2138[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 560

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	LOC130000438, LOC130000439 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	LOC130000640, LOC130000641 +245 more	Copy number gain	See cases	GPathogenic
Select item 57153	GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1	C8orf34, EYA1 +53 more	Copy number loss	See cases	GPathogenic
Select item 149198	GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 145425	GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 145997	GRCh38/hg38 8q13.3(chr8:71186873-71428549)x1	EYA1, LOC130000578 +4 more	Copy number loss	See cases	GPathogenic
Select item 228344	NM_172058.2(EYA1):c.(?_1598-56)_(*1968_?)del	EYA1	Deletion	Rare genetic deafness	GPathogenic
Select item 369614	NM_000503.5(EYA1):c.*1914T>G	EYA1	Single nucleotide variant	Otofaciocervical syndrome 1 +1 more	GLikely benign
Select item 363621	NM_000503.6(EYA1):c.*1890A>G	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 363622	NM_000503.6(EYA1):c.*1672T>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363623	NM_000503.6(EYA1):c.*1598A>C	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363624	NM_000503.6(EYA1):c.*1581G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 363625	NM_000503.6(EYA1):c.*1561ATCA[3]	EYA1	Microsatellite (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GLikely benign
Select item 908507	NM_000503.6(EYA1):c.*1561A>G	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 908508	NM_000503.6(EYA1):c.*1543T>G	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 908509	NM_000503.6(EYA1):c.*1529C>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 908510	NM_000503.6(EYA1):c.*1391G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363626	NM_000503.6(EYA1):c.1372_1375dup	EYA1	Duplication (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GUncertain significance
Select item 363627	NM_000503.6(EYA1):c.*1324T>C	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 363628	NM_000503.6(EYA1):c.*1310G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 909358	NM_000503.6(EYA1):c.*1297A>G	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 909359	NM_000503.6(EYA1):c.*1284C>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363629	NM_000503.6(EYA1):c.*1275G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363630	NM_000503.6(EYA1):c.*1263C>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 910322	NM_000503.6(EYA1):c.*1229G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363632	NM_000503.6(EYA1):c.*1222A>C	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 363631	NM_000503.6(EYA1):c.*1217TTA[1]	EYA1	Microsatellite (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GLikely benign
Select item 363633	NM_000503.6(EYA1):c.1135_1138dup	EYA1	Duplication (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GUncertain significance
Select item 910323	NM_000503.6(EYA1):c.*1126T>C	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363634	NM_000503.6(EYA1):c.*901dup	EYA1	Duplication (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GUncertain significance
Select item 911535	NM_000503.6(EYA1):c.*866C>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363635	NM_000503.6(EYA1):c.*848G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363636	NM_000503.6(EYA1):c.*800T>C	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 363637	NM_000503.6(EYA1):c.*784T>C	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 363638	NM_000503.6(EYA1):c.770_773dup	EYA1	Duplication (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GUncertain significance
Select item 908580	NM_000503.6(EYA1):c.*755A>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363639	NM_000503.6(EYA1):c.*705G>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 908581	NM_000503.6(EYA1):c.*556A>G	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 363640	NM_000503.6(EYA1):c.*545C>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363641	NM_000503.6(EYA1):c.509_512del	EYA1	Deletion (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GBenign
Select item 909438	NM_000503.6(EYA1):c.*451C>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363642	NM_000503.6(EYA1):c.*442G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 909439	NM_000503.6(EYA1):c.*429T>C	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 363643	NM_000503.6(EYA1):c.*353C>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 363644	NM_000503.6(EYA1):c.*117G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +2 more	GUncertain significance
Select item 910385	NM_000503.6(EYA1):c.*104C>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
Select item 910386	NM_000503.6(EYA1):c.*102T>G	EYA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 363645	NM_000503.6(EYA1):c.*86C>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 163426	NM_172058.2(EYA1):c.(?_-66)_(*76_?)del	EYA1, LOC130000578 +4 more	Deletion	Rare genetic deafness	GPathogenic
Select item 911601	NM_000503.6(EYA1):c.*70G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363646	NM_000503.6(EYA1):c.*23G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +2 more	GBenign/Likely benign
