ClinVar for MedGen (Select 501134) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25038771.	NM_032581.4(HYCC1):c.349C>T (p.Gln117Ter) GRCh37: Chr7:23017025 GRCh38: Chr7:22977406	HYCC1	Q117*	Hypomyelination and Congenital Cataract	Likely pathogenic (Mar 6, 2023)	criteria provided, single submitter
Select item 25010252.	NM_032581.4(HYCC1):c.639del (p.Cys213fs) GRCh37: Chr7:23004138 GRCh38: Chr7:22964519	HYCC1	C213fs	Hypomyelination and Congenital Cataract	Likely pathogenic (Feb 1, 2023)	criteria provided, single submitter
Select item 24240853.	NC_000007.13:g.(?_20994491)_(23030730_?)del GRCh37: Chr7:20994491-23030730	CDCA7L, DNAH11, HYCC1, IL6, IL6-AS1, RAPGEF5, SP4, STEAP1B, TOMM7		Ciliary dyskinesia, Hypomyelination and Congenital Cataract	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 24200034.	NM_032581.4(HYCC1):c.269C>T (p.Ser90Leu) GRCh37: Chr7:23017952 GRCh38: Chr7:22978333	HYCC1	S90L	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 24166085.	NM_032581.4(HYCC1):c.198T>C (p.Ser66=) GRCh37: Chr7:23018023 GRCh38: Chr7:22978404	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 21967906.	NM_032581.4(HYCC1):c.1313G>A (p.Ser438Asn) GRCh37: Chr7:22985461 GRCh38: Chr7:22945842	HYCC1	S438N	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 21957087.	NM_032581.4(HYCC1):c.333+15G>A GRCh37: Chr7:23017873 GRCh38: Chr7:22978254	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 21879048.	NM_032581.4(HYCC1):c.86C>A (p.Thr29Lys) GRCh37: Chr7:23023630 GRCh38: Chr7:22984011	HYCC1	T29K	Hypomyelination and Congenital Cataract	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 21816319.	NM_032581.4(HYCC1):c.301A>G (p.Ile101Val) GRCh37: Chr7:23017920 GRCh38: Chr7:22978301	HYCC1	I101V	Hypomyelination and Congenital Cataract	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 218063810.	NM_032581.4(HYCC1):c.1419G>T (p.Gly473=) GRCh37: Chr7:22985355 GRCh38: Chr7:22945736	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 217541211.	NM_032581.4(HYCC1):c.531-16T>G GRCh37: Chr7:23015940 GRCh38: Chr7:22976321	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 217444812.	NM_032581.4(HYCC1):c.778C>T (p.Leu260=) GRCh37: Chr7:23000907 GRCh38: Chr7:22961288	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 216946813.	NM_032581.4(HYCC1):c.22G>A (p.Val8Ile) GRCh37: Chr7:23030709 GRCh38: Chr7:22991090	HYCC1	V8I	Hypomyelination and Congenital Cataract	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 216328714.	NM_032581.4(HYCC1):c.1347A>T (p.Val449=) GRCh37: Chr7:22985427 GRCh38: Chr7:22945808	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 215696615.	NM_032581.4(HYCC1):c.1178A>G (p.Glu393Gly) GRCh37: Chr7:22985596 GRCh38: Chr7:22945977	HYCC1	E393G	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 215669116.	NM_032581.4(HYCC1):c.1413T>C (p.Gly471=) GRCh37: Chr7:22985361 GRCh38: Chr7:22945742	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 215623917.	NM_032581.4(HYCC1):c.286C>T (p.His96Tyr) GRCh37: Chr7:23017935 GRCh38: Chr7:22978316	HYCC1	H96Y	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 214924518.	NM_032581.4(HYCC1):c.1192G>A (p.Gly398Arg) GRCh37: Chr7:22985582 GRCh38: Chr7:22945963	HYCC1	G398R	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 214107619.	NM_032581.4(HYCC1):c.487A>G (p.Ser163Gly) GRCh37: Chr7:23016355 GRCh38: Chr7:22976736	HYCC1	S163G	Hypomyelination and Congenital Cataract	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 213259820.	NM_032581.4(HYCC1):c.471G>A (p.Leu157=) GRCh37: Chr7:23016371 GRCh38: Chr7:22976752	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 211683521.	