ClinVar for Gene (Select 2138) - ClinVar - NCBI

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	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 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063008	GRCh37/hg19 8q13.3(chr8:71676769-72133898)x3	EYA1	Copy number gain	not specified	GUncertain significance
Select item 3063003	GRCh37/hg19 8q13.2-13.3(chr8:69889747-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 3057474	NM_000503.6(EYA1):c.339G>A (p.Gln113=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	EYA1-related condition	GLikely benign
Select item 3047986	NM_000503.6(EYA1):c.911G>A (p.Arg304His)	EYA1 (R182H +6 more)	Single nucleotide variant (missense variant)	EYA1-related condition	GUncertain significance
Select item 3014375	NM_000503.6(EYA1):c.418+11T>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 3014269	NM_000503.6(EYA1):c.1461G>A (p.Ser487=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign
Select item 3014257	NM_000503.6(EYA1):c.273-20C>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 3005657	NM_000503.6(EYA1):c.411C>G (p.Ser137=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2998354	NM_000503.6(EYA1):c.272+13T>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2972772	NM_000503.6(EYA1):c.128A>C (p.Lys43Thr)	EYA1 (K43T +2 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome	GUncertain significance
Select item 2967503	NM_000503.6(EYA1):c.1050+20A>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2966479	NM_000503.6(EYA1):c.1199+12T>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2964664	NM_000503.6(EYA1):c.755C>T (p.Thr252Ile)	EYA1 (T219I +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2920030	NM_000503.6(EYA1):c.1445C>T (p.Ala482Val)	EYA1 (A476V +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2918831	NM_000503.6(EYA1):c.1169T>C (p.Val390Ala)	EYA1 (V384A +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2917582	NM_000503.6(EYA1):c.419-2A>G	EYA1	Single nucleotide variant (intron variant +1 more)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 2914092	NM_000503.6(EYA1):c.418+10C>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2907611	NM_000503.6(EYA1):c.206T>C (p.Ile69Thr)	EYA1 (I69T +2 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome	GUncertain significance
Select item 2903069	NM_000503.6(EYA1):c.1080G>T (p.Leu360=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	Melnick-Fraser syndrome	GLikely benign
Select item 2877312	NM_000503.6(EYA1):c.966+4C>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2858610	NM_000503.6(EYA1):c.664G>T (p.Gly222Cys)	EYA1 (G100C +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2852932	NM_000503.6(EYA1):c.418+5G>A	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2851387	NM_000503.6(EYA1):c.8T>G (p.Met3Arg)	EYA1 (M32R +1 more)	Single nucleotide variant (missense variant +2 more)	Melnick-Fraser syndrome	GUncertain significance
Select item 2821056	NM_000503.6(EYA1):c.418+10C>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	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 2807432	NM_000503.6(EYA1):c.1313A>G (p.Tyr438Cys)	EYA1 (Y316C +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2803135	NM_000503.6(EYA1):c.273-10T>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2802791	NM_000503.6(EYA1):c.436A>G (p.Ile146Val)	EYA1 (I146V +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2770805	NM_000503.6(EYA1):c.1009C>T (p.His337Tyr)	EYA1 (H215Y +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2769585	NM_000503.6(EYA1):c.557-1G>A	EYA1	Single nucleotide variant (splice acceptor variant)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 2765607	NM_000503.6(EYA1):c.1577T>G (p.Ile526Ser)	EYA1 (I555S +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2756757	NM_000503.6(EYA1):c.966+14A>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2747443	NM_000503.6(EYA1):c.1082G>C (p.Arg361Pro)	EYA1 (R239P +4 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome	GUncertain significance
Select item 2741006	NM_000503.6(EYA1):c.1246G>A (p.Ala416Thr)	EYA1 (A294T +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2740880	NM_000503.6(EYA1):c.640-14G>A	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2740702	NM_000503.6(EYA1):c.799A>G (p.Ser267Gly)	EYA1 (S145G +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2735182	NM_000503.6(EYA1):c.1360+5G>A	EYA1	Single nucleotide variant (intron variant)	EYA1-related condition +1 more	GPathogenic
Select item 2730338	NM_000503.6(EYA1):c.1618A>G (p.Arg540Gly)	EYA1 (R540G +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2727976	NM_000503.6(EYA1):c.922dup (p.Arg308fs)	EYA1 (R332fs +6 more)	Duplication (frameshift variant)	Melnick-Fraser syndrome	GPathogenic
Select item 2726245	NM_000503.6(EYA1):c.827-20T>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2726111	NM_000503.6(EYA1):c.417T>C (p.Tyr139=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2724964	NM_000503.6(EYA1):c.1704G>A (p.Ala568=)	EYA1	Single nucleotide variant (synonymous variant)	EYA1-related condition +1 more	GLikely benign
Select item 2724962	NM_000503.6(EYA1):c.75C>T (p.Leu25=)	EYA1	Single nucleotide variant (synonymous variant +2 more)	Melnick-Fraser syndrome	GLikely benign
