ClinVar for MedGen (Select 501134) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 284

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336789	NM_032581.4(HYCC1):c.169T>C (p.Cys57Arg)	HYCC1 (C57R)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GConflicting classifications of pathogenicity
Select item 3064074	NM_032581.4(HYCC1):c.145C>T (p.Gln49Ter)	HYCC1 (Q49*)	Single nucleotide variant (nonsense)	Hypomyelination and Congenital Cataract	GLikely pathogenic
Select item 3012628	NM_032581.4(HYCC1):c.832-13T>C	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2963655	NM_032581.4(HYCC1):c.1302A>T (p.Leu434=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2906450	NM_032581.4(HYCC1):c.615A>G (p.Gln205=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2902484	NM_032581.4(HYCC1):c.21G>C (p.Gly7=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2860617	NM_032581.4(HYCC1):c.414+5G>C	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2857701	NM_032581.4(HYCC1):c.832-18T>G	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2833006	NM_032581.4(HYCC1):c.1267T>C (p.Leu423=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2823050	NM_032581.4(HYCC1):c.598C>G (p.Leu200Val)	HYCC1 (L200V)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2798175	NM_032581.4(HYCC1):c.858G>A (p.Leu286=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2737898	NM_032581.4(HYCC1):c.1398G>A (p.Pro466=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2726826	NM_032581.4(HYCC1):c.522A>G (p.Ala174=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2712226	NM_032581.4(HYCC1):c.453A>T (p.Ala151=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2503877	NM_032581.4(HYCC1):c.349C>T (p.Gln117Ter)	HYCC1 (Q117*)	Single nucleotide variant (nonsense)	Hypomyelination and Congenital Cataract	GLikely pathogenic
Select item 2501025	NM_032581.4(HYCC1):c.639del (p.Cys213fs)	HYCC1 (C213fs)	Deletion (frameshift variant)	Hypomyelination and Congenital Cataract	GLikely pathogenic
Select item 2424085	NC_000007.13:g.(?_20994491)_(23030730_?)del	CDCA7L, DNAH11 +7 more	Deletion	Hypomyelination and Congenital Cataract +1 more	GPathogenic
Select item 2420003	NM_032581.4(HYCC1):c.269C>T (p.Ser90Leu)	HYCC1 (S90L)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2416608	NM_032581.4(HYCC1):c.198T>C (p.Ser66=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2196790	NM_032581.4(HYCC1):c.1313G>A (p.Ser438Asn)	HYCC1 (S438N)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2195708	NM_032581.4(HYCC1):c.333+15G>A	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2187904	NM_032581.4(HYCC1):c.86C>A (p.Thr29Lys)	HYCC1 (T29K)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2181631	NM_032581.4(HYCC1):c.301A>G (p.Ile101Val)	HYCC1 (I101V)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2180638	NM_032581.4(HYCC1):c.1419G>T (p.Gly473=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2175412	NM_032581.4(HYCC1):c.531-16T>G	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2174448	NM_032581.4(HYCC1):c.778C>T (p.Leu260=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2169468	NM_032581.4(HYCC1):c.22G>A (p.Val8Ile)	HYCC1 (V8I)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2163287	NM_032581.4(HYCC1):c.1347A>T (p.Val449=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2156966	NM_032581.4(HYCC1):c.1178A>G (p.Glu393Gly)	HYCC1 (E393G)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2156691	NM_032581.4(HYCC1):c.1413T>C (p.Gly471=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2156239	NM_032581.4(HYCC1):c.286C>T (p.His96Tyr)	HYCC1 (H96Y)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2149245	NM_032581.4(HYCC1):c.1192G>A (p.Gly398Arg)	HYCC1 (G398R)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2141076	NM_032581.4(HYCC1):c.487A>G (p.Ser163Gly)	HYCC1 (S163G)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2132598	NM_032581.4(HYCC1):c.471G>A (p.Leu157=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2116835	NM_032581.4(HYCC1):c.154-1G>T	HYCC1	Single nucleotide variant (splice acceptor variant)	Hypomyelination and Congenital Cataract	GLikely pathogenic
Select item 2101021	NM_032581.4(HYCC1):c.1088G>A (p.Gly363Asp)	HYCC1 (G363D)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2096388	NM_032581.4(HYCC1):c.1259T>G (p.Leu420Arg)	HYCC1 (L420R)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2093614	NM_032581.4(HYCC1):c.717A>C (p.Gln239His)	HYCC1 (Q239H)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2082165	NM_032581.4(HYCC1):c.896G>A (p.Arg299Lys)	HYCC1 (R299K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2079728	NM_032581.4(HYCC1):c.967A>C (p.Arg323=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2078310	NM_032581.4(HYCC1):c.384A>G (p.Pro128=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2074574	NM_032581.4(HYCC1):c.133A>T (p.Ile45Phe)	HYCC1 (I45F)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2070517	NM_032581.4(HYCC1):c.878C>T (p.Ser293Phe)	HYCC1 (S293F)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 2063675	NM_032581.4(HYCC1):c.1130T>C (p.Ile377Thr)	HYCC1 (I377T)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 2062168	NM_032581.4(HYCC1):c.377C>T (p.Thr126Met)	HYCC1 (T126M)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2051243	NM_032581.4(HYCC1):c.52-4T>A	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2047465	NM_032581.4(HYCC1):c.1308G>A (p.Lys436=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 2046766	NM_032581.4(HYCC1):c.1532C>T (p.Pro511Leu)	HYCC1 (P511L)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2026137	