ClinVar for MedGen (Select 82693) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245485	NC_000008.10:g.(?_72181955)_(72246429_?)del	EYA1	Deletion	Melnick-Fraser syndrome	GPathogenic
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 +1 more	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)	Melnick-Fraser syndrome	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)	Melnick-Fraser syndrome +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)	Melnick-Fraser syndrome	GUncertain significance
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 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 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 2423180	NC_000008.10:g.(?_72111575)_(72246429_?)del	EYA1	Deletion	Melnick-Fraser syndrome	GPathogenic
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
Select item 2144481	NM_000503.6(EYA1):c.1323A>C (p.Val441=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2136681	NM_000503.6(EYA1):c.678C>G (p.Tyr226Ter)	EYA1 (Y104* +6 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome	GPathogenic
Select item 2136680	NM_000503.6(EYA1):c.679G>A (p.Ala227Thr)	EYA1 (A221T +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2136679	NM_000503.6(EYA1):c.1190A>G (p.Gln397Arg)	EYA1 (Q364R +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2136678	NM_000503.6(EYA1):c.1627C>T (p.Gln543Ter)	EYA1 (Q536* +5 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome	GPathogenic
Select item 2111414	NM_000503.6(EYA1):c.950del (p.Pro317fs)	EYA1 (P340fs +5 more)	Deletion (frameshift variant)	Melnick-Fraser syndrome	GPathogenic
Select item 2102138	NM_000503.6(EYA1):c.1597+1G>T	EYA1	Single nucleotide variant (splice donor variant)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 2081672	NM_000503.6(EYA1):c.1155C>A (p.Val385=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2081341	NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)	EYA1 (R315C +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 2079362	NM_000503.6(EYA1):c.384A>G (p.Pro128=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2073604	NM_000503.6(EYA1):c.218G>A (p.Ser73Asn)	EYA1 (S102N +2 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome	GUncertain significance
Select item 2065899	NM_000503.6(EYA1):c.202+8A>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2064338	NM_000503.6(EYA1):c.1598-1G>C	EYA1	Single nucleotide variant (splice acceptor variant)	Melnick-Fraser syndrome	GPathogenic
Select item 2062548	NM_000503.6(EYA1):c.585A>G (p.Ile195Met)	EYA1 (I73M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2051369	NM_000503.6(EYA1):c.806C>A (p.Ala269Glu)	EYA1 (A236E +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2041647	NM_000503.6(EYA1):c.1223G>A (p.Gly408Asp)	EYA1 (G401D +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2037986	NM_000503.6(EYA1):c.647C>T (p.Pro216Leu)	EYA1 (P216L +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 2035467	NM_000503.6(EYA1):c.1475+10T>A	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2033782	NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)	EYA1 (L361P +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 2031311	NM_000503.6(EYA1):c.272+9_272+10insTTTATT	EYA1	Insertion (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2031310	NM_000503.6(EYA1):c.272+13_272+14insTA	EYA1	Insertion (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2031309	NM_000503.6(EYA1):c.272+15C>A	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2031308	NM_000503.6(EYA1):c.272+17del	EYA1	Deletion (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 2028798	NM_000503.6(EYA1):c.402C>G (p.Tyr134Ter)	EYA1 (Y101* +5 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome	GPathogenic
Select item 2026323	NM_000503.6(EYA1):c.1084del (p.Met362fs)	EYA1 (M240fs +3 more)	Deletion (frameshift variant +1 more)	Melnick-Fraser syndrome	GPathogenic
Select item 2022136	NM_000503.6(EYA1):c.1545T>A (p.Tyr515Ter)	EYA1 (Y482* +5 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome	GPathogenic
Select item 2022135	NM_000503.6(EYA1):c.1570_1571insTA (p.Glu524fs)	EYA1 (E553fs +4 more)	Insertion (frameshift variant)	Melnick-Fraser syndrome	GPathogenic
Select item 2016093	NM_000503.6(EYA1):c.1050+4A>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GPathogenic
Select item 1998220	NM_000503.6(EYA1):c.1248dup (p.Asn417Ter)	EYA1 (N295* +4 more)	Duplication (nonsense +1 more)	Melnick-Fraser syndrome	GPathogenic
Select item 1983323	NM_000503.6(EYA1):c.826+1G>A	EYA1	Single nucleotide variant (splice donor variant)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 1964367	NM_000503.6(EYA1):c.689A>G (p.Tyr230Cys)	EYA1 (Y224C +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 1963608	NM_000503.6(EYA1):c.783G>T (p.Pro261=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign
Select item 1954162	NM_000503.6(EYA1):c.1217C>G (p.Thr406Arg)	EYA1 (T284R +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 1936669	NM_000503.6(EYA1):c.639+20T>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 1931739	NM_000503.6(EYA1):c.1264A>C (p.Thr422Pro)	EYA1 (T389P +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GLikely benign
Select item 1919185	NM_000503.6(EYA1):c.515C>T (p.Thr172Ile)	EYA1 (T196I +6 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 1914576	NM_000503.6(EYA1):c.1206T>C (p.Tyr402=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome	GLikely benign
Select item 1902685	NM_000503.6(EYA1):c.158C>T (p.Ala53Val)	EYA1 (A53V +2 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +1 more	GUncertain significance
Select item 1901765	NM_000503.6(EYA1):c.418+15A>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GLikely benign
Select item 1896817	NM_000503.6(EYA1):c.419-5T>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome	GUncertain significance
Select item 1806804	NM_000503.6(EYA1):c.684G>A (p.Gln228=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +1 more	GConflicting classifications of pathogenicity

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