ClinVar for MedGen (Select 75567) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24442231.	NM_017780.4(CHD7):c.5955del (p.Phe1985fs) GRCh37: Chr8:61765113 GRCh38: Chr8:60852554	CHD7	F1985fs	CHARGE association	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24441712.	NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter) GRCh37: Chr8:61754544 GRCh38: Chr8:60841985	CHD7	Q1595*	CHARGE association	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24441223.	NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter) GRCh37: Chr8:61757859 GRCh38: Chr8:60845300	CHD7	Q1701*	CHARGE association	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24440594.	NM_017780.4(CHD7):c.6208dup (p.His2070fs) GRCh37: Chr8:61765490-61765491 GRCh38: Chr8:60852931-60852932	CHD7	H2070fs	CHARGE association	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24429995.	NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs) GRCh37: Chr8:61765805-61765809 GRCh38: Chr8:60853246-60853250	CHD7	K2174fs	CHARGE association	Pathogenic (Mar 10, 2023)	criteria provided, single submitter
Select item 24420836.	NM_017780.4(CHD7):c.5300+1G>A GRCh37: Chr8:61761164 GRCh38: Chr8:60848605	CHD7		CHARGE association	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 24419207.	NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser) GRCh37: Chr8:61655403 GRCh38: Chr8:60742844	CHD7	L471S	CHARGE association	Uncertain significance (Mar 23, 2021)	criteria provided, single submitter
Select item 24418848.	NM_017780.4(CHD7):c.2238G>C (p.Gln746His) GRCh37: Chr8:61707686 GRCh38: Chr8:60795127	CHD7	Q746H	CHARGE association	Likely pathogenic (Dec 9, 2022)	criteria provided, single submitter
Select item 24313899.	NM_017780.4(CHD7):c.8329C>A (p.Pro2777Thr) GRCh37: Chr8:61777827 GRCh38: Chr8:60865268	CHD7	P2777T, P728T	CHARGE association	Uncertain significance (Nov 4, 2022)	criteria provided, single submitter
Select item 242580910.	NC_000007.13:g.(?_83047686)_(83119610_?)dup GRCh37: Chr7:83047686-83119610	SEMA3E		CHARGE association	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 242580811.	NC_000007.13:g.(?_82996902)_(82997374_?)dup GRCh37: Chr7:82996902-82997374	SEMA3E		CHARGE association	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 242580712.	NC_000007.13:g.(?_81331897)_(84751207_?)dup GRCh37: Chr7:81331897-84751207	SEMA3D, HGF, CACNA2D1, SEMA3E, SEMA3A, PCLO		CHARGE association	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 242580613.	NC_000007.13:g.(?_83277724)_(83277858_?)del GRCh37: Chr7:83277724-83277858	SEMA3E		CHARGE association	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 242190814.	NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser) GRCh37: Chr7:82997029 GRCh38: Chr7:83367713	SEMA3E	C674S, C734S	CHARGE association	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 242127615.	NM_017780.4(CHD7):c.7807G>A (p.Val2603Ile) GRCh37: Chr8:61773661 GRCh38: Chr8:60861102	CHD7	V2603I	CHARGE association	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 242103416.	NM_017780.4(CHD7):c.8948C>T (p.Ser2983Leu) GRCh37: Chr8:61778446 GRCh38: Chr8:60865887	CHD7	S2983L, S934L	CHARGE association	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 242103217.	NM_017780.4(CHD7):c.1095G>C (p.Gln365His) GRCh37: Chr8:61655086 GRCh38: Chr8:60742527	CHD7	Q365H	CHARGE association	Benign (Apr 9, 2022)	criteria provided, single submitter