NM_032581.4(HYCC1):c.154-1G>T GRCh37: Chr7:23018068 GRCh38: Chr7:22978449	HYCC1		Hypomyelination and Congenital Cataract	Likely pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 210102122.	NM_032581.4(HYCC1):c.1088G>A (p.Gly363Asp) GRCh37: Chr7:22985686 GRCh38: Chr7:22946067	HYCC1	G363D	Hypomyelination and Congenital Cataract	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209638823.	NM_032581.4(HYCC1):c.1259T>G (p.Leu420Arg) GRCh37: Chr7:22985515 GRCh38: Chr7:22945896	HYCC1	L420R	Hypomyelination and Congenital Cataract	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 209361424.	NM_032581.4(HYCC1):c.717A>C (p.Gln239His) GRCh37: Chr7:23004060 GRCh38: Chr7:22964441	HYCC1	Q239H	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 208216525.	NM_032581.4(HYCC1):c.896G>A (p.Arg299Lys) GRCh37: Chr7:22999970 GRCh38: Chr7:22960351	HYCC1	R299K	Hypomyelination and Congenital Cataract, not provided	Uncertain significance (Apr 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207972826.	NM_032581.4(HYCC1):c.967A>C (p.Arg323=) GRCh37: Chr7:22999899 GRCh38: Chr7:22960280	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 207831027.	NM_032581.4(HYCC1):c.384A>G (p.Pro128=) GRCh37: Chr7:23016990 GRCh38: Chr7:22977371	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 207457428.	NM_032581.4(HYCC1):c.133A>T (p.Ile45Phe) GRCh37: Chr7:23023583 GRCh38: Chr7:22983964	HYCC1	I45F	Hypomyelination and Congenital Cataract	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 207051729.	NM_032581.4(HYCC1):c.878C>T (p.Ser293Phe) GRCh37: Chr7:22999988 GRCh38: Chr7:22960369	HYCC1	S293F	Inborn genetic diseases, Hypomyelination and Congenital Cataract	Uncertain significance (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206367530.	NM_032581.4(HYCC1):c.1130T>C (p.Ile377Thr) GRCh37: Chr7:22985644 GRCh38: Chr7:22946025	HYCC1	I377T	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 206216831.	NM_032581.4(HYCC1):c.377C>T (p.Thr126Met) GRCh37: Chr7:23016997 GRCh38: Chr7:22977378	HYCC1	T126M	Hypomyelination and Congenital Cataract	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 205124332.	NM_032581.4(HYCC1):c.52-4T>A GRCh37: Chr7:23023668 GRCh38: Chr7:22984049	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 204746533.	NM_032581.4(HYCC1):c.1308G>A (p.Lys436=) GRCh37: Chr7:22985466 GRCh38: Chr7:22945847	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 204676634.	NM_032581.4(HYCC1):c.1532C>T (p.Pro511Leu) GRCh37: Chr7:22985242 GRCh38: Chr7:22945623	HYCC1	P511L	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 202613735.	NM_032581.4(HYCC1):c.194G>A (p.Arg65His) GRCh37: Chr7:23018027 GRCh38: Chr7:22978408	HYCC1	R65H	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 202586136.	NM_032581.4(HYCC1):c.1373G>A (p.Ser458Asn) GRCh37: Chr7:22985401 GRCh38: Chr7:22945782	HYCC1	S458N	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 201117837.	NM_032581.4(HYCC1):c.831+5G>A GRCh37: Chr7:23000849 GRCh38: Chr7:22961230	HYCC1		Hypomyelination and Congenital Cataract	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 199518438.	NM_032581.4(HYCC1):c.1371C>A (p.Val457=) GRCh37: Chr7:22985403 GRCh38: Chr7:22945784	HYCC1		Hypomyelination and Congenital Cataract	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 199192939.	NM_032581.4(HYCC1):c.201A>G (p.Gly67=) GRCh37: Chr7:23018020 GRCh38: Chr7:22978401	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 198085440.	NM_032581.4(HYCC1):c.318A>C (p.Leu106=) GRCh37: Chr7:23017903 GRCh38: Chr7:22978284	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 197816841.	