ClinVar for MedGen (Select 346808) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24443931.	NM_014336.5(AIPL1):c.623T>C (p.Leu208Pro) GRCh37: Chr17:6330220 GRCh38: Chr17:6426900	AIPL1	L145P, L148P, L169P, L186P, L196P, L200P, L208P	Leber congenital amaurosis 4	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24440962.	NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu) GRCh37: Chr17:6338385 GRCh38: Chr17:6435065	AIPL1	K14E	Leber congenital amaurosis 4	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24389473.	NM_014336.5(AIPL1):c.575G>T (p.Gly192Val) GRCh37: Chr17:6330268 GRCh38: Chr17:6426948	AIPL1	G129V, G132V, G153V, G170V, G180V, G184V, G192V	Leber congenital amaurosis 4	Uncertain significance (Jun 13, 2019)	criteria provided, single submitter
Select item 24259454.	NC_000017.10:g.(?_6328780)_(6428803_?)dup GRCh37: Chr17:6328780-6428803	AIPL1, PIMREG, PITPNM3		not provided	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 24259445.	NC_000017.10:g.(?_6331618)_(6338424_?)del GRCh37: Chr17:6331618-6338424	AIPL1		Leber congenital amaurosis 4	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 22024726.	NM_014336.5(AIPL1):c.519G>C (p.Glu173Asp) GRCh37: Chr17:6330324 GRCh38: Chr17:6427004	AIPL1	E151D, E161D, E173D, E134D, E165D, E110D, E113D	Leber congenital amaurosis 4	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 21929817.	NM_014336.5(AIPL1):c.643-4G>A GRCh37: Chr17:6330080 GRCh38: Chr17:6426760	AIPL1		Leber congenital amaurosis 4	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 21923678.	NM_014336.5(AIPL1):c.381C>T (p.Phe127=) GRCh37: Chr17:6331722 GRCh38: Chr17:6428402	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 21812019.	NM_014336.5(AIPL1):c.255C>T (p.Ala85=) GRCh37: Chr17:6337260 GRCh38: Chr17:6433940	AIPL1		Leber congenital amaurosis 4	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 218114110.	NM_014336.5(AIPL1):c.1129T>A (p.Ser377Thr) GRCh37: Chr17:6328806 GRCh38: Chr17:6425486	AIPL1	S338T, S377T, S317T, S353T, S365T, S314T, S355T	Leber congenital amaurosis 4	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 217882711.	NM_014336.5(AIPL1):c.868G>C (p.Val290Leu) GRCh37: Chr17:6329067 GRCh38: Chr17:6425747	AIPL1	V268L, V290L, V227L, V230L, V251L, V266L, V278L	Leber congenital amaurosis 4, Inborn genetic diseases	Uncertain significance (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217866812.	NM_014336.5(AIPL1):c.636G>C (p.Gln212His) GRCh37: Chr17:6330207 GRCh38: Chr17:6426887	AIPL1	Q173H, Q212H, Q200H, Q152H, Q190H, Q204H, Q149H	Leber congenital amaurosis 4	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 217716813.	NM_014336.5(AIPL1):c.465+4G>A GRCh37: Chr17:6331634 GRCh38: Chr17:6428314	AIPL1		Leber congenital amaurosis 4	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 216507814.	NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr) GRCh37: Chr17:6328845 GRCh38: Chr17:6425525	AIPL1	A301T, A340T, A342T, A325T, A304T, A352T, A364T	Leber congenital amaurosis 4	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 216489315.	NM_014336.5(AIPL1):c.917G>A (p.Arg306Lys) GRCh37: Chr17:6329018 GRCh38: Chr17:6425698	AIPL1	R267K, R284K, R246K, R294K, R243K, R282K, R306K	Leber congenital amaurosis 4	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 215950716.	