Select item 242002818.	NM_017780.4(CHD7):c.4476A>G (p.Leu1492_Arg1493=) GRCh37: Chr8:61750757 GRCh38: Chr8:60838198	CHD7		CHARGE association	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 242002719.	NM_012431.3(SEMA3E):c.907G>C (p.Asp303His) GRCh37: Chr7:83035282 GRCh38: Chr7:83405966	SEMA3E	D243H, D303H	CHARGE association	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 242001420.	NM_017780.4(CHD7):c.4473C>T (p.Leu1491_Leu1492=) GRCh37: Chr8:61750754 GRCh38: Chr8:60838195	CHD7		CHARGE association	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 241889721.	NM_017780.4(CHD7):c.6937-19A>G GRCh37: Chr8:61768515 GRCh38: Chr8:60855956	CHD7		CHARGE association	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 241836622.	NM_017780.4(CHD7):c.7692C>T (p.Asp2564_Pro2565=) GRCh37: Chr8:61773546 GRCh38: Chr8:60860987	CHD7		CHARGE association	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 241825823.	NM_017780.4(CHD7):c.5842G>A (p.Val1948Met) GRCh37: Chr8:61764754 GRCh38: Chr8:60852195	CHD7	V1948M	CHARGE association	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 241792224.	NM_017780.4(CHD7):c.328G>A (p.Val110Ile) GRCh37: Chr8:61654319 GRCh38: Chr8:60741760	CHD7	V110I	CHARGE association	Benign (Aug 3, 2022)	criteria provided, single submitter
Select item 241760125.	NM_017780.4(CHD7):c.838C>T (p.Pro280Ser) GRCh37: Chr8:61654829 GRCh38: Chr8:60742270	CHD7	P280S	CHARGE association	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 241719626.	NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val) GRCh37: Chr8:61778242 GRCh38: Chr8:60865683	CHD7	G2915V, G866V	CHARGE association	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 241608627.	NM_017780.4(CHD7):c.4688G>A (p.Arg1563Lys) GRCh37: Chr8:61754449 GRCh38: Chr8:60841890	CHD7	R1563K	CHARGE association	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 241539928.	NM_017780.4(CHD7):c.2442+7G>A GRCh37: Chr8:61714159 GRCh38: Chr8:60801600	CHD7		CHARGE association	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 241504329.	NM_012431.3(SEMA3E):c.5C>T (p.Ala2Val) GRCh37: Chr7:83277854 GRCh38: Chr7:83648538	SEMA3E	A2V	CHARGE association	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 220280530.	NM_012431.3(SEMA3E):c.781G>C (p.Ala261Pro) GRCh37: Chr7:83036445 GRCh38: Chr7:83407129	SEMA3E	A261P, A201P	CHARGE association	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 220232531.	NM_017780.4(CHD7):c.4353+12C>G GRCh37: Chr8:61750406 GRCh38: Chr8:60837847	CHD7		CHARGE association	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 220173532.	NM_017780.4(CHD7):c.4533+7A>C GRCh37: Chr8:61750821 GRCh38: Chr8:60838262	CHD7		CHARGE association	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 220143033.	NM_017780.4(CHD7):c.5705A>G (p.Tyr1902Cys) GRCh37: Chr8:61764617 GRCh38: Chr8:60852058	CHD7	Y1902C	CHARGE association	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 220081034.	NM_017780.4(CHD7):c.8454C>A (p.Asn2818Lys) GRCh37: Chr8:61777952 GRCh38: Chr8:60865393	CHD7	N2818K, N769K	CHARGE association	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 219997635.	NM_017780.4(CHD7):c.3719A>C (p.Asn1240Thr) GRCh37: Chr8:61743077 GRCh38: Chr8:60830518	CHD7	N1240T	CHARGE association	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 219896736.	NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr) GRCh37: Chr8:61777689 GRCh38: Chr8:60865130	CHD7	A2731T, A682T	CHARGE association	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 219852237.	NM_017780.4(CHD7):c.4354-12T>G GRCh37: Chr8:61750623 GRCh38: Chr8:60838064	CHD7		CHARGE association	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 219801238.	NM_017780.4(CHD7):c.1570C>T (p.His524Tyr) GRCh37: Chr8:61655561 GRCh38: Chr8:60743002	CHD7	H524Y	CHARGE association	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 219754539.	NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys) GRCh37: Chr8:61693733 GRCh38: Chr8:60781174	CHD7	G614C	CHARGE association	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 219750840.	NM_017780.4(CHD7):c.8307G>A (p.Leu2769_Ala2770=) GRCh37: Chr8:61777805 GRCh38: Chr8:60865246	CHD7		CHARGE association	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 219737241.	NM_017780.4(CHD7):c.1509T>C (p.Gly503_Gln504=) GRCh37: Chr8:61655500 GRCh38: Chr8:60742941	CHD7		CHARGE association	Benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219640042.	NM_017780.4(CHD7):c.6766C>G (p.Gln2256Glu) GRCh37: Chr8:61766050 GRCh38: Chr8:60853491	CHD7	Q2256E	CHARGE association	Benign (Jun 20, 2022)	criteria provided, single submitter
