ClinVar for MedGen (Select 465922) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25731091.	NM_000271.5(NPC1):c.2246-1G>A GRCh37: Chr18:21121398 GRCh38: Chr18:23541434	NPC1		Niemann-Pick disease, type C1	Likely pathogenic (May 1, 2023)	criteria provided, single submitter
Select item 25065222.	NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser) GRCh37: Chr18:21119830 GRCh38: Chr18:23539866	NPC1	C914S	Niemann-Pick disease, type C1	Pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 25063933.	NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg) GRCh37: Chr18:21115664 GRCh38: Chr18:23535700	NPC1	S1082R	Niemann-Pick disease, type C1	Likely pathogenic (Jun 21, 2023)	criteria provided, single submitter
Select item 25063904.	NM_000271.5(NPC1):c.1522G>A (p.Asp508Asn) GRCh37: Chr18:21134753 GRCh38: Chr18:23554789	NPC1	D508N	Niemann-Pick disease, type C1	Uncertain significance (Jun 21, 2023)	criteria provided, single submitter
Select item 24344135.	NM_000271.5(NPC1):c.3340A>G (p.Met1114Val) GRCh37: Chr18:21115570 GRCh38: Chr18:23535606	NPC1	M1114V	Niemann-Pick disease, type C1	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 24344126.	NM_000271.5(NPC1):c.1453T>G (p.Leu485Val) GRCh37: Chr18:21134822 GRCh38: Chr18:23554858	NPC1	L485V	Niemann-Pick disease, type C1	Uncertain significance (Jan 12, 2023)	criteria provided, single submitter
Select item 24344117.	NM_000271.5(NPC1):c.1013T>C (p.Leu338Pro) GRCh37: Chr18:21136520 GRCh38: Chr18:23556556	NPC1	L338P	Niemann-Pick disease, type C1	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 24322608.	NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs) GRCh37: Chr18:21115437-21115440 GRCh38: Chr18:23535473-23535476	NPC1	L1157fs	Niemann-Pick disease, type C1	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 24280169.	NM_000271.5(NPC1):c.1947+14G>A GRCh37: Chr18:21124910 GRCh38: Chr18:23544946	NPC1		Niemann-Pick disease, type C1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 242800010.	NM_000271.5(NPC1):c.3787A>C (p.Thr1263Pro) GRCh37: Chr18:21112216 GRCh38: Chr18:23532252	NPC1	T1263P	Niemann-Pick disease, type C1	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 242723011.	NM_000271.5(NPC1):c.806A>G (p.Tyr269Cys) GRCh37: Chr18:21140270 GRCh38: Chr18:23560306	NPC1	Y269C	Niemann-Pick disease, type C1	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 242276012.	NC_000018.9:g.(?_18963480)_(21534612_?)dup GRCh37: Chr18:18963480-21534612	RBBP8, NPC1, MIR1-2, GATA6, SNRPD1, MIR133A1, ABHD3, CTAGE1, ANKRD29, LAMA3, MIB1, ESCO1, RIOK3, TMEM241, RMC1, GREB1L, CABLES1		Niemann-Pick disease, type C1	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 242192913.	NM_000271.5(NPC1):c.288-14T>C GRCh37: Chr18:21148976 GRCh38: Chr18:23569012	NPC1		Niemann-Pick disease, type C1	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 242115014.	NM_000271.5(NPC1):c.2161G>A (p.Asp721Asn) GRCh37: Chr18:21123503 GRCh38: Chr18:23543539	NPC1	D721N	Niemann-Pick disease, type C1	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 242045315.	NM_000271.5(NPC1):c.925A>G (p.Ile309Val) GRCh37: Chr18:21137111 GRCh38: Chr18:23557147	NPC1	I309V	Niemann-Pick disease, type C1	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 241978116.	NM_000271.5(NPC1):c.149C>T (p.Pro50Leu) GRCh37: Chr18:21153447 GRCh38: Chr18:23573483	NPC1	P50L	Niemann-Pick disease, type C1	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 241878617.	NM_000271.5(NPC1):c.2911+20A>G GRCh37: Chr18:21119299 GRCh38: Chr18:23539335	NPC1		Niemann-Pick disease, type C1	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 241877518.	NM_000271.5(NPC1):c.3755-18del GRCh37: Chr18:21112266 GRCh38: Chr18:23532302	NPC1		Niemann-Pick disease, type C1	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 241625219.	NM_000271.5(NPC1):c.169G>A (p.Asp57Asn) GRCh37: Chr18:21153427 GRCh38: Chr18:23573463	NPC1	D57N	Niemann-Pick disease, type C1	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 241522920.	NM_000271.5(NPC1):c.3302A>G (p.Asn1101Ser) GRCh37: Chr18:21115608 GRCh38: Chr18:23535644	NPC1	N1101S	Niemann-Pick disease, type C1	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 241466321.	NM_000271.5(NPC1):c.1784A>C (p.Lys595Thr) GRCh37: Chr18:21125087 GRCh38: Chr18:23545123	NPC1	K595T	Niemann-Pick disease, type C1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 241359022.	NM_000271.5(NPC1):c.2044T>A (p.Leu682Met) GRCh37: Chr18:21124394 GRCh38: Chr18:23544430	NPC1	L682M	Niemann-Pick disease, type C1	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 220193923.	NM_000271.5(NPC1):c.2440G>A (p.Glu814Lys) GRCh37: Chr18:21121106 GRCh38: Chr18:23541142	NPC1	E814K	Niemann-Pick disease, type C1	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 220192024.	NM_000271.5(NPC1):c.1947+7_1947+8insCAGG GRCh37: Chr18:21124916-21124917 GRCh38: Chr18:23544952-23544953	NPC1		Niemann-Pick disease, type C1	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 220190225.	