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 26379121.	NM_017780.4(CHD7):c.5894+1G>T GRCh37: Chr8:61764807 GRCh38: Chr8:60852248	CHD7		CHARGE association	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 26275532.	NM_017780.4(CHD7):c.3523-19A>T GRCh37: Chr8:61742862 GRCh38: Chr8:60830303	CHD7		CHARGE association	Likely pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 25844343.	NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer) GRCh37: Chr8:61761104 GRCh38: Chr8:60848545	CHD7		CHARGE association	Pathogenic	criteria provided, single submitter
Select item 25844084.	NM_017780.4(CHD7):c.3166del (p.Ile1056fs) GRCh37: Chr8:61735270 GRCh38: Chr8:60822711	CHD7	I1056fs	CHARGE association	Pathogenic	criteria provided, single submitter
Select item 25843665.	NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs) GRCh37: Chr8:61773653-61773654 GRCh38: Chr8:60861094-60861095	CHD7	Y2601fs	CHARGE association	Likely pathogenic (Sep 13, 2023)	criteria provided, single submitter
Select item 25826496.	NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr) GRCh37: Chr8:61757500 GRCh38: Chr8:60844941	CHD7	C1643Y	CHARGE association	Likely pathogenic (Apr 23, 2023)	criteria provided, single submitter
Select item 25826187.	NM_017780.4(CHD7):c.6936+2T>C GRCh37: Chr8:61767084 GRCh38: Chr8:60854525	CHD7		CHARGE association	Pathogenic (May 16, 2023)	criteria provided, single submitter
Select item 25825358.	NM_017780.4(CHD7):c.6186dup (p.Lys2063fs) GRCh37: Chr8:61765468-61765469 GRCh38: Chr8:60852909-60852910	CHD7	K2063fs	CHARGE association	Likely pathogenic (Apr 28, 2023)	criteria provided, single submitter
Select item 25824589.	NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs) GRCh37: Chr8:61736561-61736562 GRCh38: Chr8:60824002-60824003	CHD7	K1122fs	CHARGE association	Pathogenic (Apr 6, 2023)	criteria provided, single submitter
Select item 258242910.	NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val) GRCh37: Chr8:61768559 GRCh38: Chr8:60856000	CHD7	D2321V	CHARGE association	Uncertain significance (May 12, 2023)	criteria provided, single submitter
Select item 258238311.	NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs) GRCh37: Chr8:61757512-61757516 GRCh38: Chr8:60844953-60844957	CHD7	L1647fs	CHARGE association	Pathogenic (May 14, 2023)	criteria provided, single submitter
Select item 258034312.	GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1 GRCh37: Chr8:61121294-63502403	ASPH, CA8, CHD7, CLVS1, NKAIN3, RAB2A		CHARGE association	Pathogenic (Feb 14, 2023)	criteria provided, single submitter
Select item 257913313.	NM_017780.4(CHD7):c.2544del (p.Asp849fs) GRCh37: Chr8:61728987 GRCh38: Chr8:60816428	CHD7	D849fs	CHARGE association	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 257852814.	NM_017780.4(CHD7):c.1697del (p.Pro566fs) GRCh37: Chr8:61693589 GRCh38: Chr8:60781030	CHD7, LOC126860403	P566fs	CHARGE association	Pathogenic (Aug 2, 2023)	criteria provided, single submitter
Select item 257753015.	NM_017780.4(CHD7):c.4644+5G>C GRCh37: Chr8:61754318 GRCh38: Chr8:60841759	CHD7		CHARGE association	Likely pathogenic (Aug 29, 2023)	criteria provided, single submitter
Select item 250647316.	NM_017780.4(CHD7):c.5782C>T (p.Gln1928Ter) GRCh37: Chr8:61764694 GRCh38: Chr8:60852135	CHD7	Q1928*	CHARGE association	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 250600817.	NM_017780.4(CHD7):c.619C>T (p.Gln207Ter) GRCh37: Chr8:61654610 GRCh38: Chr8:60742051	CHD7	Q207*	CHARGE association	Pathogenic (Jun 17, 2023)	criteria provided, single submitter
Select item 250556618.	NM_017780.4(CHD7):c.3937T>C (p.Ser1313Pro) GRCh37: Chr8:61748790 GRCh38: Chr8:60836231	CHD7	S1313P	CHARGE association	Likely pathogenic	criteria provided, single submitter
Select item 250517919.	NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs) GRCh37: Chr8:61736464-61736467 GRCh38: Chr8:60823905-60823908	CHD7	D1090fs	CHARGE association	Likely pathogenic (Feb 19, 2023)	criteria provided, single submitter
Select item 250460320.	NM_017780.4(CHD7):c.3642G>T (p.Gln1214His) GRCh37: Chr8:61743000 GRCh38: Chr8:60830441	CHD7	Q1214H	CHARGE association	Likely pathogenic (Jun 12, 2023)	criteria provided, single submitter
Select item 250230421.	NM_017780.4(CHD7):c.2333C>G (p.Ala778Gly) GRCh37: Chr8:61713041 GRCh38: Chr8:60800482	CHD7	A778G	CHARGE association	Uncertain significance	criteria provided, single submitter