Select item 219611543.	NM_012431.3(SEMA3E):c.335C>A (p.Ala112Glu) GRCh37: Chr7:83098560 GRCh38: Chr7:83469244	SEMA3E	A52E, A112E	CHARGE association	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219609144.	NM_017780.4(CHD7):c.4605T>C (p.Ala1535_Lys1536=) GRCh37: Chr8:61754274 GRCh38: Chr8:60841715	CHD7		CHARGE association	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 219587345.	NM_017780.4(CHD7):c.6285G>T (p.Arg2095_His2096=) GRCh37: Chr8:61765569 GRCh38: Chr8:60853010	CHD7		CHARGE association	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219567246.	NM_017780.4(CHD7):c.5092G>A (p.Val1698Met) GRCh37: Chr8:61757850 GRCh38: Chr8:60845291	CHD7	V1698M	CHARGE association, Inborn genetic diseases	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219564647.	NM_012431.3(SEMA3E):c.102C>T (p.Arg34_Leu35=) GRCh37: Chr7:83277757 GRCh38: Chr7:83648441	SEMA3E		CHARGE association	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 219539748.	NM_017780.4(CHD7):c.925C>A (p.Gln309Lys) GRCh37: Chr8:61654916 GRCh38: Chr8:60742357	CHD7	Q309K	CHARGE association	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 219538749.	NM_017780.4(CHD7):c.2467A>G (p.Ile823Val) GRCh37: Chr8:61720800 GRCh38: Chr8:60808241	CHD7	I823V	CHARGE association	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 219537450.	NM_017780.4(CHD7):c.1812C>T (p.Asn604_His605=) GRCh37: Chr8:61693705 GRCh38: Chr8:60781146	CHD7		CHARGE association	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 219507151.	NM_017780.4(CHD7):c.1349T>C (p.Met450Thr) GRCh37: Chr8:61655340 GRCh38: Chr8:60742781	CHD7	M450T	CHARGE association	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 219430352.	NM_017780.4(CHD7):c.2510A>G (p.His837Arg) GRCh37: Chr8:61728957 GRCh38: Chr8:60816398	CHD7	H837R	CHARGE association	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 219399353.	NM_017780.4(CHD7):c.1214C>T (p.Pro405Leu) GRCh37: Chr8:61655205 GRCh38: Chr8:60742646	CHD7	P405L	CHARGE association	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 219366954.	NM_012431.3(SEMA3E):c.807C>T (p.Leu269_Cys270=) GRCh37: Chr7:83036419 GRCh38: Chr7:83407103	SEMA3E		CHARGE association	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 219262155.	NM_017780.4(CHD7):c.8142G>A (p.Ala2714_Ser2715=) GRCh37: Chr8:61777640 GRCh38: Chr8:60865081	CHD7		CHARGE association	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 219088156.	NM_012431.3(SEMA3E):c.202G>A (p.Glu68Lys) GRCh37: Chr7:83119504 GRCh38: Chr7:83490188	SEMA3E	E8K, E68K	CHARGE association	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 219057457.	NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu) GRCh37: Chr8:61778332 GRCh38: Chr8:60865773	CHD7	G2945E, G896E	CHARGE association	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 219055058.	NM_012431.3(SEMA3E):c.456+11T>A GRCh37: Chr7:83095787 GRCh38: Chr7:83466471	SEMA3E		CHARGE association	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 219019459.	NM_017780.4(CHD7):c.854T>C (p.Val285Ala) GRCh37: Chr8:61654845 GRCh38: Chr8:60742286	CHD7	V285A	CHARGE association	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 218958560.	