HYCC1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359712	NM_032581.4(HYCC1):c.*4329del	HYCC1	Deletion (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359713	NM_032581.4(HYCC1):c.4278_4279insGT	HYCC1	Insertion (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359714	NM_032581.4(HYCC1):c.*4255A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359715	NM_032581.4(HYCC1):c.*4221G>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 359716	NM_032581.4(HYCC1):c.*4219T>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359717	NM_032581.4(HYCC1):c.*4043A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359718	NM_032581.4(HYCC1):c.*3878C>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359719	NM_032581.4(HYCC1):c.*3804A>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 912014	NM_032581.4(HYCC1):c.*3798A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359720	NM_032581.4(HYCC1):c.*3753C>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 912017	NM_032581.4(HYCC1):c.*3739A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359721	NM_032581.4(HYCC1):c.*3680A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 912018	NM_032581.4(HYCC1):c.*3575A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359722	NM_032581.4(HYCC1):c.*3491A>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359723	NM_032581.4(HYCC1):c.3486_3489del	HYCC1	Deletion (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 912019	NM_032581.4(HYCC1):c.*3278G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359724	NM_032581.4(HYCC1):c.*3266C>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 909099	NM_032581.4(HYCC1):c.*3167T>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 909100	NM_032581.4(HYCC1):c.*3106G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 909101	NM_032581.4(HYCC1):c.*3046G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359725	NM_032581.4(HYCC1):c.*3001A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359726	NM_032581.4(HYCC1):c.*2976G>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359727	NM_032581.4(HYCC1):c.*2905T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359728	NM_032581.4(HYCC1):c.*2904A>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 909102	NM_032581.4(HYCC1):c.*2878T>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359729	NM_032581.4(HYCC1):c.*2822A>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359730	NM_032581.4(HYCC1):c.*2661C>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 909956	NM_032581.4(HYCC1):c.*2654G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359731	NM_032581.4(HYCC1):c.*2459C>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359732	NM_032581.4(HYCC1):c.*2379AT[1]	HYCC1	Microsatellite (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 909957	NM_032581.4(HYCC1):c.*2286G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359733	NM_032581.4(HYCC1):c.*2198A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 359734	NM_032581.4(HYCC1):c.*2111G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359735	NM_032581.4(HYCC1):c.*2108G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 909958	NM_032581.4(HYCC1):c.*2081T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359736	NM_032581.4(HYCC1):c.*2062G>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 910854	NM_032581.4(HYCC1):c.*2060A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359737	NM_032581.4(HYCC1):c.*2044A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359738	NM_032581.4(HYCC1):c.*2001T>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359739	NM_032581.4(HYCC1):c.*1969G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359740	NM_032581.4(HYCC1):c.*1878T>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359741	NM_032581.4(HYCC1):c.*1812C>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359742	NM_032581.4(HYCC1):c.*1796A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 910855	NM_032581.4(HYCC1):c.*1773C>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 912072	NM_032581.4(HYCC1):c.*1750G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359743	NM_032581.4(HYCC1):c.*1608A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359744	NM_032581.4(HYCC1):c.*1596A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359745	NM_032581.4(HYCC1):c.*1506T>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359746	NM_032581.4(HYCC1):c.*1481G>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 912073	NM_032581.4(HYCC1):c.*1443G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359747	NM_032581.4(HYCC1):c.*1428T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 908063	NM_032581.4(HYCC1):c.*1382G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 908064	NM_032581.4(HYCC1):c.*1358C>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359748	NM_032581.4(HYCC1):c.*1354A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 908065	NM_032581.4(HYCC1):c.*1319T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359749	NM_032581.4(HYCC1):c.*1318A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359750	NM_032581.4(HYCC1):c.*1255A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 908066	NM_032581.4(HYCC1):c.*1059G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359751	NM_032581.4(HYCC1):c.*1008G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359752	NM_032581.4(HYCC1):c.*1007T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 910020	NM_032581.4(HYCC1):c.*940A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359753	NM_032581.4(HYCC1):c.*858T>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359754	NM_032581.4(HYCC1):c.*829T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 910021	NM_032581.4(HYCC1):c.*798C>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 910022	NM_032581.4(HYCC1):c.*646T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 910023	NM_032581.4(HYCC1):c.*622G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 910912	NM_032581.4(HYCC1):c.*583A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 359755	NM_032581.4(HYCC1):c.*515A>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 910913	NM_032581.4(HYCC1):c.*506A>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 910914	NM_032581.4(HYCC1):c.*452G>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359756	NM_032581.4(HYCC1):c.*437G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359758	NM_032581.4(HYCC1):c.435_436delinsTG	HYCC1	Indel (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359757	NM_032581.4(HYCC1):c.*436T>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359759	NM_032581.4(HYCC1):c.*435C>T	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 910915	NM_032581.4(HYCC1):c.*416G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359760	NM_032581.4(HYCC1):c.*384A>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GBenign
Select item 359761	NM_032581.4(HYCC1):c.*372G>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 912143	NM_032581.4(HYCC1):c.*314T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359762	NM_032581.4(HYCC1):c.*241T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 359763	NM_032581.4(HYCC1):c.*232T>C	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359764	NM_032581.4(HYCC1):c.*198T>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 359765	NM_032581.4(HYCC1):c.*180G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 912144	NM_032581.4(HYCC1):c.*99G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359766	NM_032581.4(HYCC1):c.*94G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359767	NM_032581.4(HYCC1):c.*77C>G	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 908129	NM_032581.4(HYCC1):c.*66G>A	HYCC1	Single nucleotide variant (3 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 1377897	NM_032581.4(HYCC1):c.1561G>A (p.Asp521Asn)	HYCC1 (D521N)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359768	NM_032581.4(HYCC1):c.1555T>C (p.Ser519Pro)	HYCC1 (S519P)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GBenign
Select item 3030451	NM_032581.4(HYCC1):c.1536T>C (p.Pro512=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	HYCC1-related disorder	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 1163468	NM_032581.4(HYCC1):c.1525C>G (p.Gln509Glu)	HYCC1 (Q509E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 800218	NM_032581.4(HYCC1):c.1519G>C (p.Gly507Arg)	HYCC1 (G507R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1063805	NM_032581.4(HYCC1):c.1515A>C (p.Gln505His)	HYCC1 (Q505H)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359769	NM_032581.4(HYCC1):c.1515A>G (p.Gln505=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GConflicting classifications of pathogenicity
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 810075	NM_032581.4(HYCC1):c.1504A>G (p.Met502Val)	HYCC1 (M502V)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GUncertain significance
Select item 430052	NM_032581.4(HYCC1):c.1492A>G (p.Thr498Ala)	HYCC1 (T498A)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GConflicting classifications of pathogenicity
Select item 359770	NM_032581.4(HYCC1):c.1480G>A (p.Val494Ile)	HYCC1 (V494I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 908130	NM_032581.4(HYCC1):c.1479C>T (p.Tyr493=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract	GUncertain significance

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