ClinVar for MedGen (Select 1632634) - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2672207	NM_000503.6(EYA1):c.76G>A (p.Gly26Ser)	EYA1 (G26S +1 more)	Single nucleotide variant (missense variant +2 more)	Branchiootorenal syndrome 1	GUncertain significance
Select item 2442143	NM_000503.6(EYA1):c.981G>A (p.Trp327Ter)	EYA1 (W205* +6 more)	Single nucleotide variant (nonsense)	Branchiootorenal syndrome 1	GPathogenic
Select item 2429116	NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter)	EYA1 (C415* +5 more)	Single nucleotide variant (nonsense)	Branchiootorenal syndrome 1	GPathogenic
Select item 1709105	NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)	EYA1 (Q141* +6 more)	Single nucleotide variant (nonsense)	Branchiootorenal syndrome 1	GLikely pathogenic
Select item 1698897	NM_000503.6(EYA1):c.979T>C (p.Trp327Arg)	EYA1 (W205R +5 more)	Single nucleotide variant (missense variant)	Branchiootorenal 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 condition +4 more	GLikely benign
Select item 1527947	NM_000503.6(EYA1):c.1325A>G (p.Lys442Arg)	EYA1 (K320R +4 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1	GUncertain significance
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 1448479	NM_000503.6(EYA1):c.775C>T (p.Gln259Ter)	EYA1 (Q259* +5 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome +1 more	GPathogenic/Likely pathogenic
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 1339866	NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln)	EYA1 (R370Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1331163	NM_005982.4(SIX1):c.615T>G (p.Pro205=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +4 more	GBenign/Likely benign
Select item 1301541	NM_000503.6(EYA1):c.1051-5T>G	EYA1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 1187931	NM_000503.6(EYA1):c.125-13T>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +4 more	GLikely benign
Select item 975072	NM_000503.6(EYA1):c.1259del (p.Leu420fs)	EYA1 (L298fs +4 more)	Deletion (frameshift variant)	Branchiootorenal syndrome 1	GPathogenic
Select item 974520	NM_000503.6(EYA1):c.929del (p.Asn310fs)	EYA1 (N188fs +5 more)	Deletion (frameshift variant)	Branchiootorenal syndrome 1	GPathogenic
Select item 942519	NM_000503.6(EYA1):c.340T>C (p.Phe114Leu)	EYA1 (F113L +3 more)	Single nucleotide variant (missense variant +1 more)	Branchiootorenal syndrome 1	GUncertain significance
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 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 909567	NM_000503.6(EYA1):c.827-8T>A	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +2 more	GUncertain significance
Select item 834788	NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)	EYA1 (R172* +5 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 832783	NC_000008.11:g.(?_71269720)_(71271917_?)del	EYA1	Deletion	Melnick-Fraser syndrome +1 more	GPathogenic
Select item 831405	NC_000008.11:g.(?_71244583)_(71244712_?)del	EYA1	Deletion	Melnick-Fraser syndrome +1 more	GPathogenic
Select item 831168	NC_000008.11:g.(?_71269720)_(71269843_?)del	EYA1	Deletion	Branchiootorenal syndrome 1 +1 more	GPathogenic
Select item 830006	NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)	EYA1 (S245fs +5 more)	Insertion (frameshift variant)	Branchiootorenal syndrome 1	GLikely pathogenic
Select item 829887	NM_000503.6(EYA1):c.988G>T (p.Asp330Tyr)	EYA1 (D208Y +5 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1	GUncertain significance
Select item 812585	NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter)	EYA1 (S365* +4 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome	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 807414	NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter)	EYA1 (Y249* +5 more)	Single nucleotide variant (nonsense)	Branchiootorenal syndrome 1	GPathogenic
Select item 794861	NM_000503.6(EYA1):c.1455A>C (p.Ala485=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 1	GLikely benign
Select item 772497	NM_000503.6(EYA1):c.399G>A (p.Pro133=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 1 +3 more	GLikely benign
Select item 751952	NM_005982.4(SIX1):c.816C>T (p.Leu272=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GLikely benign
Select item 703043	NM_005982.4(SIX1):c.465G>A (p.Arg155=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +2 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 624333	NM_000503.6(EYA1):c.26C>T (p.Pro9Leu)	EYA1 (P9L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 584228	NC_000008.11:g.(?_71199320)_(71356506_?)del	EYA1, LOC130000578 +4 more	Deletion	Melnick-Fraser syndrome +1 more	GPathogenic
Select item 567492	NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)	EYA1 (Q228* +5 more)	Single nucleotide variant (nonsense)	Branchiootorenal syndrome 1 +1 more	GPathogenic
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	GUncertain significance
Select item 528878	NC_000008.11:g.(?_71244583)_(71322288_?)del	EYA1, LOC130000578 +3 more	Deletion	Branchiootorenal syndrome 1 +1 more	GPathogenic
