ClinVar for MedGen (Select 325277) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24267771.	NC_000001.10:g.(?_10041069)_(10042759_?)del GRCh37: Chr1:10041069-10042759	NMNAT1		Leber congenital amaurosis 9	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 24267762.	NC_000001.10:g.(?_10027411)_(10045246_?)del GRCh37: Chr1:10027411-10045246	NMNAT1		Leber congenital amaurosis 9	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 24267753.	NC_000001.10:g.(?_10032132)_(10035853_?)del GRCh37: Chr1:10032132-10035853	NMNAT1		Leber congenital amaurosis 9	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 24267744.	NC_000001.10:g.(?_10032132)_(10032266_?)del GRCh37: Chr1:10032132-10032266	NMNAT1		Leber congenital amaurosis 9	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 22026975.	NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn) GRCh37: Chr1:10032190 GRCh38: Chr1:9972132	NMNAT1	I20N	Leber congenital amaurosis 9	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 22023166.	NM_022787.4(NMNAT1):c.57C>T (p.Pro19=) GRCh37: Chr1:10032188 GRCh38: Chr1:9972130	NMNAT1		Leber congenital amaurosis 9	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 21995757.	NM_022787.4(NMNAT1):c.115+1G>C GRCh37: Chr1:10032247 GRCh38: Chr1:9972189	NMNAT1		Leber congenital amaurosis 9	Likely pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 21911998.	NM_022787.4(NMNAT1):c.793dup (p.Val265fs) GRCh37: Chr1:10042708-10042709 GRCh38: Chr1:9982650-9982651	NMNAT1	V265fs	Leber congenital amaurosis 9	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 21645069.	NM_022787.4(NMNAT1):c.191A>G (p.Tyr64Cys) GRCh37: Chr1:10035725 GRCh38: Chr1:9975667	NMNAT1	Y64C	Leber congenital amaurosis 9	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 216148710.	NM_022787.4(NMNAT1):c.115+16A>G GRCh37: Chr1:10032262 GRCh38: Chr1:9972204	NMNAT1		Leber congenital amaurosis 9	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 214524511.	NM_022787.4(NMNAT1):c.38C>G (p.Ala13Gly) GRCh37: Chr1:10032169 GRCh38: Chr1:9972111	NMNAT1	A13G	Leber congenital amaurosis 9	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 213121912.	NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter) GRCh37: Chr1:10042567 GRCh38: Chr1:9982509	NMNAT1	W216*	Leber congenital amaurosis 9	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 211363913.	NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr) GRCh37: Chr1:10032190 GRCh38: Chr1:9972132	NMNAT1	I20T	Leber congenital amaurosis 9	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211327814.	NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp) GRCh37: Chr1:10035662 GRCh38: Chr1:9975604	NMNAT1	V43D	Leber congenital amaurosis 9	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 211282615.	NM_022787.4(NMNAT1):c.167A>G (p.Lys56Arg) GRCh37: Chr1:10035701 GRCh38: Chr1:9975643	NMNAT1	K56R	Leber congenital amaurosis 9	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 208195216.	NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter) GRCh37: Chr1:10035699 GRCh38: Chr1:9975641	NMNAT1	Y55*	Leber congenital amaurosis 9	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 207583717.	NM_022787.4(NMNAT1):c.768T>C (p.Ser256=) GRCh37: Chr1:10042687 GRCh38: Chr1:9982629	NMNAT1		Leber congenital amaurosis 9	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 201233918.	NM_022787.4(NMNAT1):c.691A>C (p.Arg231=) GRCh37: Chr1:10042610 GRCh38: Chr1:9982552	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 200731919.	NM_022787.4(NMNAT1):c.827A>T (p.Glu276Val) GRCh37: Chr1:10042746 GRCh38: Chr1:9982688	NMNAT1	E276V	Leber congenital amaurosis 9	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 199507020.	NM_022787.4(NMNAT1):c.91G>T (p.Ala31Ser) GRCh37: Chr1:10032222 GRCh38: Chr1:9972164	NMNAT1	A31S	Leber congenital amaurosis 9	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 195665121.	