NM_012431.3(SEMA3E):c.1062C>T (p.Asn354_Gly355=) GRCh37: Chr7:83032029 GRCh38: Chr7:83402713	SEMA3E		CHARGE association	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 218940961.	NM_017780.4(CHD7):c.7743G>A (p.Val2581_Gly2582=) GRCh37: Chr8:61773597 GRCh38: Chr8:60861038	CHD7		CHARGE association	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 218923162.	NM_012431.3(SEMA3E):c.551-14A>G GRCh37: Chr7:83037817 GRCh38: Chr7:83408501	SEMA3E		CHARGE association	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 218843263.	NM_017780.4(CHD7):c.5405-6G>A GRCh37: Chr8:61763046 GRCh38: Chr8:60850487	CHD7		CHARGE association	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 218757864.	NM_017780.4(CHD7):c.1708A>G (p.Met570Val) GRCh37: Chr8:61693601 GRCh38: Chr8:60781042	CHD7	M570V	CHARGE association	Benign (Jun 8, 2022)	criteria provided, single submitter
Select item 218705665.	NM_017780.4(CHD7):c.7855T>C (p.Ser2619Pro) GRCh37: Chr8:61774779 GRCh38: Chr8:60862220	CHD7	S2619P	CHARGE association	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 218620066.	NM_012431.3(SEMA3E):c.30G>A (p.Leu10_Leu11=) GRCh37: Chr7:83277829 GRCh38: Chr7:83648513	SEMA3E		CHARGE association	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 218598667.	NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys) GRCh37: Chr8:61693772 GRCh38: Chr8:60781213	CHD7	Q627K	CHARGE association	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 218551868.	NM_017780.4(CHD7):c.8228C>G (p.Pro2743Arg) GRCh37: Chr8:61777726 GRCh38: Chr8:60865167	CHD7	P694R, P2743R	CHARGE association	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 218404169.	NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn) GRCh37: Chr8:61693902 GRCh38: Chr8:60781343	CHD7	T670N	CHARGE association	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 218168270.	NM_017780.4(CHD7):c.1717G>T (p.Val573Phe) GRCh37: Chr8:61693610 GRCh38: Chr8:60781051	CHD7	V573F	CHARGE association	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 218108271.	NM_017780.4(CHD7):c.756G>T (p.Ser252_Val253=) GRCh37: Chr8:61654747 GRCh38: Chr8:60742188	CHD7		CHARGE association	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 218099872.	NM_017780.4(CHD7):c.6514G>A (p.Glu2172Lys) GRCh37: Chr8:61765798 GRCh38: Chr8:60853239	CHD7	E2172K	CHARGE association	Benign (May 8, 2022)	criteria provided, single submitter
Select item 218053373.	NM_012431.3(SEMA3E):c.1727A>C (p.Gln576Pro) GRCh37: Chr7:83016307 GRCh38: Chr7:83386991	SEMA3E	Q576P, Q516P	CHARGE association	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 217996874.	NM_017780.4(CHD7):c.1721G>A (p.Ser574Asn) GRCh37: Chr8:61693614 GRCh38: Chr8:60781055	CHD7	S574N	CHARGE association	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 217906375.	NM_017780.4(CHD7):c.4317A>G (p.Leu1439_Gln1440=) GRCh37: Chr8:61750358 GRCh38: Chr8:60837799	CHD7		CHARGE association	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 217898776.	NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser) GRCh37: Chr8:61763094 GRCh38: Chr8:60850535	CHD7	C1816S	CHARGE association	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 217882277.	NM_017780.4(CHD7):c.6283C>T (p.Arg2095Trp) GRCh37: Chr8:61765567 GRCh38: Chr8:60853008	CHD7	R2095W	CHARGE association	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 217836978.	NM_017780.4(CHD7):c.8571T>C (p.Ser2857_Glu2858=) GRCh37: Chr8:61778069 GRCh38: Chr8:60865510	CHD7		CHARGE association	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 217831679.	NM_017780.4(CHD7):c.2951A>G (p.Tyr984Cys) GRCh37: Chr8:61734698 GRCh38: Chr8:60822139	CHD7	Y984C	CHARGE association	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 217788980.	NM_017780.4(CHD7):c.907A>G (p.Thr303Ala) GRCh37: Chr8:61654898 GRCh38: Chr8:60742339	CHD7	T303A	CHARGE association	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 217741481.	