ClinVar for MedGen (Select 351307) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 150

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671884	NM_000503.6(EYA1):c.639+3A>C	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1	GLikely pathogenic
Select item 2664718	NM_000503.6(EYA1):c.1598-2del	EYA1	Deletion (splice acceptor variant)	Branchiootic syndrome 1	GPathogenic
Select item 2580901	NM_000503.6(EYA1):c.1408G>T (p.Glu470Ter)	EYA1 (E348* +5 more)	Single nucleotide variant (nonsense)	Branchiootic syndrome 1	GPathogenic
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 1590419	NM_000503.6(EYA1):c.1140+11A>T	EYA1	Single nucleotide variant (intron variant)	Branchiootorenal syndrome 1 +3 more	GLikely benign
Select item 1540144	NM_000503.6(EYA1):c.165G>A (p.Thr55=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	Branchiootic syndrome 1 +3 more	GLikely benign
Select item 1530594	NM_000503.6(EYA1):c.1530G>A (p.Ala510=)	EYA1	Single nucleotide variant (synonymous variant)	EYA1-related disorder +4 more	GLikely benign
Select item 1459746	NM_000503.6(EYA1):c.1487_1488del (p.Val496fs)	EYA1 (V374fs +4 more)	Microsatellite (frameshift variant)	Melnick-Fraser syndrome +3 more	GPathogenic
Select item 1446417	NM_000503.6(EYA1):c.910C>T (p.Arg304Cys)	EYA1 (R327C +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1400600	NM_000503.6(EYA1):c.289A>G (p.Ile97Val)	EYA1 (I96V +3 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +3 more	GUncertain significance
Select item 1389408	NM_000503.6(EYA1):c.273-3T>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +3 more	GUncertain significance
Select item 1297081	NM_000503.6(EYA1):c.639+2T>G	EYA1	Single nucleotide variant (splice donor variant)	Branchiootic syndrome 1	GPathogenic
Select item 1284938	NM_000503.6(EYA1):c.1597+18T>C	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +4 more	GBenign/Likely benign
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 1253275	NM_000503.6(EYA1):c.1476-21G>T	EYA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1229733	NM_000503.6(EYA1):c.639+39T>G	EYA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1229081	NM_000503.6(EYA1):c.639+17G>C	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +3 more	GBenign/Likely benign
Select item 1202645	NM_000503.6(EYA1):c.1140+1G>A	EYA1	Single nucleotide variant (intron variant +1 more)	Branchiootic syndrome 1	GPathogenic
Select item 1202644	NM_000503.6(EYA1):c.1425del (p.Asp476fs)	EYA1 (D354fs +4 more)	Deletion (frameshift variant)	Branchiootic syndrome 1	GPathogenic
Select item 1187931	NM_000503.6(EYA1):c.125-13T>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +4 more	GLikely benign
Select item 1069545	NM_000503.6(EYA1):c.637C>T (p.Gln213Ter)	EYA1 (Q207* +5 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome +1 more	GPathogenic/Likely pathogenic
Select item 930025	NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys)	EYA1 (Y306C +5 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1 +3 more	GUncertain significance
Select item 929999	NM_000503.6(EYA1):c.692A>G (p.Asn231Ser)	EYA1 (N260S +5 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1 +3 more	GUncertain significance
Select item 911724	NM_000503.6(EYA1):c.724A>G (p.Ser242Gly)	EYA1 (S120G +5 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1 +1 more	GBenign
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 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 910615	NM_000503.6(EYA1):c.-340G>C	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 910434	NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe)	EYA1 (Y432F +4 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1 +4 more	GUncertain significance
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 910385	NM_000503.6(EYA1):c.*104C>T	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
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 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 909629	NM_000503.6(EYA1):c.230G>A (p.Arg77Gln)	EYA1 (R106Q +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +2 more	GConflicting classifications of pathogenicity
Select item 909567	NM_000503.6(EYA1):c.827-8T>A	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +2 more	GUncertain significance
Select item 909566	NM_000503.6(EYA1):c.887G>A (p.Arg296His)	EYA1 (R174H +5 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1 +2 more	GBenign/Likely benign
Select item 909501	NM_000503.6(EYA1):c.1475+15G>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +2 more	GLikely benign
Select item 909500	NM_000503.6(EYA1):c.1509T>C (p.Thr503=)	EYA1	Single nucleotide variant (synonymous 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 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 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 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 908831	NM_000503.6(EYA1):c.-188C>T	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 908770	NM_000503.6(EYA1):c.378G>A (p.Thr126=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
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 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 908581	NM_000503.6(EYA1):c.*556A>G	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +1 more	GBenign
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 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 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 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 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 854287	NM_000503.6(EYA1):c.1050+1G>T	EYA1	Single nucleotide variant (splice donor variant)	Melnick-Fraser syndrome +1 more	GPathogenic
Select item 810294	NM_000503.6(EYA1):c.49A>G (p.Ser17Gly)	EYA1 (S17G +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +4 more	GConflicting classifications of pathogenicity
Select item 807413	NM_000503.6(EYA1):c.1361-1G>A	EYA1	Single nucleotide variant (splice acceptor variant)	Melnick-Fraser syndrome +1 more	GPathogenic/Likely pathogenic