NM_014336.5(AIPL1):c.297C>G (p.Ile99Met) GRCh37: Chr17:6331806 GRCh38: Chr17:6428486	AIPL1	I60M, I39M, I77M, I87M, I99M	Leber congenital amaurosis 4	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 215653917.	NM_014336.5(AIPL1):c.537C>T (p.Pro179=) GRCh37: Chr17:6330306 GRCh38: Chr17:6426986	AIPL1		Leber congenital amaurosis 4	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 215611918.	NM_014336.5(AIPL1):c.772C>T (p.Arg258Trp) GRCh37: Chr17:6329947 GRCh38: Chr17:6426627	AIPL1	R236W, R258W, R219W, R246W, R234W, R195W, R198W, R250W	Leber congenital amaurosis 4	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 215443619.	NM_014336.5(AIPL1):c.282G>A (p.Thr94=) GRCh37: Chr17:6331821 GRCh38: Chr17:6428501	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 215227120.	NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg) GRCh37: Chr17:6331739 GRCh38: Chr17:6428419	AIPL1	G110R, G122R, G83R, G100R, G62R	Leber congenital amaurosis 4	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 214861221.	NM_014336.5(AIPL1):c.23A>G (p.Asn8Ser) GRCh37: Chr17:6338402 GRCh38: Chr17:6435082	AIPL1	N8S	Leber congenital amaurosis 4	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 214455022.	NM_014336.5(AIPL1):c.150C>T (p.Asp50=) GRCh37: Chr17:6337365 GRCh38: Chr17:6434045	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 214396323.	NM_014336.5(AIPL1):c.241G>A (p.Val81Met) GRCh37: Chr17:6337274 GRCh38: Chr17:6433954	AIPL1	V42M, V59M, V81M, V69M	Leber congenital amaurosis 4	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 213570324.	NM_014336.5(AIPL1):c.129T>C (p.Asp43=) GRCh37: Chr17:6337386 GRCh38: Chr17:6434066	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 213155525.	NM_014336.5(AIPL1):c.917G>C (p.Arg306Thr) GRCh37: Chr17:6329018 GRCh38: Chr17:6425698	AIPL1	R284T, R282T, R246T, R267T, R306T, R243T, R294T	Leber congenital amaurosis 4	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 211855126.	NM_014336.5(AIPL1):c.714G>C (p.Gln238His) GRCh37: Chr17:6330005 GRCh38: Chr17:6426685	AIPL1	Q178H, Q199H, Q175H, Q230H, Q226H, Q238H, Q216H	Leber congenital amaurosis 4	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 210230727.	NM_014336.5(AIPL1):c.459G>A (p.Leu153=) GRCh37: Chr17:6331644 GRCh38: Chr17:6428324	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 209097628.	NM_014336.5(AIPL1):c.1004C>T (p.Pro335Leu) GRCh37: Chr17:6328931 GRCh38: Chr17:6425611	AIPL1	P335L, P313L, P272L, P275L, P296L, P311L, P323L	Leber congenital amaurosis 4	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 208740629.	NM_014336.5(AIPL1):c.476C>G (p.Pro159Arg) GRCh37: Chr17:6330367 GRCh38: Chr17:6427047	AIPL1	P96R, P99R, P137R, P159R, P120R, P147R	Leber congenital amaurosis 4	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 208547830.	NM_014336.5(AIPL1):c.1024C>T (p.Pro342Ser) GRCh37: Chr17:6328911 GRCh38: Chr17:6425591	AIPL1	P320S, P342S, P279S, P303S, P318S, P282S, P330S	not provided, Leber congenital amaurosis 4	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208246631.	NM_014336.5(AIPL1):c.95G>A (p.Arg32Gln) GRCh37: Chr17:6338330 GRCh38: Chr17:6435010	AIPL1	R32Q	Leber congenital amaurosis 4	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 207808932.	NM_014336.5(AIPL1):c.642+3C>T GRCh37: Chr17:6330198 GRCh38: Chr17:6426878	AIPL1		Leber congenital amaurosis 4	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 206814333.	