Select item 2721721	NM_000503.6(EYA1):c.1488G>A (p.Val496=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2721037	NM_000503.6(EYA1):c.1273C>G (p.Arg425Gly)	EYA1 (R303G +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2718851	NM_000503.6(EYA1):c.640-16T>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2717551	NM_000503.6(EYA1):c.1475+6del	EYA1	Deletion (intron variant)	EYA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2717003	NM_000503.6(EYA1):c.1771dup (p.Tyr591fs)	EYA1 (Y591fs +5 more)	Duplication (frameshift variant)	Melnick-Fraser syndrome	GPathogenic
Select item 2709835	NM_000503.6(EYA1):c.273-18G>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2701576	NM_000503.6(EYA1):c.1140+4A>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2699556	NM_000503.6(EYA1):c.906A>T (p.Lys302Asn)	EYA1 (K296N +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
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 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 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 2663744	NM_000503.6(EYA1):c.811A>T (p.Thr271Ser)	EYA1 (T149S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2658647	NM_001370334.1(EYA1):c.-135A>C	EYA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637857	NM_000503.6(EYA1):c.1211T>G (p.Phe404Cys)	EYA1 (F282C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637231	NM_000503.6(EYA1):c.717T>G (p.Tyr239Ter)	EYA1 (Y117* +6 more)	Single nucleotide variant (nonsense)	EYA1-related condition	GPathogenic
Select item 2635802	NM_000503.6(EYA1):c.1082G>A (p.Arg361Gln)	EYA1 (R239Q +4 more)	Single nucleotide variant (missense variant +1 more)	EYA1-related condition	GUncertain significance
Select item 2633645	NM_000503.6(EYA1):c.1771T>A (p.Tyr591Asn)	EYA1 (Y469N +5 more)	Single nucleotide variant (missense variant)	EYA1-related condition	GUncertain significance
Select item 2633337	NM_000503.6(EYA1):c.133_149del (p.Thr44_Glu45insTer)	EYA1	Deletion (nonsense +1 more)	EYA1-related condition	GUncertain significance
Select item 2632157	NM_000503.6(EYA1):c.838A>C (p.Ile280Leu)	EYA1 (I158L +6 more)	Single nucleotide variant (missense variant)	EYA1-related condition	GUncertain significance
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 2577742	NM_000503.6(EYA1):c.296C>T (p.Pro99Leu)	EYA1 (P127L +4 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +1 more	GConflicting classifications of pathogenicity
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 2575017	NM_000503.6(EYA1):c.1570G>T (p.Glu524Ter)	EYA1 (E402* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2574939	NM_000503.6(EYA1):c.845_852del (p.Ser282fs)	EYA1 (S160fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2556532	NM_000503.6(EYA1):c.141G>A (p.Met47Ile)	EYA1 (M76I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2504948	NM_000503.6(EYA1):c.1145G>A (p.Cys382Tyr)	EYA1 (C260Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502735	NM_000503.6(EYA1):c.1053T>G (p.Asp351Glu)	EYA1 (D229E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501641	NM_000503.6(EYA1):c.1029del (p.Tyr344fs)	EYA1 (Y222fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2499722	NM_000503.6(EYA1):c.1310G>A (p.Arg437His)	EYA1 (R315H +5 more)	Single nucleotide variant (missense variant)	not provided	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 2444665	NM_000503.6(EYA1):c.1699-119_1699-116dup	EYA1	Duplication (intron variant)	not provided	GLikely benign
Select item 2442529	NM_000503.6(EYA1):c.971T>C (p.Val324Ala)	EYA1 (V202A +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 2423180	NC_000008.10:g.(?_72111575)_(72246429_?)del	EYA1	Deletion	Melnick-Fraser syndrome	GPathogenic
Select item 2333895	NM_000503.6(EYA1):c.706C>A (p.Pro236Thr)	EYA1 (P203T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326202	NM_000503.6(EYA1):c.704A>T (p.Tyr235Phe)	EYA1 (Y113F +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285713	NM_000503.6(EYA1):c.1321G>A (p.Val441Ile)	EYA1 (V434I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284181	NM_000503.6(EYA1):c.617C>T (p.Ser206Phe)	EYA1 (S173F +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278557	NM_000503.6(EYA1):c.1285G>C (p.Asp429His)	EYA1 (D423H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197800	NM_000503.6(EYA1):c.147C>T (p.Ser49=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	Melnick-Fraser syndrome	GBenign
Select item 2196870	NM_000503.6(EYA1):c.113A>G (p.Asn38Ser)	EYA1 (N38S +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome	GUncertain significance
Select item 2193546	NM_000503.6(EYA1):c.255A>G (p.Pro85=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	Melnick-Fraser syndrome	GLikely benign
Select item 2179327	NM_000503.6(EYA1):c.1051-18G>A	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2156856	NM_000503.6(EYA1):c.1598-19ATTT[3]	EYA1	Microsatellite (intron variant)	Melnick-Fraser syndrome	GBenign
Select item 2155224	NM_000503.6(EYA1):c.702G>A (p.Pro234=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GBenign
Select item 2148113	NM_000503.6(EYA1):c.402C>T (p.Tyr134=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign

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