Select item 772497	NM_000503.6(EYA1):c.399G>A (p.Pro133=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +3 more	GLikely benign
Select item 697785	NM_000503.6(EYA1):c.321T>C (p.Ala107=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	Melnick-Fraser syndrome +4 more	GBenign/Likely benign
Select item 689446	NM_000503.6(EYA1):c.415T>C (p.Tyr139His)	EYA1 (Y138H +4 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1	GUncertain significance
Select item 666609	NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)	SIX1 (Y129S)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 624333	NM_000503.6(EYA1):c.26C>T (p.Pro9Leu)	EYA1 (P9L +1 more)	Single nucleotide variant (missense variant +1 more)	Otofaciocervical syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 562334	NM_000503.6(EYA1):c.1597+1G>A	EYA1	Single nucleotide variant (splice donor variant)	Branchiootic syndrome 1 +2 more	GLikely pathogenic
Select item 560446	NM_000503.6(EYA1):c.1523C>T (p.Ala508Val)	EYA1 (A508V +4 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1 +2 more	GUncertain significance
Select item 501623	NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)	EYA1 (D289Y +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 459254	NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)	EYA1 (R77* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 452501	NM_000503.6(EYA1):c.235A>G (p.Thr79Ala)	EYA1 (T79A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 444758	NM_000503.6(EYA1):c.491T>C (p.Leu164Pro)	EYA1 (L164P +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +5 more	GUncertain significance
Select item 429912	NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	EYA1 (R297* +5 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome +5 more	GPathogenic
Select item 417930	NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)	EYA1 (E539* +4 more)	Single nucleotide variant (nonsense)	Branchiootic syndrome 1 +2 more	GLikely pathogenic
Select item 363678	NM_000503.6(EYA1):c.-454G>A	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363677	NM_000503.6(EYA1):c.-429G>A	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363676	NM_000503.6(EYA1):c.-340G>T	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Branchiootic syndrome 1 +2 more	GBenign
Select item 363675	NM_000503.6(EYA1):c.-326G>T	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363674	NM_000503.6(EYA1):c.-271G>A	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GBenign
Select item 363673	NM_000503.6(EYA1):c.-263C>T	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363672	NM_000503.6(EYA1):c.-242T>G	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363671	NM_000503.6(EYA1):c.-192G>A	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363670	NM_000503.6(EYA1):c.-191C>G	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GBenign
Select item 363669	NM_000503.6(EYA1):c.-173G>T	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363668	NM_000503.6(EYA1):c.-155G>A	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363667	NM_000503.6(EYA1):c.-75G>C	EYA1	Single nucleotide variant (intron variant +1 more)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363666	NM_000503.6(EYA1):c.-49A>G	EYA1	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363665	NM_000503.6(EYA1):c.-47C>A	EYA1 (T14K)	Single nucleotide variant (5 prime UTR variant +1 more)	Otofaciocervical syndrome 1 +1 more	GBenign/Likely benign
Select item 363664	NM_000503.6(EYA1):c.159T>C (p.Ala53=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	Otofaciocervical syndrome 1 +1 more	GBenign/Likely benign
Select item 363663	NM_000503.6(EYA1):c.196G>T (p.Gly66Cys)	EYA1 (G66C +1 more)	Single nucleotide variant (missense variant +1 more)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363662	NM_000503.6(EYA1):c.203-15G>T	EYA1	Single nucleotide variant (intron variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363661	NM_000503.6(EYA1):c.325T>C (p.Tyr109His)	EYA1 (Y109H +3 more)	Single nucleotide variant (missense variant +1 more)	EYA1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 363660	NM_000503.6(EYA1):c.556+5G>C	EYA1	Single nucleotide variant (intron variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363659	NM_000503.6(EYA1):c.557-12A>G	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +2 more	GLikely benign
Select item 363658	NM_000503.6(EYA1):c.630T>C (p.Ser210=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +3 more	GLikely benign
Select item 363657	NM_000503.6(EYA1):c.648G>A (p.Pro216=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 1 +3 more	GBenign/Likely benign
Select item 363656	NM_000503.6(EYA1):c.743C>T (p.Thr248Met)	EYA1 (T248M +5 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1 +1 more	GLikely benign
Select item 363655	NM_000503.6(EYA1):c.782C>T (p.Pro261Leu)	EYA1 (P261L +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 363654	NM_000503.6(EYA1):c.783G>A (p.Pro261=)	EYA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 363653	NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)	EYA1 (R297Q +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 363652	NM_000503.6(EYA1):c.923G>A (p.Arg308Gln)	EYA1 (R308Q +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +3 more	GBenign/Likely benign
Select item 363651	NM_000503.6(EYA1):c.966+4C>T	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +5 more	GBenign/Likely benign
Select item 363650	NM_000503.6(EYA1):c.1200-11C>A	EYA1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 363649	NM_000503.6(EYA1):c.1258T>C (p.Leu420=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 1 +1 more	GUncertain significance
Select item 363648	NM_000503.6(EYA1):c.1475+15G>A	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +2 more	GBenign/Likely 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 363646	NM_000503.6(EYA1):c.*23G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 1 +2 more	GBenign/Likely benign

<< First< Prev

Page of 2