NM_014336.5(AIPL1):c.1005C>T (p.Pro335=) GRCh37: Chr17:6328930 GRCh38: Chr17:6425610	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 206683834.	NM_014336.5(AIPL1):c.276+7dup GRCh37: Chr17:6337231-6337232 GRCh38: Chr17:6433911-6433912	AIPL1		Leber congenital amaurosis 4	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 206505935.	NM_014336.5(AIPL1):c.784+20C>A GRCh37: Chr17:6329915 GRCh38: Chr17:6426595	AIPL1		Leber congenital amaurosis 4	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 206287236.	NM_014336.5(AIPL1):c.268G>A (p.Asp90Asn) GRCh37: Chr17:6337247 GRCh38: Chr17:6433927	AIPL1	D68N, D78N, D51N, D90N	Leber congenital amaurosis 4	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 206161137.	NM_014336.5(AIPL1):c.805G>T (p.Val269Leu) GRCh37: Chr17:6329130 GRCh38: Chr17:6425810	AIPL1	V209L, V230L, V269L, V257L, V206L, V245L, V247L	Leber congenital amaurosis 4	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 206138938.	NM_014336.5(AIPL1):c.1135G>C (p.Gly379Arg) GRCh37: Chr17:6328800 GRCh38: Chr17:6425480	AIPL1	G316R, G319R, G355R, G367R, G379R, G357R, G340R	Inborn genetic diseases, Leber congenital amaurosis 4	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 205249339.	NM_014336.5(AIPL1):c.256G>A (p.Glu86Lys) GRCh37: Chr17:6337259 GRCh38: Chr17:6433939	AIPL1	E47K, E86K, E64K, E74K	Leber congenital amaurosis 4	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 204296840.	NM_014336.5(AIPL1):c.276+12C>G GRCh37: Chr17:6337227 GRCh38: Chr17:6433907	AIPL1		Leber congenital amaurosis 4	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 203193841.	NM_014336.5(AIPL1):c.97-1G>A GRCh37: Chr17:6337419 GRCh38: Chr17:6434099	AIPL1		Leber congenital amaurosis 4	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 203108742.	NM_014336.5(AIPL1):c.357C>T (p.His119=) GRCh37: Chr17:6331746 GRCh38: Chr17:6428426	AIPL1		Leber congenital amaurosis 4	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 202486843.	NM_014336.5(AIPL1):c.2T>C (p.Met1Thr) GRCh37: Chr17:6338423 GRCh38: Chr17:6435103	AIPL1	M1T	Leber congenital amaurosis 4	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 202182044.	NM_014336.5(AIPL1):c.465+20G>C GRCh37: Chr17:6331618 GRCh38: Chr17:6428298	AIPL1		Leber congenital amaurosis 4	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 202113945.	NM_014336.5(AIPL1):c.97-18C>T GRCh37: Chr17:6337436 GRCh38: Chr17:6434116	AIPL1		Leber congenital amaurosis 4	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 201949646.	NM_014336.5(AIPL1):c.219G>A (p.Glu73=) GRCh37: Chr17:6337296 GRCh38: Chr17:6433976	AIPL1		Leber congenital amaurosis 4	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 201936647.	NM_014336.5(AIPL1):c.642+8G>T GRCh37: Chr17:6330193 GRCh38: Chr17:6426873	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 201758848.	NM_014336.5(AIPL1):c.717C>T (p.Cys239=) GRCh37: Chr17:6330002 GRCh38: Chr17:6426682	AIPL1		Leber congenital amaurosis 4	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 201474949.	NM_014336.5(AIPL1):c.1080A>C (p.Ala360=) GRCh37: Chr17:6328855 GRCh38: Chr17:6425535	AIPL1		Leber congenital amaurosis 4	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201301850.	