NM_032581.4(HYCC1):c.194G>A (p.Arg65His)	HYCC1 (R65H)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2025861	NM_032581.4(HYCC1):c.1373G>A (p.Ser458Asn)	HYCC1 (S458N)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 2011178	NM_032581.4(HYCC1):c.831+5G>A	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1995184	NM_032581.4(HYCC1):c.1371C>A (p.Val457=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1991929	NM_032581.4(HYCC1):c.201A>G (p.Gly67=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1980854	NM_032581.4(HYCC1):c.318A>C (p.Leu106=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1978168	NM_032581.4(HYCC1):c.831+4G>A	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1976855	NM_032581.4(HYCC1):c.1140C>A (p.Asn380Lys)	HYCC1 (N380K)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1976854	NM_032581.4(HYCC1):c.1143C>A (p.His381Gln)	HYCC1 (H381Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1973611	NM_032581.4(HYCC1):c.1408G>C (p.Val470Leu)	HYCC1 (V470L)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1970917	NM_032581.4(HYCC1):c.518C>G (p.Thr173Arg)	HYCC1 (T173R)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1960273	NM_032581.4(HYCC1):c.396A>G (p.Lys132=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1955830	NM_032581.4(HYCC1):c.334-3dup	HYCC1	Duplication (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1951719	NM_032581.4(HYCC1):c.1132G>A (p.Gly378Arg)	HYCC1 (G378R)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1951021	NM_032581.4(HYCC1):c.1083G>A (p.Gln361=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1932044	NM_032581.4(HYCC1):c.1506G>A (p.Met502Ile)	HYCC1 (M502I)	Single nucleotide variant (missense variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1922293	NM_032581.4(HYCC1):c.453A>C (p.Ala151=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1921597	NM_032581.4(HYCC1):c.786T>C (p.Asp262=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1907213	NM_032581.4(HYCC1):c.992-6G>T	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1901890	NM_032581.4(HYCC1):c.641G>A (p.Gly214Glu)	HYCC1 (G214E)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1679236	NM_032581.4(HYCC1):c.832-2A>T	HYCC1	Single nucleotide variant (splice acceptor variant)	Hypomyelination and Congenital Cataract	GLikely pathogenic
Select item 1674794	NM_032581.4(HYCC1):c.549C>T (p.Phe183=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1671212	NM_032581.4(HYCC1):c.52-17T>C	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1668678	NM_032581.4(HYCC1):c.948A>G (p.Ala316=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1663102	NM_032581.4(HYCC1):c.321G>C (p.Gly107=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1662078	NM_032581.4(HYCC1):c.333+11A>C	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1661261	NM_032581.4(HYCC1):c.963A>G (p.Ser321=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1645279	NM_032581.4(HYCC1):c.52-4T>G	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1643634	NM_032581.4(HYCC1):c.1446C>T (p.Ser482=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1629259	NM_032581.4(HYCC1):c.52-13T>A	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1628844	NM_032581.4(HYCC1):c.1137G>A (p.Lys379=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1597276	NM_032581.4(HYCC1):c.378G>A (p.Thr126=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1585942	NM_032581.4(HYCC1):c.483A>G (p.Val161=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1585061	NM_032581.4(HYCC1):c.744-7T>G	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1585052	NM_032581.4(HYCC1):c.334-20A>G	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1584289	NM_032581.4(HYCC1):c.52-9T>A	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1571940	NM_032581.4(HYCC1):c.1113T>C (p.Cys371=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1564196	NM_032581.4(HYCC1):c.627-10G>T	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1561084	NM_032581.4(HYCC1):c.1335C>T (p.Thr445=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1552729	NM_032581.4(HYCC1):c.1524G>A (p.Gln508=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1545671	NM_032581.4(HYCC1):c.1086G>C (p.Ser362=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1543535	NM_032581.4(HYCC1):c.432C>G (p.Ser144=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 1543419	NM_032581.4(HYCC1):c.99C>T (p.Asp33=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1537163	NM_032581.4(HYCC1):c.991+13T>C	HYCC1	Single nucleotide variant (intron variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1536485	NM_032581.4(HYCC1):c.168C>G (p.Val56=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract +1 more	GLikely benign
Select item 1533208	NM_032581.4(HYCC1):c.1029G>A (p.Glu343=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1529463	NM_032581.4(HYCC1):c.1176A>G (p.Lys392=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1528882	NM_032581.4(HYCC1):c.826T>C (p.Leu276=)	HYCC1	Single nucleotide variant (synonymous variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 1525115	NM_032581.4(HYCC1):c.1085C>T (p.Ser362Leu)	HYCC1 (S362L)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1518696	NM_032581.4(HYCC1):c.443C>T (p.Thr148Ile)	HYCC1 (T148I)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1509308	NM_032581.4(HYCC1):c.461A>G (p.Gln154Arg)	HYCC1 (Q154R)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 1508219	NM_032581.4(HYCC1):c.1340C>T (p.Ala447Val)	HYCC1 (A447V)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance

<< First< Prev

Page of 3