	NM_000441.2(SLC26A4):c.1241A>G (p.Glu414Gly)	SLC26A4 (E414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339208	NM_000441.2(SLC26A4):c.1003T>A (p.Phe335Ile)	SLC26A4 (F335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339201	NM_000441.2(SLC26A4):c.279T>G (p.Ser93Arg)	SLC26A4 (S93R)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
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 3336559	NM_000441.2(SLC26A4):c.241A>G (p.Lys81Glu)	SLC26A4 (K81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336483	NM_000441.2(SLC26A4):c.162C>T (p.Cys54=)	SLC26A4	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3336121	NM_000441.2(SLC26A4):c.1596T>A (p.Ser532Arg)	SLC26A4 (S532R)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 3336106	NM_000441.2(SLC26A4):c.1244G>A (p.Ser415Asn)	SLC26A4 (S415N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319313	NM_000441.2(SLC26A4):c.1046T>C (p.Met349Thr)	SLC26A4 (M349T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3319311	NM_000441.2(SLC26A4):c.647C>T (p.Ala216Val)	SLC26A4 (A216V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251629	NM_000441.2(SLC26A4):c.1594A>G (p.Ser532Gly)	SLC26A4 (S532G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251445	NM_000441.2(SLC26A4):c.314A>G (p.Tyr105Cys)	SLC26A4 (Y105C)	Single nucleotide variant (missense variant)	not specified	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 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 3245787	NC_000007.13:g.(?_107167662)_(107303900_?)del	BCAP29, COG5 +2 more	Deletion	COG5-congenital disorder of glycosylation	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 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 3233966	NM_000441.2(SLC26A4):c.419C>T (p.Pro140Leu)	SLC26A4 (P140L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3233617	NM_000441.2(SLC26A4):c.1650T>G (p.Phe550Leu)	SLC26A4 (F550L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233466	NM_000441.2(SLC26A4):c.1244G>T (p.Ser415Ile)	SLC26A4 (S415I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3163859	NM_000441.2(SLC26A4):c.547A>G (p.Thr183Ala)	SLC26A4 (T183A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3163858	NM_000441.2(SLC26A4):c.539C>A (p.Ala180Asp)	SLC26A4 (A180D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163856	NM_000441.2(SLC26A4):c.1372C>A (p.Leu458Met)	SLC26A4 (L458M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075851	NM_000441.2(SLC26A4):c.1149+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Rare genetic deafness	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 3063653	NC_000007.13:g.(107303881_107312582)_(107315555_107323646)del	SLC26A4	Deletion	Pendred syndrome	GPathogenic
Select item 3047586	NC_000007.14:g.107289789C>T	COG5, SLC26A4	Single nucleotide variant (intron variant)	SLC26A4-related disorder	GLikely benign
Select item 3031951	NM_000441.2(SLC26A4):c.1579A>G (p.Thr527Ala)	SLC26A4 (T527A)	Single nucleotide variant (missense variant)	SLC26A4-related disorder	GUncertain significance
Select item 3023070	NM_000441.2(SLC26A4):c.1707+7A>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022148	NM_000441.2(SLC26A4):c.1544+15A>G	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018024	NM_000441.2(SLC26A4):c.1804-6G>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017708	NM_000441.2(SLC26A4):c.1002-17A>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017302	NM_000441.2(SLC26A4):c.556_562del (p.Val186fs)	SLC26A4 (V186fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3014222	NM_000441.2(SLC26A4):c.1390C>T (p.Gln464Ter)	SLC26A4 (Q464*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3012169	NM_000441.2(SLC26A4):c.1264-7C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011001	NM_000441.2(SLC26A4):c.2235+12A>G	SLC26A4	Single nucleotide variant (intron variant)	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 3007009	NM_000441.2(SLC26A4):c.2319+13T>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006525	NM_000441.2(SLC26A4):c.2035-9del	SLC26A4	Deletion (intron variant)	not provided	GBenign
Select item 3005723	NM_000441.2(SLC26A4):c.1896G>A (p.Lys632=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002224	NM_000441.2(SLC26A4):c.767C>A (p.Thr256Lys)	SLC26A4 (T256K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996987	NM_000441.2(SLC26A4):c.1615-18A>G	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995936	NM_000441.2(SLC26A4):c.164+14G>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992801	NM_000441.2(SLC26A4):c.1341+12C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991556	NM_000441.2(SLC26A4):c.466G>C (p.Ala156Pro)	SLC26A4 (A156P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2990584	NM_000441.2(SLC26A4):c.305-19A>G	LOC129389839, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988283	NM_000441.2(SLC26A4):c.1159G>T (p.Ala387Ser)	SLC26A4 (A387S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2988253	NM_000441.2(SLC26A4):c.1444T>C (p.Trp482Arg)	SLC26A4 (W482R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2985271	NM_000441.2(SLC26A4):c.888C>A (p.Ile296=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982286	NM_000441.2(SLC26A4):c.1803+13C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980702	NM_000441.2(SLC26A4):c.1034T>A (p.Leu345Ter)	SLC26A4 (L345*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2979058	NM_000441.2(SLC26A4):c.2035-20C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975853	NM_000441.2(SLC26A4):c.2320-12T>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975197	NM_000441.2(SLC26A4):c.2235+14C>A	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974412	NM_000441.2(SLC26A4):c.2236-12C>T	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 2970868	NM_000441.2(SLC26A4):c.2337A>G (p.Ala779=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970193	NM_000441.2(SLC26A4):c.416-14C>A	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970147	NM_000441.2(SLC26A4):c.1804-17G>A	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969454	NM_000441.2(SLC26A4):c.164+10G>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966184	NM_000441.2(SLC26A4):c.2236-18T>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965433	NM_000441.2(SLC26A4):c.1545-16A>G	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963928	NM_000441.2(SLC26A4):c.2089+15C>T	SLC26A4	Single nucleotide variant (intron variant)	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 2960401	NM_000441.2(SLC26A4):c.1707+12A>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957157	NM_000441.2(SLC26A4):c.2035-11T>C	SLC26A4	Single nucleotide variant (intron 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 2920482	NM_000441.2(SLC26A4):c.919-14_919-13del	SLC26A4	Deletion (intron variant)	not provided	GLikely benign
Select item 2918786	NM_000441.2(SLC26A4):c.1264-17A>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918452	NM_000441.2(SLC26A4):c.164+20G>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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