Select item 522400	NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)	EYA1 (Y348* +5 more)	Single nucleotide variant (nonsense)	Branchiootorenal syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 466172	NM_005982.4(SIX1):c.474C>T (p.Ala158=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +4 more	GLikely benign
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)	Branchiootorenal syndrome 1 +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 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)	not provided +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 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 228679	NM_000503.6(EYA1):c.-24G>T	EYA1 (A22S)	Single nucleotide variant (5 prime UTR variant +1 more)	Branchiootic syndrome 1 +3 more	GUncertain significance
Select item 228677	NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn)	EYA1 (D476N +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 228676	NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp)	EYA1 (R440W +4 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1 +3 more	GUncertain significance
Select item 227367	NM_000503.6(EYA1):c.1377T>A (p.Ala459=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 1 +5 more	GBenign/Likely benign
Select item 227075	NM_005982.4(SIX1):c.162G>A (p.Ala54=)	SIX1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 226638	NM_000503.6(EYA1):c.1598-15A>G	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +4 more	GBenign/Likely benign
Select item 225351	NM_000503.6(EYA1):c.403G>A (p.Gly135Ser)	EYA1 (G135S +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 225350	NM_000503.6(EYA1):c.671G>T (p.Gly224Val)	EYA1 (G224V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198425	NM_000503.6(EYA1):c.548A>G (p.Gln183Arg)	EYA1 (Q183R +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 178689	NM_000503.6(EYA1):c.164C>T (p.Thr55Met)	EYA1 (T55M +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +4 more	GConflicting classifications of pathogenicity
Select item 163441	NM_000503.6(EYA1):c.65G>A (p.Gly22Asp)	EYA1 (G22D +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +4 more	GConflicting classifications of pathogenicity
Select item 163440	NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)	EYA1 (T36I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 163435	NM_000503.6(EYA1):c.840C>A (p.Ile280=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 1 +6 more	GBenign/Likely benign
Select item 163434	NM_000503.6(EYA1):c.1141-15T>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +5 more	GBenign/Likely benign
Select item 163433	NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg)	EYA1 (G396R +4 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1 +3 more	GUncertain significance
Select item 163427	NM_000503.6(EYA1):c.1475+1G>C	EYA1	Single nucleotide variant (splice donor variant)	Branchiootorenal syndrome 1 +3 more	GPathogenic
Select item 48109	NM_000503.6(EYA1):c.813A>G (p.Thr271=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign
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 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 48100	NM_000503.6(EYA1):c.1185C>T (p.Asn395=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign/Likely benign
Select item 8308	NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)	SIX1 (Y129C)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +4 more	GPathogenic/Likely pathogenic
Select item 7945	NM_000503.6(EYA1):c.966+5G>A	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +2 more	GPathogenic
Select item 7943	NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	EYA1 (R361* +3 more)	Single nucleotide variant (nonsense +1 more)	Melnick-Fraser syndrome +3 more	GPathogenic
Select item 7941	NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg)	EYA1 (L505R +4 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1	GPathogenic
Select item 7940	NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)	EYA1 (S487P +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GPathogenic
Select item 7939	NM_000503.6(EYA1):c.489dup (p.Leu164fs)	EYA1 (L158fs +5 more)	Duplication (frameshift variant)	Branchiootorenal syndrome 1	GPathogenic
Select item 7938	NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)	EYA1 (G426S +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 7935	NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	EYA1 (R440Q +4 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
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 7933	NG_011735.4:g.308479_308480insAlu308464_308481dup	EYA1	Insertion	Branchiootorenal syndrome 1	GPathogenic
Select item 7930	NM_000503.6(EYA1):c.1350delinsCC (p.Asn451fs)	EYA1 (N329fs +4 more)	Indel (frameshift variant)	Branchiootorenal syndrome 1	GPathogenic
Select item 7929	NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	EYA1 (R308* +5 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic

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Items: 94