NM_014336.5(AIPL1):c.778dup (p.His260fs) GRCh37: Chr17:6329940-6329941 GRCh38: Chr17:6426620-6426621	AIPL1	H260fs, H197fs, H252fs, H248fs, H200fs, H221fs, H236fs, H238fs	Leber congenital amaurosis 4	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 201099751.	NM_014336.5(AIPL1):c.1081G>C (p.Glu361Gln) GRCh37: Chr17:6328854 GRCh38: Chr17:6425534	AIPL1	E349Q, E298Q, E322Q, E337Q, E339Q, E361Q, E301Q	AIPL1-related condition, Leber congenital amaurosis 4	Uncertain significance (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 200223652.	NM_014336.5(AIPL1):c.1084C>T (p.Leu362=) GRCh37: Chr17:6328851 GRCh38: Chr17:6425531	AIPL1		Leber congenital amaurosis 4	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 200149753.	NM_014336.5(AIPL1):c.20T>G (p.Leu7Arg) GRCh37: Chr17:6338405 GRCh38: Chr17:6435085	AIPL1	L7R	Leber congenital amaurosis 4	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 198974954.	NM_014336.5(AIPL1):c.147T>C (p.Ile49=) GRCh37: Chr17:6337368 GRCh38: Chr17:6434048	AIPL1		Leber congenital amaurosis 4	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 198735055.	NM_014336.5(AIPL1):c.642+19G>A GRCh37: Chr17:6330182 GRCh38: Chr17:6426862	AIPL1		Leber congenital amaurosis 4	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 198410656.	NM_014336.5(AIPL1):c.55G>C (p.Gly19Arg) GRCh37: Chr17:6338370 GRCh38: Chr17:6435050	AIPL1	G19R	Leber congenital amaurosis 4	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 197877057.	NM_014336.5(AIPL1):c.246C>A (p.His82Gln) GRCh37: Chr17:6337269 GRCh38: Chr17:6433949	AIPL1	H60Q, H82Q, H43Q, H70Q	Leber congenital amaurosis 4	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 197865058.	NM_014336.5(AIPL1):c.1006_1017del (p.Ala336_Pro339del) GRCh37: Chr17:6328918-6328929 GRCh38: Chr17:6425598-6425609	AIPL1		Leber congenital amaurosis 4	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 197581859.	NM_014336.5(AIPL1):c.643-16C>G GRCh37: Chr17:6330092 GRCh38: Chr17:6426772	AIPL1		Leber congenital amaurosis 4	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 197539460.	NM_014336.5(AIPL1):c.804C>T (p.Tyr268=) GRCh37: Chr17:6329131 GRCh38: Chr17:6425811	AIPL1		Leber congenital amaurosis 4	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 197383661.	NM_014336.5(AIPL1):c.136C>T (p.Arg46Trp) GRCh37: Chr17:6337379 GRCh38: Chr17:6434059	AIPL1	R34W, R46W, R7W	Leber congenital amaurosis 4	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 197265462.	NM_014336.5(AIPL1):c.277-6C>T GRCh37: Chr17:6331832 GRCh38: Chr17:6428512	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 196546563.	NM_014336.5(AIPL1):c.642+20G>A GRCh37: Chr17:6330181 GRCh38: Chr17:6426861	AIPL1		Leber congenital amaurosis 4	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 196065664.	NM_014336.5(AIPL1):c.67G>A (p.Glu23Lys) GRCh37: Chr17:6338358 GRCh38: Chr17:6435038	AIPL1	E23K	Leber congenital amaurosis 4	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 195130465.	NM_014336.5(AIPL1):c.119T>C (p.Met40Thr) GRCh37: Chr17:6337396 GRCh38: Chr17:6434076	AIPL1	M1T, M40T	Leber congenital amaurosis 4	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 194226266.	NM_014336.5(AIPL1):c.785-14C>T GRCh37: Chr17:6329164 GRCh38: Chr17:6425844	AIPL1		Leber congenital amaurosis 4	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 194062267.	