Select item 584228	NC_000008.11:g.(?_71199320)_(71356506_?)del	EYA1, LOC130000578 +4 more	Deletion	Melnick-Fraser syndrome +1 more	GPathogenic
Select item 1235030	NM_000503.6(EYA1):c.*9G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 2717003	NM_000503.6(EYA1):c.1771dup (p.Tyr591fs)	EYA1 (Y591fs +5 more)	Duplication (frameshift variant)	Melnick-Fraser syndrome	GPathogenic
Select item 2633645	NM_000503.6(EYA1):c.1771T>A (p.Tyr591Asn)	EYA1 (Y469N +5 more)	Single nucleotide variant (missense variant)	EYA1-related disorder	GUncertain significance
Select item 48107	NM_000503.6(EYA1):c.1755T>C (p.His585=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign
Select item 2697788	NM_000503.6(EYA1):c.1743_1752dup (p.His585fs)	EYA1 (H552fs +5 more)	Duplication (frameshift variant)	Melnick-Fraser syndrome	GPathogenic
Select item 48106	NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)	EYA1 (L583P +4 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GLikely pathogenic
Select item 644606	NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)	EYA1 (L458R +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 504571	NM_000503.6(EYA1):c.1734G>A (p.Ser578=)	EYA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3066129	NM_000503.6(EYA1):c.1719G>T (p.Arg573Ser)	EYA1 (R451S +5 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1	GUncertain significance
Select item 1465771	NM_000503.6(EYA1):c.1717A>G (p.Arg573Gly)	EYA1 (R566G +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 422377	NM_000503.6(EYA1):c.1714dup (p.Trp572fs)	EYA1 (W572fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2724964	NM_000503.6(EYA1):c.1704G>A (p.Ala568=)	EYA1	Single nucleotide variant (synonymous variant)	EYA1-related disorder +1 more	GLikely benign
Select item 2812024	NM_000503.6(EYA1):c.1701del (p.His567fs)	EYA1 (H567fs +5 more)	Deletion (frameshift variant)	Melnick-Fraser syndrome	GPathogenic
Select item 908645	NM_000503.6(EYA1):c.1701C>A (p.His567Gln)	EYA1 (H560Q +4 more)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 1 +1 more	GLikely benign
Select item 363647	NM_000503.6(EYA1):c.1701C>T (p.His567=)	EYA1	Single nucleotide variant (synonymous variant)	Otofaciocervical syndrome 1 +1 more	GBenign
Select item 48105	NM_000503.6(EYA1):c.1699-3C>T	EYA1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 194813	NM_000503.6(EYA1):c.1699-8T>C	EYA1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1263353	NM_000503.6(EYA1):c.1699-23A>G	EYA1	Single nucleotide variant (intron variant)	Branchiootorenal syndrome 1 +3 more	GBenign
Select item 1248604	NM_000503.6(EYA1):c.1699-55G>A	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174273	NM_000503.6(EYA1):c.1699-84C>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444665	NM_000503.6(EYA1):c.1699-119_1699-116dup	EYA1	Duplication (intron variant)	not provided	GLikely benign
Select item 1267965	NM_000503.6(EYA1):c.1698+344C>T	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243861	NM_000503.6(EYA1):c.1698+133A>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 908646	NM_000503.6(EYA1):c.1698+14G>A	EYA1	Single nucleotide variant (intron variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 2498127	NM_000503.6(EYA1):c.1698+2T>C	EYA1	Single nucleotide variant (splice donor variant)	Otofaciocervical syndrome 1	GLikely pathogenic
Select item 1069048	NM_000503.6(EYA1):c.1698+1G>T	EYA1	Single nucleotide variant (splice donor variant)	Melnick-Fraser syndrome +1 more	GPathogenic
Select item 48104	NM_000503.6(EYA1):c.1697_1698insT (p.Lys566fs)	EYA1 (K444fs +4 more)	Insertion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 7934	NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs)	EYA1 (K558fs +4 more)	Deletion (frameshift variant)	Branchiootorenal syndrome 1	GPathogenic
Select item 2575540	NM_000503.6(EYA1):c.1697A>G (p.Lys566Arg)	EYA1 (K444R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 459253	NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter)	EYA1 (Q562* +4 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome	GPathogenic
Select item 2528467	NM_000503.6(EYA1):c.1670G>T (p.Gly557Val)	EYA1 (G524V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524040	NM_000503.6(EYA1):c.1670G>C (p.Gly557Ala)	EYA1 (G551A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321567	NM_000503.6(EYA1):c.1659T>C (p.Val553=)	EYA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 581954	NM_000503.6(EYA1):c.1654GTT[1] (p.Val553del)	EYA1 (V553del +4 more)	Microsatellite (inframe_deletion)	Melnick-Fraser syndrome	GUncertain significance
Select item 1691281	NM_000503.6(EYA1):c.1650_1651dup (p.Tyr551fs)	EYA1 (Y429fs +4 more)	Microsatellite (frameshift variant)	Branchiootic syndrome 1	GLikely pathogenic
Select item 730086	NM_000503.6(EYA1):c.1650G>A (p.Val550=)	EYA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1069049	NM_000503.6(EYA1):c.1644del (p.Val549fs)	EYA1 (V427fs +4 more)	Deletion (frameshift variant)	Melnick-Fraser syndrome	GPathogenic

<< First< Prev

Page of 6