NM_022787.4(NMNAT1):c.606G>A (p.Val202=) GRCh37: Chr1:10042525 GRCh38: Chr1:9982467	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 194626422.	NM_022787.4(NMNAT1):c.115+14C>T GRCh37: Chr1:10032260 GRCh38: Chr1:9972202	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 193133923.	NM_022787.4(NMNAT1):c.455A>G (p.Lys152Arg) GRCh37: Chr1:10042374 GRCh38: Chr1:9982316	NMNAT1	K152R	Leber congenital amaurosis 9	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 192793924.	NM_022787.4(NMNAT1):c.383A>G (p.Lys128Arg) GRCh37: Chr1:10041172 GRCh38: Chr1:9981114	NMNAT1	K128R	Leber congenital amaurosis 9	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 189668225.	NM_022787.4(NMNAT1):c.543T>C (p.Tyr181=) GRCh37: Chr1:10042462 GRCh38: Chr1:9982404	NMNAT1		Leber congenital amaurosis 9	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 167263226.	NM_022787.4(NMNAT1):c.633C>T (p.His211=) GRCh37: Chr1:10042552 GRCh38: Chr1:9982494	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 165352727.	NM_022787.4(NMNAT1):c.88C>T (p.Leu30=) GRCh37: Chr1:10032219 GRCh38: Chr1:9972161	NMNAT1		Leber congenital amaurosis 9	Likely benign (Nov 18, 2020)	criteria provided, single submitter
Select item 164182728.	NM_022787.4(NMNAT1):c.116-11T>C GRCh37: Chr1:10035639 GRCh38: Chr1:9975581	NMNAT1		Leber congenital amaurosis 9	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 163735229.	NM_022787.4(NMNAT1):c.603T>C (p.Asp201=) GRCh37: Chr1:10042522 GRCh38: Chr1:9982464	NMNAT1		Leber congenital amaurosis 9	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 162760930.	NM_022787.4(NMNAT1):c.462G>A (p.Leu154=) GRCh37: Chr1:10042381 GRCh38: Chr1:9982323	NMNAT1		Leber congenital amaurosis 9	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 161560731.	NM_022787.4(NMNAT1):c.624C>T (p.Ser208=) GRCh37: Chr1:10042543 GRCh38: Chr1:9982485	NMNAT1		Leber congenital amaurosis 9	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 158189832.	NM_022787.4(NMNAT1):c.435A>G (p.Thr145=) GRCh37: Chr1:10041224 GRCh38: Chr1:9981166	NMNAT1		Leber congenital amaurosis 9	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 157268733.	NM_022787.4(NMNAT1):c.75C>A (p.Leu25=) GRCh37: Chr1:10032206 GRCh38: Chr1:9972148	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 156822134.	NM_022787.4(NMNAT1):c.299+19_299+21dup GRCh37: Chr1:10035851-10035852 GRCh38: Chr1:9975793-9975794	NMNAT1		Leber congenital amaurosis 9	Likely benign (Sep 2, 2021)	criteria provided, single submitter
Select item 156551735.	NM_022787.4(NMNAT1):c.300-4A>G GRCh37: Chr1:10041085 GRCh38: Chr1:9981027	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 156326936.	NM_022787.4(NMNAT1):c.108T>C (p.Asn36=) GRCh37: Chr1:10032239 GRCh38: Chr1:9972181	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 154090437.	NM_022787.4(NMNAT1):c.654T>C (p.Ala218=) GRCh37: Chr1:10042573 GRCh38: Chr1:9982515	NMNAT1		Leber congenital amaurosis 9	Likely benign (May 24, 2021)	criteria provided, single submitter
Select item 154056838.	NM_022787.4(NMNAT1):c.115+15C>T GRCh37: Chr1:10032261 GRCh38: Chr1:9972203	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 154009539.	NM_022787.4(NMNAT1):c.299+13T>G GRCh37: Chr1:10035846 GRCh38: Chr1:9975788	NMNAT1		Leber congenital amaurosis 9	Likely benign (Aug 28, 2021)	criteria provided, single submitter
Select item 153450340.	NM_022787.4(NMNAT1):c.300-10T>G GRCh37: Chr1:10041079 GRCh38: Chr1:9981021	NMNAT1		Leber congenital amaurosis 9	Likely benign (Aug 2, 2021)	criteria provided, single submitter
Select item 153321841.	NM_022787.4(NMNAT1):c.299+12G>T GRCh37: Chr1:10035845 GRCh38: Chr1:9975787	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 153175142.	NM_022787.4(NMNAT1):c.439+7A>G GRCh37: Chr1:10041235 GRCh38: Chr1:9981177	NMNAT1		Leber congenital amaurosis 9	Likely benign (Nov 13, 2021)	criteria provided, single submitter