NM_014336.5(AIPL1):c.465+20G>T GRCh37: Chr17:6331618 GRCh38: Chr17:6428298	AIPL1		Leber congenital amaurosis 4	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 193985868.	NM_014336.5(AIPL1):c.1147C>T (p.Gln383Ter) GRCh37: Chr17:6328788 GRCh38: Chr17:6425468	AIPL1	Q323, Q320, Q361, Q383, Q344, Q359, Q371*	Leber congenital amaurosis 4	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 191663269.	NM_014336.5(AIPL1):c.1123C>A (p.Pro375Thr) GRCh37: Chr17:6328812 GRCh38: Chr17:6425492	AIPL1	P336T, P353T, P363T, P312T, P351T, P315T, P375T	Leber congenital amaurosis 4	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 190860670.	NM_014336.5(AIPL1):c.1128G>A (p.Pro376=) GRCh37: Chr17:6328807 GRCh38: Chr17:6425487	AIPL1		Leber congenital amaurosis 4	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 190474471.	NM_014336.5(AIPL1):c.996G>A (p.Thr332=) GRCh37: Chr17:6328939 GRCh38: Chr17:6425619	AIPL1		Leber congenital amaurosis 4	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 190433272.	NM_014336.5(AIPL1):c.465+16G>T GRCh37: Chr17:6331622 GRCh38: Chr17:6428302	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 190177673.	NM_014336.5(AIPL1):c.178_179delinsAC (p.His60Thr) GRCh37: Chr17:6337336-6337337 GRCh38: Chr17:6434016-6434017	AIPL1	H48T, H38T, H21T, H60T	Leber congenital amaurosis 4	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 189838374.	NM_014336.5(AIPL1):c.381C>A (p.Phe127Leu) GRCh37: Chr17:6331722 GRCh38: Chr17:6428402	AIPL1	F105L, F127L, F67L, F88L, F115L	Leber congenital amaurosis 4	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 189564675.	NM_014336.5(AIPL1):c.465+13T>A GRCh37: Chr17:6331625 GRCh38: Chr17:6428305	AIPL1		Leber congenital amaurosis 4	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 171707276.	NM_014336.5(AIPL1):c.406G>A (p.Asp136Asn) GRCh37: Chr17:6331697 GRCh38: Chr17:6428377	AIPL1	D114N, D124N, D136N, D76N, D97N	Leber congenital amaurosis 4	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 171360477.	NM_014336.5(AIPL1):c.937G>A (p.Ala313Thr) GRCh37: Chr17:6328998 GRCh38: Chr17:6425678	AIPL1	A250T, A253T, A274T, A289T, A291T, A301T, A313T	Leber congenital amaurosis 4	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 168729678.	NM_014336.5(AIPL1):c.814del (p.Arg272fs) GRCh37: Chr17:6329121 GRCh38: Chr17:6425801	AIPL1	R209fs, R212fs, R233fs, R248fs, R250fs, R260fs, R272fs	Leber congenital amaurosis 4	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 166320079.	NM_014336.5(AIPL1):c.660G>A (p.Val220=) GRCh37: Chr17:6330059 GRCh38: Chr17:6426739	AIPL1		Leber congenital amaurosis 4	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 166246180.	NM_014336.5(AIPL1):c.277-16C>T GRCh37: Chr17:6331842 GRCh38: Chr17:6428522	AIPL1		Leber congenital amaurosis 4	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 166075781.	NM_014336.5(AIPL1):c.240G>T (p.Arg80=) GRCh37: Chr17:6337275 GRCh38: Chr17:6433955	AIPL1		Leber congenital amaurosis 4	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 165958682.	NM_014336.5(AIPL1):c.600G>A (p.Lys200=) GRCh37: Chr17:6330243 GRCh38: Chr17:6426923	AIPL1		Leber congenital amaurosis 4	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 165810583.	NM_014336.5(AIPL1):c.276+12del GRCh37: Chr17:6337227 GRCh38: Chr17:6433907	AIPL1		Leber congenital amaurosis 4	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 164410584.	NM_014336.5(AIPL1):c.276+16_276+17delinsTT GRCh37: Chr17:6337222-6337223 GRCh38: Chr17:6433902-6433903	AIPL1		Leber congenital amaurosis 4	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 163945985.	NM_014336.5(AIPL1):c.819T>C (p.Ala273=) GRCh37: Chr17:6329116 GRCh38: Chr17:6425796	AIPL1		Leber congenital amaurosis 4	Likely benign (May 5, 2021)	criteria provided, single submitter
