FOXI1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 173

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 1320578	NC_000005.10:g.170105583dup	FOXI1	Duplication	not provided	GLikely benign
Select item 1228790	NC_000005.10:g.170105629A>C	FOXI1	Single nucleotide variant	not provided	GBenign
Select item 1296850	NC_000005.10:g.170105647G>A	FOXI1	Single nucleotide variant	not provided	GBenign
Select item 352700	NM_012188.5(FOXI1):c.-18G>A	FOXI1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 3096400	NM_012188.5(FOXI1):c.8C>T (p.Ser3Phe)	FOXI1 (S3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2170436	NM_012188.5(FOXI1):c.9C>A (p.Ser3=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100023	NM_012188.5(FOXI1):c.11T>A (p.Phe4Tyr)	FOXI1 (F4Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 352701	NM_012188.5(FOXI1):c.30C>T (p.Ser10=)	FOXI1	Single nucleotide variant (synonymous variant)	FOXI1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2374804	NM_012188.5(FOXI1):c.43A>C (p.Ser15Arg)	FOXI1 (S15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 904623	NM_012188.5(FOXI1):c.63C>T (p.Ile21=)	FOXI1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 1911901	NM_012188.5(FOXI1):c.72G>T (p.Glu24Asp)	FOXI1 (E24D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164235	NM_012188.5(FOXI1):c.77C>A (p.Pro26His)	FOXI1 (P26H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1365912	NM_012188.5(FOXI1):c.77C>G (p.Pro26Arg)	FOXI1 (P26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420797	NM_012188.5(FOXI1):c.78C>T (p.Pro26=)	FOXI1	Single nucleotide variant (synonymous variant)	FOXI1-related disorder +1 more	GLikely benign
Select item 2441543	NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala)	FOXI1 (E27A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 1064953	NM_012188.5(FOXI1):c.92A>G (p.Tyr31Cys)	FOXI1 (Y31C)	Single nucleotide variant (missense variant)	Hearing impairment	GLikely pathogenic
Select item 776592	NM_012188.5(FOXI1):c.131C>T (p.Pro44Leu)	FOXI1 (P44L)	Single nucleotide variant (missense variant)	FOXI1-related disorder +1 more	GLikely benign
Select item 1619255	NM_012188.5(FOXI1):c.141C>G (p.Pro47=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464208	NM_012188.5(FOXI1):c.143C>T (p.Ser48Phe)	FOXI1 (S48F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901824	NM_012188.5(FOXI1):c.159C>T (p.Gly53=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 904624	NM_012188.5(FOXI1):c.161A>G (p.Glu54Gly)	FOXI1 (E54G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 2173582	NM_012188.5(FOXI1):c.177C>G (p.Pro59=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982273	NM_012188.5(FOXI1):c.200G>A (p.Gly67Glu)	FOXI1 (G67E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173055	NM_012188.5(FOXI1):c.201G>A (p.Gly67=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887014	NM_012188.5(FOXI1):c.202C>T (p.Pro68Ser)	FOXI1 (P68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956487	NM_012188.5(FOXI1):c.225C>T (p.Tyr75=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622161	NM_012188.5(FOXI1):c.231C>G (p.Pro77=)	FOXI1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GLikely benign
Select item 1396875	NM_012188.5(FOXI1):c.232G>A (p.Gly78Ser)	FOXI1 (G78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904167	NM_012188.5(FOXI1):c.234C>T (p.Gly78=)	FOXI1	Single nucleotide variant (synonymous variant)	FOXI1-related disorder +1 more	GLikely benign
Select item 2720097	NM_012188.5(FOXI1):c.240C>T (p.Asn80=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096394	NM_012188.5(FOXI1):c.245G>A (p.Ser82Asn)	FOXI1 (S82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2181136	NM_012188.5(FOXI1):c.248C>T (p.Pro83Leu)	FOXI1 (P83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3096395	NM_012188.5(FOXI1):c.269G>T (p.Gly90Val)	FOXI1 (G90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 904625	NM_012188.5(FOXI1):c.269G>A (p.Gly90Glu)	FOXI1 (G90E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 352702	NM_012188.5(FOXI1):c.279G>A (p.Arg93=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1064962	NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp)	FOXI1 (G103W)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 352703	NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala)	FOXI1 (G103A)	Single nucleotide variant (missense variant)	FOXI1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2903341	NM_012188.5(FOXI1):c.309G>C (p.Gly103=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 352704	NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu)	FOXI1 (D106E)	Single nucleotide variant (missense variant)	FOXI1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1495817	NM_012188.5(FOXI1):c.331C>T (p.Pro111Ser)	FOXI1 (P111S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252675	NM_012188.5(FOXI1):c.346G>A (p.Glu116Lys)	FOXI1 (E116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1666181	NM_012188.5(FOXI1):c.372A>G (p.Pro124=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015430	NM_012188.5(FOXI1):c.396C>T (p.Ile132=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2386498	NM_012188.5(FOXI1):c.421G>C (p.Asp141His)	FOXI1 (D141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096396	NM_012188.5(FOXI1):c.425A>G (p.Lys142Arg)	FOXI1 (K142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 290061	NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu)	FOXI1 (Q148E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 799118	NM_012188.5(FOXI1):c.462C>G (p.Ala154=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732607	NM_012188.5(FOXI1):c.468C>T (p.Asn156=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2318600	NM_012188.5(FOXI1):c.472C>A (p.Pro158Thr)	FOXI1 (P158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2022133	NM_012188.5(FOXI1):c.527C>T (p.Ser176Leu)	FOXI1 (S176L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753219	NM_012188.5(FOXI1):c.528G>C (p.Ser176=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737313	NM_012188.5(FOXI1):c.528G>A (p.Ser176=)	FOXI1	Single nucleotide variant (synonymous variant)	FOXI1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3096397	NM_012188.5(FOXI1):c.544A>C (p.Lys182Gln)	FOXI1 (K182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 905416	NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg)	FOXI1 (K182R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2119477	NM_012188.5(FOXI1):c.557G>A (p.Arg186His)	FOXI1 (R186H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052510	NM_012188.5(FOXI1):c.558C>A (p.Arg186=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1365888	NM_012188.5(FOXI1):c.562G>A (p.Glu188Lys)	FOXI1 (E188K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251929	NM_012188.5(FOXI1):c.565G>A (p.Asp189Asn)	FOXI1 (D189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 352705	NM_012188.5(FOXI1):c.568G>C (p.Asp190His)	FOXI1 (D190H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428371	NM_012188.5(FOXI1):c.573G>A (p.Pro191=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3003015	NM_012188.5(FOXI1):c.574+20G>A	FOXI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297806	NM_012188.5(FOXI1):c.574+71T>C	FOXI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317937	NM_012188.5(FOXI1):c.574+155G>T	FOXI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237049	NM_012188.5(FOXI1):c.574+254C>G	FOXI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282730	NM_012188.5(FOXI1):c.575-59G>A	FOXI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989426	NM_012188.5(FOXI1):c.575-19C>T	FOXI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049557	NM_012188.5(FOXI1):c.575-5A>G	FOXI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957958	NM_012188.5(FOXI1):c.621C>T (p.Phe207=)	FOXI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1378877	NM_012188.5(FOXI1):c.638G>A (p.Arg213His)	FOXI1 (R213H)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3096398	NM_012188.5(FOXI1):c.646A>G (p.Arg216Gly)	FOXI1 (R216G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2415875	NM_012188.5(FOXI1):c.671C>T (p.Ser224Phe)	FOXI1 (S224F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 497649	NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile)	FOXI1 (T226I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 3096399	NM_012188.5(FOXI1):c.683C>T (p.Ser228Phe)	FOXI1 (S228F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1482646	NM_012188.5(FOXI1):c.716C>T (p.Pro239Leu)	FOXI1 (P239L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1653289	NM_012188.5(FOXI1):c.717G>A (p.Pro239=)	FOXI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 195276	NM_012188.5(FOXI1):c.726C>T (p.Ser242=)	FOXI1	Single nucleotide variant (synonymous variant +1 more)	FOXI1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 905417	NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr)	FOXI1 (P243T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GConflicting classifications of pathogenicity
Select item 2252112	NM_012188.5(FOXI1):c.734C>A (p.Thr245Asn)	FOXI1 (T245N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1381247	NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr)	FOXI1 (A255T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 8449	NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)	FOXI1 (G258E)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome +2 more	GUncertain significance
Select item 2049223	NM_012188.5(FOXI1):c.776G>A (p.Gly259Asp)	FOXI1 (G259D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1999972	NM_012188.5(FOXI1):c.784A>G (p.Ser262Gly)	FOXI1 (S262G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2091235	NM_012188.5(FOXI1):c.793G>T (p.Glu265Ter)	FOXI1 (E265*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1509603	NM_012188.5(FOXI1):c.799C>T (p.Arg267Trp)	FOXI1 (R267W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 8450	NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)	FOXI1 (R267Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 2114561	NM_012188.5(FOXI1):c.802C>T (p.Pro268Ser)	FOXI1 (P268S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 352706	NM_012188.5(FOXI1):c.822C>T (p.Gly274=)	FOXI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GConflicting classifications of pathogenicity
Select item 1559287	NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr)	FOXI1 (A275T)	Single nucleotide variant (missense variant +1 more)	FOXI1-related disorder +3 more	GLikely benign
Select item 285399	NM_012188.5(FOXI1):c.825C>T (p.Ala275=)	FOXI1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1478911	NM_012188.5(FOXI1):c.845T>C (p.Leu282Pro)	FOXI1 (L282P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 352707	NM_012188.5(FOXI1):c.861C>G (p.Ala287=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2049031	NM_012188.5(FOXI1):c.870C>T (p.Ser290=)	FOXI1	Single nucleotide variant (synonymous variant)	FOXI1-related disorder +1 more	GLikely benign
Select item 502184	NM_012188.5(FOXI1):c.871G>A (p.Gly291Arg)	FOXI1 (G291R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2368111	NM_012188.5(FOXI1):c.884C>T (p.Thr295Met)	FOXI1 (T200M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2778783	NM_012188.5(FOXI1):c.885G>C (p.Thr295=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2