NM_032581.4(HYCC1):c.831+4G>A GRCh37: Chr7:23000850 GRCh38: Chr7:22961231	HYCC1		Hypomyelination and Congenital Cataract	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 197685542.	NM_032581.4(HYCC1):c.1140C>A (p.Asn380Lys) GRCh37: Chr7:22985634 GRCh38: Chr7:22946015	HYCC1	N380K	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 197685443.	NM_032581.4(HYCC1):c.1143C>A (p.His381Gln) GRCh37: Chr7:22985631 GRCh38: Chr7:22946012	HYCC1	H381Q	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 197361144.	NM_032581.4(HYCC1):c.1408G>C (p.Val470Leu) GRCh37: Chr7:22985366 GRCh38: Chr7:22945747	HYCC1	V470L	Hypomyelination and Congenital Cataract	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 197091745.	NM_032581.4(HYCC1):c.518C>G (p.Thr173Arg) GRCh37: Chr7:23016324 GRCh38: Chr7:22976705	HYCC1	T173R	Hypomyelination and Congenital Cataract	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 196027346.	NM_032581.4(HYCC1):c.396A>G (p.Lys132=) GRCh37: Chr7:23016978 GRCh38: Chr7:22977359	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 195583047.	NM_032581.4(HYCC1):c.334-3dup GRCh37: Chr7:23017042-23017043 GRCh38: Chr7:22977423-22977424	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 195171948.	NM_032581.4(HYCC1):c.1132G>A (p.Gly378Arg) GRCh37: Chr7:22985642 GRCh38: Chr7:22946023	HYCC1	G378R	Hypomyelination and Congenital Cataract	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 195102149.	NM_032581.4(HYCC1):c.1083G>A (p.Gln361=) GRCh37: Chr7:22985691 GRCh38: Chr7:22946072	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 193204450.	NM_032581.4(HYCC1):c.1506G>A (p.Met502Ile) GRCh37: Chr7:22985268 GRCh38: Chr7:22945649	HYCC1	M502I	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 192229351.	NM_032581.4(HYCC1):c.453A>C (p.Ala151=) GRCh37: Chr7:23016389 GRCh38: Chr7:22976770	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 192159752.	NM_032581.4(HYCC1):c.786T>C (p.Asp262=) GRCh37: Chr7:23000899 GRCh38: Chr7:22961280	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 190721353.	NM_032581.4(HYCC1):c.992-6G>T GRCh37: Chr7:22985788 GRCh38: Chr7:22946169	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 190189054.	NM_032581.4(HYCC1):c.641G>A (p.Gly214Glu) GRCh37: Chr7:23004136 GRCh38: Chr7:22964517	HYCC1	G214E	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 167923655.	NM_032581.4(HYCC1):c.832-2A>T GRCh37: Chr7:23000036 GRCh38: Chr7:22960417	HYCC1		Hypomyelination and Congenital Cataract	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167479456.	NM_032581.4(HYCC1):c.549C>T (p.Phe183=) GRCh37: Chr7:23015906 GRCh38: Chr7:22976287	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 167121257.	NM_032581.4(HYCC1):c.52-17T>C GRCh37: Chr7:23023681 GRCh38: Chr7:22984062	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 166867858.	NM_032581.4(HYCC1):c.948A>G (p.Ala316=) GRCh37: Chr7:22999918 GRCh38: Chr7:22960299	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jun 1, 2021)	criteria provided, single submitter
Select item 166310259.	NM_032581.4(HYCC1):c.321G>C (p.Gly107=) GRCh37: Chr7:23017900 GRCh38: Chr7:22978281	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 166207860.	NM_032581.4(HYCC1):c.333+11A>C GRCh37: Chr7:23017877 GRCh38: Chr7:22978258	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (May 27, 2021)	criteria provided, single submitter