Select item 161557386.	NM_014336.5(AIPL1):c.1029C>T (p.Pro343=) GRCh37: Chr17:6328906 GRCh38: Chr17:6425586	AIPL1		Leber congenital amaurosis 4	Likely benign (Dec 10, 2021)	criteria provided, single submitter
Select item 161334587.	NM_014336.5(AIPL1):c.1074A>G (p.Pro358=) GRCh37: Chr17:6328861 GRCh38: Chr17:6425541	AIPL1		Leber congenital amaurosis 4	Likely benign (Nov 20, 2020)	criteria provided, single submitter
Select item 160653588.	NM_014336.5(AIPL1):c.96+17C>A GRCh37: Chr17:6338312 GRCh38: Chr17:6434992	AIPL1		Leber congenital amaurosis 4	Likely benign (Dec 19, 2020)	criteria provided, single submitter
Select item 160208089.	NM_014336.5(AIPL1):c.277-19C>T GRCh37: Chr17:6331845 GRCh38: Chr17:6428525	AIPL1		Leber congenital amaurosis 4	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 159067690.	NM_014336.5(AIPL1):c.276+16G>A GRCh37: Chr17:6337223 GRCh38: Chr17:6433903	AIPL1		Leber congenital amaurosis 4	Likely benign (Apr 28, 2021)	criteria provided, single submitter
Select item 157997891.	NM_014336.5(AIPL1):c.276+18G>A GRCh37: Chr17:6337221 GRCh38: Chr17:6433901	AIPL1		Leber congenital amaurosis 4	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 157909192.	NM_014336.5(AIPL1):c.189C>T (p.Ile63=) GRCh37: Chr17:6337326 GRCh38: Chr17:6434006	AIPL1		Leber congenital amaurosis 4	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 157417893.	NM_014336.5(AIPL1):c.141A>T (p.Thr47=) GRCh37: Chr17:6337374 GRCh38: Chr17:6434054	AIPL1		Leber congenital amaurosis 4	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 157405794.	NM_014336.5(AIPL1):c.543C>A (p.Leu181=) GRCh37: Chr17:6330300 GRCh38: Chr17:6426980	AIPL1		Leber congenital amaurosis 4	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 157163795.	NM_014336.5(AIPL1):c.961C>T (p.Leu321=) GRCh37: Chr17:6328974 GRCh38: Chr17:6425654	AIPL1		Leber congenital amaurosis 4	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 156862096.	NM_014336.5(AIPL1):c.96+13C>A GRCh37: Chr17:6338316 GRCh38: Chr17:6434996	AIPL1		Leber congenital amaurosis 4	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 154461497.	NM_014336.5(AIPL1):c.585G>A (p.Glu195=) GRCh37: Chr17:6330258 GRCh38: Chr17:6426938	AIPL1		Leber congenital amaurosis 4	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 154392198.	NM_014336.5(AIPL1):c.97-10C>T GRCh37: Chr17:6337428 GRCh38: Chr17:6434108	AIPL1		Leber congenital amaurosis 4	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 153033799.	NM_014336.5(AIPL1):c.97-14G>A GRCh37: Chr17:6337432 GRCh38: Chr17:6434112	AIPL1		Leber congenital amaurosis 4	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 1525112100.	NM_014336.5(AIPL1):c.254C>A (p.Ala85Asp) GRCh37: Chr17:6337261 GRCh38: Chr17:6433941	AIPL1	A73D, A63D, A85D, A46D	Leber congenital amaurosis 4	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter

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