Select item 151434543.	NM_022787.4(NMNAT1):c.563G>A (p.Arg188Gln) GRCh37: Chr1:10042482 GRCh38: Chr1:9982424	NMNAT1	R188Q	Leber congenital amaurosis 9	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 150357244.	NM_022787.4(NMNAT1):c.480G>C (p.Leu160Phe) GRCh37: Chr1:10042399 GRCh38: Chr1:9982341	NMNAT1	L160F	Leber congenital amaurosis 9	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 148676745.	NM_022787.4(NMNAT1):c.115+1G>A GRCh37: Chr1:10032247 GRCh38: Chr1:9972189	NMNAT1		Leber congenital amaurosis 9	Likely pathogenic (Oct 13, 2021)	criteria provided, single submitter
Select item 147955746.	NC_000001.10:g.(?_10003560)_(10035853_?)dup GRCh37: Chr1:10003560-10035853	NMNAT1		Leber congenital amaurosis 9	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 146500147.	NM_022787.4(NMNAT1):c.154G>C (p.Gly52Arg) GRCh37: Chr1:10035688 GRCh38: Chr1:9975630	NMNAT1	G52R	Leber congenital amaurosis 9	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 146314948.	NM_022787.4(NMNAT1):c.503T>G (p.Leu168Trp) GRCh37: Chr1:10042422 GRCh38: Chr1:9982364	NMNAT1	L168W	Leber congenital amaurosis 9	Uncertain significance (Jul 28, 2021)	criteria provided, single submitter
Select item 145943249.	NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter) GRCh37: Chr1:10035789 GRCh38: Chr1:9975731	NMNAT1	W85*	Leber congenital amaurosis 9	Pathogenic (Nov 3, 2021)	criteria provided, single submitter
Select item 145167050.	NC_000001.10:g.(?_10041069)_(10041248_?)del GRCh37: Chr1:10041069-10041248	NMNAT1		Leber congenital amaurosis 9	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 144974951.	NM_022787.4(NMNAT1):c.397C>A (p.Gln133Lys) GRCh37: Chr1:10041186 GRCh38: Chr1:9981128	NMNAT1	Q133K	Leber congenital amaurosis 9	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 144855652.	NC_000001.10:g.(?_10003560)_(10042759_?)dup GRCh37: Chr1:10003560-10042759	NMNAT1		Leber congenital amaurosis 9	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 144552853.	NM_022787.4(NMNAT1):c.491C>T (p.Ala164Val) GRCh37: Chr1:10042410 GRCh38: Chr1:9982352	NMNAT1	A164V	Leber congenital amaurosis 9	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 144009954.	NM_022787.4(NMNAT1):c.524C>T (p.Thr175Ile) GRCh37: Chr1:10042443 GRCh38: Chr1:9982385	NMNAT1	T175I	Leber congenital amaurosis 9	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 143772955.	NM_022787.4(NMNAT1):c.469del (p.Ala157fs) GRCh37: Chr1:10042385 GRCh38: Chr1:9982327	NMNAT1	A157fs	Leber congenital amaurosis 9	Pathogenic (Nov 4, 2021)	criteria provided, single submitter
Select item 143535956.	NM_022787.4(NMNAT1):c.116-2A>G GRCh37: Chr1:10035648 GRCh38: Chr1:9975590	NMNAT1		Leber congenital amaurosis 9	Pathogenic (Nov 1, 2021)	criteria provided, single submitter
Select item 143288057.	NM_022787.4(NMNAT1):c.520A>G (p.Ile174Val) GRCh37: Chr1:10042439 GRCh38: Chr1:9982381	NMNAT1	I174V	Leber congenital amaurosis 9	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 142959058.	NM_022787.4(NMNAT1):c.18G>T (p.Lys6Asn) GRCh37: Chr1:10032149 GRCh38: Chr1:9972091	NMNAT1	K6N	Leber congenital amaurosis 9, Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142620759.	NC_000001.10:g.(?_10035630)_(10041248_?)del GRCh37: Chr1:10035630-10041248	NMNAT1		Leber congenital amaurosis 9	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 142417460.	NM_022787.4(NMNAT1):c.676del (p.Ile226fs) GRCh37: Chr1:10042591 GRCh38: Chr1:9982533	NMNAT1	I226fs	Leber congenital amaurosis 9	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 141545361.	NM_022787.4(NMNAT1):c.550A>G (p.Ile184Val) GRCh37: Chr1:10042469 GRCh38: Chr1:9982411	NMNAT1	I184V	Leber congenital amaurosis 9	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 141240562.	NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs) GRCh37: Chr1:10041181-10041182 GRCh38: Chr1:9981123-9981124	NMNAT1	E131fs	Leber congenital amaurosis 9	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 141235963.	NC_000001.10:g.(?_10032132)_(10041248_?)dup GRCh37: Chr1:10032132-10041248	NMNAT1		Leber congenital amaurosis 9	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 140936464.	NM_022787.4(NMNAT1):c.553T>C (p.Cys185Arg) GRCh37: Chr1:10042472 GRCh38: Chr1:9982414	NMNAT1	C185R	Leber congenital amaurosis 9	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 139995465.	NM_022787.4(NMNAT1):c.391G>A (p.Glu131Lys) GRCh37: Chr1:10041180 GRCh38: Chr1:9981122	NMNAT1	E131K	Leber congenital amaurosis 9	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 139717566.	NM_022787.4(NMNAT1):c.410A>T (p.Gln137Leu) GRCh37: Chr1:10041199 GRCh38: Chr1:9981141	NMNAT1	Q137L	Leber congenital amaurosis 9	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 139121867.	NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu) GRCh37: Chr1:10032225 GRCh38: Chr1:9972167	NMNAT1	K32E	Leber congenital amaurosis 9	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 137822468.	NM_022787.4(NMNAT1):c.620G>A (p.Arg207Gln) GRCh37: Chr1:10042539 GRCh38: Chr1:9982481	NMNAT1	R207Q	Leber congenital amaurosis 9	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 137682569.	NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp) GRCh37: Chr1:10032169 GRCh38: Chr1:9972111	NMNAT1	A13D	Leber congenital amaurosis 9	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 137444670.	NM_022787.4(NMNAT1):c.213A>C (p.Glu71Asp) GRCh37: Chr1:10035747 GRCh38: Chr1:9975689	NMNAT1	E71D	Leber congenital amaurosis 9	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 137222771.	NM_022787.4(NMNAT1):c.578C>T (p.Ala193Val) GRCh37: Chr1:10042497 GRCh38: Chr1:9982439	NMNAT1	A193V	Leber congenital amaurosis 9	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 136540672.	NM_022787.4(NMNAT1):c.554G>A (p.Cys185Tyr) GRCh37: Chr1:10042473 GRCh38: Chr1:9982415	NMNAT1	C185Y	Leber congenital amaurosis 9	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 136035973.	NM_022787.4(NMNAT1):c.829G>A (p.Ala277Thr) GRCh37: Chr1:10042748 GRCh38: Chr1:9982690	NMNAT1	A277T	Leber congenital amaurosis 9	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 116760174.	NM_022787.4(NMNAT1):c.440-16G>T GRCh37: Chr1:10042343 GRCh38: Chr1:9982285	NMNAT1		Leber congenital amaurosis 9	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 114758375.	NM_022787.4(NMNAT1):c.12C>T (p.Ser4=) GRCh37: Chr1:10032143 GRCh38: Chr1:9972085	NMNAT1		Leber congenital amaurosis 9	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 114679376.	NM_022787.4(NMNAT1):c.366G>A (p.Arg122=) GRCh37: Chr1:10041155 GRCh38: Chr1:9981097	NMNAT1		Leber congenital amaurosis 9	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 113837077.	NM_022787.4(NMNAT1):c.531C>T (p.Ile177=) GRCh37: Chr1:10042450 GRCh38: Chr1:9982392	NMNAT1		Leber congenital amaurosis 9	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 112901878.	NM_022787.4(NMNAT1):c.372A>G (p.Gly124=) GRCh37: Chr1:10041161 GRCh38: Chr1:9981103	NMNAT1		Leber congenital amaurosis 9	Likely benign (Feb 26, 2020)	criteria provided, single submitter
Select item 112560379.	NM_022787.4(NMNAT1):c.651C>T (p.Ile217=) GRCh37: Chr1:10042570 GRCh38: Chr1:9982512	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 112262380.	NM_022787.4(NMNAT1):c.115+8C>G GRCh37: Chr1:10032254 GRCh38: Chr1:9972196	NMNAT1		Leber congenital amaurosis 9	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 111750881.	NM_022787.4(NMNAT1):c.66C>T (p.Asn22=) GRCh37: Chr1:10032197 GRCh38: Chr1:9972139	NMNAT1		Leber congenital amaurosis 9	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 110353282.	NM_022787.4(NMNAT1):c.126A>G (p.Thr42=) GRCh37: Chr1:10035660 GRCh38: Chr1:9975602	NMNAT1		Leber congenital amaurosis 9	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 108546683.	NM_022787.4(NMNAT1):c.300-5T>C GRCh37: Chr1:10041084 GRCh38: Chr1:9981026	NMNAT1		Leber congenital amaurosis 9	Likely benign (Dec 27, 2019)	criteria provided, single submitter