Select item 250092222.	NM_017780.4(CHD7):c.3431del (p.Leu1144fs) GRCh37: Chr8:61741274 GRCh38: Chr8:60828715	CHD7	L1144fs	CHARGE association	Pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 250080623.	NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs) GRCh37: Chr8:61778102-61778103 GRCh38: Chr8:60865543-60865544	CHD7	S2869fs, S820fs	CHARGE association	Pathogenic (May 3, 2023)	criteria provided, single submitter
Select item 250076224.	NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs) GRCh37: Chr8:61773565-61773572 GRCh38: Chr8:60861006-60861013	CHD7	V2571fs	CHARGE association	Pathogenic	criteria provided, single submitter
Select item 250073025.	NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser) GRCh37: Chr8:61765655 GRCh38: Chr8:60853096	CHD7	F2124S	CHARGE association	Likely pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 249821026.	NM_017780.4(CHD7):c.3757_3778+7del GRCh37: Chr8:61743113-61743141 GRCh38: Chr8:60830554-60830582	CHD7		CHARGE association	Likely pathogenic	criteria provided, single submitter
Select item 244639727.	NM_017780.4(CHD7):c.5480del (p.Lys1827fs) GRCh37: Chr8:61763126 GRCh38: Chr8:60850567	CHD7	K1827fs	CHARGE association	Likely pathogenic	criteria provided, single submitter
Select item 244564628.	NC_000011.10:g.61969097_61969098insGA GRCh37: Chr11:61736569-61736570 GRCh38: Chr11:61969097-61969098			CHARGE association	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 244422329.	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 244417130.	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 244412231.	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 244405932.	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 244299933.	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 244208334.	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 244192035.	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 244188436.	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 243138937.	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 242580938.	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 242580839.	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 242580740.	NC_000007.13:g.(?_81331897)_(84751207_?)dup GRCh37: Chr7:81331897-84751207	CACNA2D1, HGF, PCLO, SEMA3A, SEMA3D, SEMA3E		CHARGE association	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 242580641.	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 242190842.	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 242127643.	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 242103444.	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 242103245.	NM_017780.4(CHD7):c.1095G>C (p.Gln365His) GRCh37: Chr8:61655086 GRCh38: Chr8:60742527	CHD7	Q365H	CHARGE association, Inborn genetic diseases	Benign/Likely benign (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 242002846.	NM_017780.4(CHD7):c.4476A>G (p.Leu1492=) GRCh37: Chr8:61750757 GRCh38: Chr8:60838198	CHD7		CHARGE association	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 242002747.	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 242001448.	NM_017780.4(CHD7):c.4473C>T (p.Leu1491=) GRCh37: Chr8:61750754 GRCh38: Chr8:60838195	CHD7		CHARGE association	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 241889749.	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 241836650.	NM_017780.4(CHD7):c.7692C>T (p.Asp2564=) GRCh37: Chr8:61773546 GRCh38: Chr8:60860987	CHD7		CHARGE association	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 241825851.	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 241792252.	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 241760153.	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 241719654.	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 241608655.	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 241539956.	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 241504357.	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 220280558.	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 220232559.	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 220173560.	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 220143061.	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 220081062.	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 219997663.	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 219896764.	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 219852265.	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 219801266.	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 219754567.	NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys) GRCh37: Chr8:61693733 GRCh38: Chr8:60781174	CHD7, LOC126860403	G614C	CHARGE association	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 219750868.	NM_017780.4(CHD7):c.8307G>A (p.Leu2769=) GRCh37: Chr8:61777805 GRCh38: Chr8:60865246	CHD7		CHARGE association	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 219737269.	NM_017780.4(CHD7):c.1509T>C (p.Gly503=) GRCh37: Chr8:61655500 GRCh38: Chr8:60742941	CHD7		CHARGE association	Benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219640070.	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 219611571.	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 219609172.	NM_017780.4(CHD7):c.4605T>C (p.Ala1535=) GRCh37: Chr8:61754274 GRCh38: Chr8:60841715	CHD7		CHARGE association	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 219587373.	NM_017780.4(CHD7):c.6285G>T (p.Arg2095=) GRCh37: Chr8:61765569 GRCh38: Chr8:60853010	CHD7		CHARGE association	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219567274.	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 219564675.	NM_012431.3(SEMA3E):c.102C>T (p.Arg34=) GRCh37: Chr7:83277757 GRCh38: Chr7:83648441	SEMA3E		CHARGE association	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 219539776.	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 219538777.	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 219537478.	NM_017780.4(CHD7):c.1812C>T (p.Asn604=) GRCh37: Chr8:61693705 GRCh38: Chr8:60781146	CHD7, LOC126860403		CHARGE association	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 219507179.	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 219430380.	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 219399381.	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 219366982.	NM_012431.3(SEMA3E):c.807C>T (p.Leu269=) GRCh37: Chr7:83036419 GRCh38: Chr7:83407103	SEMA3E		CHARGE association	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 219262183.	NM_017780.4(CHD7):c.8142G>A (p.Ala2714=) GRCh37: Chr8:61777640 GRCh38: Chr8:60865081	CHD7		CHARGE association	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 219088184.	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 219057485.	NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu) GRCh37: Chr8:61778332 GRCh38: Chr8:60865773	CHD7	G2945E, G896E	CHARGE association, CHD7-related condition	Uncertain significance (Feb 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219055086.	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 219019487.	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 218958588.	NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=) GRCh37: Chr7:83032029 GRCh38: Chr7:83402713	SEMA3E		CHARGE association	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 218940989.	NM_017780.4(CHD7):c.7743G>A (p.Val2581=) GRCh37: Chr8:61773597 GRCh38: Chr8:60861038	CHD7		CHARGE association	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 218923190.	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 218843291.	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 218757892.	NM_017780.4(CHD7):c.1708A>G (p.Met570Val) GRCh37: Chr8:61693601 GRCh38: Chr8:60781042	CHD7, LOC126860403	M570V	CHARGE association	Benign (Jun 8, 2022)	criteria provided, single submitter
Select item 218705693.	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 218620094.	NM_012431.3(SEMA3E):c.30G>A (p.Leu10=) GRCh37: Chr7:83277829 GRCh38: Chr7:83648513	SEMA3E		CHARGE association	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 218598695.	NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys) GRCh37: Chr8:61693772 GRCh38: Chr8:60781213	CHD7, LOC126860403	Q627K	CHARGE association	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 218551896.	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 218404197.	NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn) GRCh37: Chr8:61693902 GRCh38: Chr8:60781343	CHD7, LOC126860403	T670N	CHARGE association	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 218168298.	NM_017780.4(CHD7):c.1717G>T (p.Val573Phe) GRCh37: Chr8:61693610 GRCh38: Chr8:60781051	LOC126860403, CHD7	V573F	CHARGE association	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 218108299.	NM_017780.4(CHD7):c.756G>T (p.Ser252=) GRCh37: Chr8:61654747 GRCh38: Chr8:60742188	CHD7		CHARGE association	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 2180998100.	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

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