NM_012431.3(SEMA3E):c.1667+8G>A GRCh37: Chr7:83021863 GRCh38: Chr7:83392547	SEMA3E		CHARGE association	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 217713982.	NM_017780.4(CHD7):c.1861C>T (p.Pro621Ser) GRCh37: Chr8:61693754 GRCh38: Chr8:60781195	CHD7	P621S	CHARGE association	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 217611983.	NM_017780.4(CHD7):c.6865A>G (p.Met2289Val) GRCh37: Chr8:61767011 GRCh38: Chr8:60854452	CHD7	M2289V	CHARGE association	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 217602284.	NM_017780.4(CHD7):c.5895-18A>G GRCh37: Chr8:61765039 GRCh38: Chr8:60852480	CHD7		CHARGE association	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 217483385.	NM_017780.4(CHD7):c.557T>C (p.Met186Thr) GRCh37: Chr8:61654548 GRCh38: Chr8:60741989	CHD7	M186T	CHARGE association	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 217447786.	NM_012431.3(SEMA3E):c.758T>C (p.Leu253Pro) GRCh37: Chr7:83036468 GRCh38: Chr7:83407152	SEMA3E	L193P, L253P	CHARGE association	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 217443987.	NM_017780.4(CHD7):c.5816G>C (p.Arg1939Pro) GRCh37: Chr8:61764728 GRCh38: Chr8:60852169	CHD7	R1939P	CHARGE association	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 217392188.	NM_017780.4(CHD7):c.2252G>A (p.Ser751Asn) GRCh37: Chr8:61712960 GRCh38: Chr8:60800401	CHD7	S751N	CHARGE association	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 217389389.	NM_017780.4(CHD7):c.3378+14T>C GRCh37: Chr8:61736589 GRCh38: Chr8:60824030	CHD7		CHARGE association	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 217252490.	NM_017780.4(CHD7):c.6780A>G (p.Gly2260_Ala2261=) GRCh37: Chr8:61766926 GRCh38: Chr8:60854367	CHD7		CHARGE association	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 217236691.	NM_017780.4(CHD7):c.3206G>C (p.Arg1069Pro) GRCh37: Chr8:61736403 GRCh38: Chr8:60823844	CHD7	R1069P	CHARGE association	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 217192292.	NM_017780.4(CHD7):c.967G>A (p.Val323Ile) GRCh37: Chr8:61654958 GRCh38: Chr8:60742399	CHD7	V323I	CHARGE association	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 217187293.	NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe) GRCh37: Chr8:61655108 GRCh38: Chr8:60742549	CHD7	L373F	CHARGE association	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 217186494.	NM_017780.4(CHD7):c.8093C>T (p.Ser2698Leu) GRCh37: Chr8:61777591 GRCh38: Chr8:60865032	CHD7	S649L, S2698L	CHARGE association	Benign (Sep 12, 2022)	criteria provided, single submitter
Select item 217178495.	NM_017780.4(CHD7):c.5211-19C>G GRCh37: Chr8:61761055 GRCh38: Chr8:60848496	CHD7		CHARGE association	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 217142296.	NM_017780.4(CHD7):c.7062G>A (p.Val2354_Asp2355=) GRCh37: Chr8:61768659 GRCh38: Chr8:60856100	CHD7		CHARGE association	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 217060597.	NM_017780.4(CHD7):c.5568A>G (p.Glu1856_Tyr1857=) GRCh37: Chr8:61763624 GRCh38: Chr8:60851065	CHD7		CHARGE association	Benign (Jun 17, 2022)	criteria provided, single submitter
Select item 217025798.	NM_017780.4(CHD7):c.3174G>T (p.Leu1058Phe) GRCh37: Chr8:61735278 GRCh38: Chr8:60822719	CHD7	L1058F	CHARGE association	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 216982399.	NM_017780.4(CHD7):c.1543C>G (p.Pro515Ala) GRCh37: Chr8:61655534 GRCh38: Chr8:60742975	CHD7	P515A	CHARGE association	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 2169630100.	NM_012431.3(SEMA3E):c.928+10T>C GRCh37: Chr7:83035251 GRCh38: Chr7:83405935	SEMA3E		CHARGE association	Likely benign (Apr 13, 2022)	criteria provided, single submitter

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