Select item 108243084.	NM_022787.4(NMNAT1):c.316T>C (p.Leu106=) GRCh37: Chr1:10041105 GRCh38: Chr1:9981047	NMNAT1		Leber congenital amaurosis 9	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 108242785.	NM_022787.4(NMNAT1):c.216T>C (p.Leu72=) GRCh37: Chr1:10035750 GRCh38: Chr1:9975692	NMNAT1		Leber congenital amaurosis 9	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 107152886.	NC_000001.10:g.(?_10027411)_(10042759_?)del GRCh37: Chr1:10027411-10042759	NMNAT1		Leber congenital amaurosis 9	Pathogenic (Feb 22, 2020)	criteria provided, single submitter
Select item 106268887.	NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala) GRCh37: Chr1:10035779 GRCh38: Chr1:9975721	NMNAT1	V82A	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	Likely pathogenic	criteria provided, single submitter
Select item 106268488.	NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser) GRCh37: Chr1:10042419 GRCh38: Chr1:9982361	NMNAT1	N167S	Leber congenital amaurosis 9, not provided	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105972189.	NM_022787.4(NMNAT1):c.589A>G (p.Ile197Val) GRCh37: Chr1:10042508 GRCh38: Chr1:9982450	NMNAT1	I197V	Leber congenital amaurosis 9	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 105967290.	NM_022787.4(NMNAT1):c.664T>A (p.Ser222Thr) GRCh37: Chr1:10042583 GRCh38: Chr1:9982525	NMNAT1	S222T	Leber congenital amaurosis 9	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 105366591.	NM_022787.4(NMNAT1):c.833A>C (p.Lys278Thr) GRCh37: Chr1:10042752 GRCh38: Chr1:9982694	NMNAT1	K278T	Inborn genetic diseases, Leber congenital amaurosis 9	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105333692.	NM_022787.4(NMNAT1):c.106A>G (p.Asn36Asp) GRCh37: Chr1:10032237 GRCh38: Chr1:9972179	NMNAT1	N36D	Leber congenital amaurosis 9	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 105078993.	NM_022787.4(NMNAT1):c.299+526_*968dup GRCh37: Chr1:10036306-10036307 GRCh38: Chr1:9976248-9976249	NMNAT1		Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, Leber congenital amaurosis 9	Pathogenic (Apr 9, 2021)	no assertion criteria provided
Select item 104321494.	NM_022787.4(NMNAT1):c.763A>G (p.Ser255Gly) GRCh37: Chr1:10042682 GRCh38: Chr1:9982624	NMNAT1	S255G	Leber congenital amaurosis 9	Uncertain significance (Sep 7, 2021)	criteria provided, single submitter
Select item 104100495.	NM_022787.4(NMNAT1):c.184C>A (p.Pro62Thr) GRCh37: Chr1:10035718 GRCh38: Chr1:9975660	NMNAT1	P62T	Leber congenital amaurosis 9	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 104050096.	NM_022787.4(NMNAT1):c.793G>A (p.Val265Ile) GRCh37: Chr1:10042712 GRCh38: Chr1:9982654	NMNAT1	V265I	Leber congenital amaurosis 9	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 103766897.	NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe) GRCh37: Chr1:10042466 GRCh38: Chr1:9982408	NMNAT1	L183F	not provided, Leber congenital amaurosis 9	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102498598.	NM_022787.4(NMNAT1):c.610T>G (p.Trp204Gly) GRCh37: Chr1:10042529 GRCh38: Chr1:9982471	NMNAT1	W204G	Leber congenital amaurosis 9	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 102391199.	NM_022787.4(NMNAT1):c.516A>T (p.Glu172Asp) GRCh37: Chr1:10042435 GRCh38: Chr1:9982377	NMNAT1	E172D	Leber congenital amaurosis 9	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 1022764100.	NM_022787.4(NMNAT1):c.22G>A (p.Glu8Lys) GRCh37: Chr1:10032153 GRCh38: Chr1:9972095	NMNAT1	E8K	Leber congenital amaurosis 9	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter

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