HYCC1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 376

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 144726	GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3	HYCC1, IL6 +23 more	Copy number gain	See cases	GUncertain significance
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

<< First< Prev

Page of 4