Select item 166126161.	NM_032581.4(HYCC1):c.963A>G (p.Ser321=) GRCh37: Chr7:22999903 GRCh38: Chr7:22960284	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 164527962.	NM_032581.4(HYCC1):c.52-4T>G GRCh37: Chr7:23023668 GRCh38: Chr7:22984049	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 164363463.	NM_032581.4(HYCC1):c.1446C>T (p.Ser482=) GRCh37: Chr7:22985328 GRCh38: Chr7:22945709	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 162925964.	NM_032581.4(HYCC1):c.52-13T>A GRCh37: Chr7:23023677 GRCh38: Chr7:22984058	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 162884465.	NM_032581.4(HYCC1):c.1137G>A (p.Lys379=) GRCh37: Chr7:22985637 GRCh38: Chr7:22946018	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 159727666.	NM_032581.4(HYCC1):c.378G>A (p.Thr126=) GRCh37: Chr7:23016996 GRCh38: Chr7:22977377	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Nov 14, 2021)	criteria provided, single submitter
Select item 158594267.	NM_032581.4(HYCC1):c.483A>G (p.Val161=) GRCh37: Chr7:23016359 GRCh38: Chr7:22976740	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 158506168.	NM_032581.4(HYCC1):c.744-7T>G GRCh37: Chr7:23000948 GRCh38: Chr7:22961329	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Apr 28, 2021)	criteria provided, single submitter
Select item 158505269.	NM_032581.4(HYCC1):c.334-20A>G GRCh37: Chr7:23017060 GRCh38: Chr7:22977441	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Nov 28, 2020)	criteria provided, single submitter
Select item 158428970.	NM_032581.4(HYCC1):c.52-9T>A GRCh37: Chr7:23023673 GRCh38: Chr7:22984054	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Feb 11, 2021)	criteria provided, single submitter
Select item 157194071.	NM_032581.4(HYCC1):c.1113T>C (p.Cys371=) GRCh37: Chr7:22985661 GRCh38: Chr7:22946042	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 156419672.	NM_032581.4(HYCC1):c.627-10G>T GRCh37: Chr7:23004160 GRCh38: Chr7:22964541	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 156108473.	NM_032581.4(HYCC1):c.1335C>T (p.Thr445=) GRCh37: Chr7:22985439 GRCh38: Chr7:22945820	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 155272974.	NM_032581.4(HYCC1):c.1524G>A (p.Gln508=) GRCh37: Chr7:22985250 GRCh38: Chr7:22945631	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 154567175.	NM_032581.4(HYCC1):c.1086G>C (p.Ser362=) GRCh37: Chr7:22985688 GRCh38: Chr7:22946069	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 154353576.	NM_032581.4(HYCC1):c.432C>G (p.Ser144=) GRCh37: Chr7:23016410 GRCh38: Chr7:22976791	HYCC1		Hypomyelination and Congenital Cataract	Benign (Aug 26, 2021)	criteria provided, single submitter
Select item 154341977.	NM_032581.4(HYCC1):c.99C>T (p.Asp33=) GRCh37: Chr7:23023617 GRCh38: Chr7:22983998	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (May 16, 2021)	criteria provided, single submitter
Select item 153716378.	NM_032581.4(HYCC1):c.991+13T>C GRCh37: Chr7:22999862 GRCh38: Chr7:22960243	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 153648579.	NM_032581.4(HYCC1):c.168C>G (p.Val56=) GRCh37: Chr7:23018053 GRCh38: Chr7:22978434	HYCC1		Hypomyelination and Congenital Cataract, not provided	Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 153320880.	NM_032581.4(HYCC1):c.1029G>A (p.Glu343=) GRCh37: Chr7:22985745 GRCh38: Chr7:22946126	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 152946381.	NM_032581.4(HYCC1):c.1176A>G (p.Lys392=) GRCh37: Chr7:22985598 GRCh38: Chr7:22945979	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Jul 21, 2021)	criteria provided, single submitter
Select item 152888282.	NM_032581.4(HYCC1):c.826T>C (p.Leu276=) GRCh37: Chr7:23000859 GRCh38: Chr7:22961240	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Apr 5, 2021)	criteria provided, single submitter
Select item 152511583.	NM_032581.4(HYCC1):c.1085C>T (p.Ser362Leu) GRCh37: Chr7:22985689 GRCh38: Chr7:22946070	HYCC1	S362L	Hypomyelination and Congenital Cataract	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 151869684.	NM_032581.4(HYCC1):c.443C>T (p.Thr148Ile) GRCh37: Chr7:23016399 GRCh38: Chr7:22976780	HYCC1	T148I	Hypomyelination and Congenital Cataract	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 150930885.	NM_032581.4(HYCC1):c.461A>G (p.Gln154Arg) GRCh37: Chr7:23016381 GRCh38: Chr7:22976762	HYCC1	Q154R	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 150821986.	NM_032581.4(HYCC1):c.1340C>T (p.Ala447Val) GRCh37: Chr7:22985434 GRCh38: Chr7:22945815	HYCC1	A447V	Hypomyelination and Congenital Cataract	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 150661387.	NM_032581.4(HYCC1):c.831+1G>T GRCh37: Chr7:23000853 GRCh38: Chr7:22961234	HYCC1		Hypomyelination and Congenital Cataract	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 150217388.	NM_032581.4(HYCC1):c.863A>C (p.His288Pro) GRCh37: Chr7:23000003 GRCh38: Chr7:22960384	HYCC1	H288P	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 148978689.	NM_032581.4(HYCC1):c.892A>C (p.Thr298Pro) GRCh37: Chr7:22999974 GRCh38: Chr7:22960355	HYCC1	T298P	Hypomyelination and Congenital Cataract	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 147852290.	NM_032581.4(HYCC1):c.176A>G (p.Gln59Arg) GRCh37: Chr7:23018045 GRCh38: Chr7:22978426	HYCC1	Q59R	Hypomyelination and Congenital Cataract	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 146794091.	NM_032581.4(HYCC1):c.608T>C (p.Leu203Pro) GRCh37: Chr7:23015847 GRCh38: Chr7:22976228	HYCC1	L203P	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 146552292.	NM_032581.4(HYCC1):c.627-6T>G GRCh37: Chr7:23004156 GRCh38: Chr7:22964537	HYCC1		Hypomyelination and Congenital Cataract	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 146525193.	NM_032581.4(HYCC1):c.416C>T (p.Pro139Leu) GRCh37: Chr7:23016426 GRCh38: Chr7:22976807	HYCC1	P139L	Hypomyelination and Congenital Cataract	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 146350094.	NM_032581.4(HYCC1):c.542T>C (p.Leu181Ser) GRCh37: Chr7:23015913 GRCh38: Chr7:22976294	HYCC1	L181S	Hypomyelination and Congenital Cataract	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 145985195.	NM_032581.4(HYCC1):c.27G>A (p.Val9=) GRCh37: Chr7:23030704 GRCh38: Chr7:22991085	HYCC1		Hypomyelination and Congenital Cataract	Likely benign (Oct 5, 2021)	criteria provided, single submitter
Select item 145822596.	NM_032581.4(HYCC1):c.414+1G>A GRCh37: Chr7:23016959 GRCh38: Chr7:22977340	HYCC1		Hypomyelination and Congenital Cataract	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 145772697.	NM_032581.4(HYCC1):c.649C>T (p.Arg217Ter) GRCh37: Chr7:23004128 GRCh38: Chr7:22964509	HYCC1	R217*	Hypomyelination and Congenital Cataract	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 145037898.	NM_032581.4(HYCC1):c.775G>A (p.Ala259Thr) GRCh37: Chr7:23000910 GRCh38: Chr7:22961291	HYCC1	A259T	Hypomyelination and Congenital Cataract	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 145002299.	NM_032581.4(HYCC1):c.1291A>G (p.Ser431Gly) GRCh37: Chr7:22985483 GRCh38: Chr7:22945864	HYCC1	S431G	Hypomyelination and Congenital Cataract	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 1448757100.	NM_032581.4(HYCC1):c.1423G>A (p.Gly475Arg) GRCh37: Chr7:22985351 GRCh38: Chr7:22945732	HYCC1	G475R	Hypomyelination and Congenital Cataract	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter

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