NM_000271.5(NPC1):c.1021C>T (p.Arg341Cys) GRCh37: Chr18:21136512 GRCh38: Chr18:23556548	NPC1	R341C	Niemann-Pick disease, type C1	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 220140126.	NM_000271.5(NPC1):c.833C>T (p.Ala278Val) GRCh37: Chr18:21140243 GRCh38: Chr18:23560279	NPC1	A278V	Niemann-Pick disease, type C1	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 220108627.	NM_000271.5(NPC1):c.2351G>C (p.Gly784Ala) GRCh37: Chr18:21121292 GRCh38: Chr18:23541328	NPC1	G784A	Niemann-Pick disease, type C1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 220052328.	NM_000271.5(NPC1):c.175G>A (p.Val59Met) GRCh37: Chr18:21153421 GRCh38: Chr18:23573457	NPC1	V59M	Niemann-Pick disease, type C1	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 220021429.	NM_000271.5(NPC1):c.3322G>A (p.Ala1108Thr) GRCh37: Chr18:21115588 GRCh38: Chr18:23535624	NPC1	A1108T	Niemann-Pick disease, type C1	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 219998530.	NM_000271.5(NPC1):c.3562G>A (p.Glu1188Lys) GRCh37: Chr18:21114439 GRCh38: Chr18:23534475	NPC1	E1188K	Niemann-Pick disease, type C1	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 219968431.	NM_000271.5(NPC1):c.3350T>A (p.Leu1117Gln) GRCh37: Chr18:21115560 GRCh38: Chr18:23535596	NPC1	L1117Q	Niemann-Pick disease, type C1	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 219966232.	NM_000271.5(NPC1):c.1947+14G>C GRCh37: Chr18:21124910 GRCh38: Chr18:23544946	NPC1		Niemann-Pick disease, type C1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 219894233.	NM_000271.5(NPC1):c.1980C>T (p.Gly660=) GRCh37: Chr18:21124458 GRCh38: Chr18:23544494	NPC1		Niemann-Pick disease, type C1	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 219859834.	NM_000271.5(NPC1):c.1947+15_1947+16insGGGGGC GRCh37: Chr18:21124908-21124909 GRCh38: Chr18:23544944-23544945	NPC1		Niemann-Pick disease, type C1	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 219805135.	NM_000271.5(NPC1):c.423G>A (p.Val141=) GRCh37: Chr18:21148827 GRCh38: Chr18:23568863	NPC1		Niemann-Pick disease, type C1	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 219714736.	NM_000271.5(NPC1):c.2911+11C>T GRCh37: Chr18:21119308 GRCh38: Chr18:23539344	NPC1		Niemann-Pick disease, type C1	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 219520337.	NM_000271.5(NPC1):c.1947+15_1947+16insGGGGT GRCh37: Chr18:21124908-21124909 GRCh38: Chr18:23544944-23544945	NPC1		Niemann-Pick disease, type C1	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 219519938.	NM_000271.5(NPC1):c.736G>A (p.Val246Ile) GRCh37: Chr18:21140340 GRCh38: Chr18:23560376	NPC1	V246I	Niemann-Pick disease, type C1	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 219307839.	NM_000271.5(NPC1):c.3789T>C (p.Thr1263=) GRCh37: Chr18:21112214 GRCh38: Chr18:23532250	NPC1		Niemann-Pick disease, type C1	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 219183840.	NM_000271.5(NPC1):c.1172A>C (p.Glu391Ala) GRCh37: Chr18:21136361 GRCh38: Chr18:23556397	NPC1	E391A	Niemann-Pick disease, type C1	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 219179641.	NM_000271.5(NPC1):c.3477+20C>T GRCh37: Chr18:21115413 GRCh38: Chr18:23535449	NPC1		Niemann-Pick disease, type C1	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 219172542.	NM_000271.5(NPC1):c.2198C>T (p.Pro733Leu) GRCh37: Chr18:21123466 GRCh38: Chr18:23543502	NPC1	P733L	Niemann-Pick disease, type C1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 219172243.	NM_000271.5(NPC1):c.336A>G (p.Thr112=) GRCh37: Chr18:21148914 GRCh38: Chr18:23568950	NPC1		Niemann-Pick disease, type C1	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 219094844.	NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys) GRCh37: Chr18:21112186 GRCh38: Chr18:23532222	NPC1	E1273K	Niemann-Pick disease, type C1, not specified	Uncertain significance (May 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218895945.	NM_000271.5(NPC1):c.333G>C (p.Leu111=) GRCh37: Chr18:21148917 GRCh38: Chr18:23568953	NPC1		Niemann-Pick disease, type C1	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 218855146.	NM_000271.5(NPC1):c.1947+14_1947+15insT GRCh37: Chr18:21124909-21124910 GRCh38: Chr18:23544945-23544946	NPC1		Niemann-Pick disease, type C1	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 218793447.	NM_000271.5(NPC1):c.720C>T (p.Cys240=) GRCh37: Chr18:21140356 GRCh38: Chr18:23560392	NPC1		Niemann-Pick disease, type C1	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 218640548.	NM_000271.5(NPC1):c.1009C>T (p.Arg337Trp) GRCh37: Chr18:21136524 GRCh38: Chr18:23556560	NPC1	R337W	Niemann-Pick disease, type C1	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 218595149.	NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGA GRCh37: Chr18:21124907-21124908 GRCh38: Chr18:23544943-23544944	NPC1		Niemann-Pick disease, type C1	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 218395050.	NM_000271.5(NPC1):c.782C>T (p.Thr261Met) GRCh37: Chr18:21140294 GRCh38: Chr18:23560330	NPC1	T261M	Niemann-Pick disease, type C1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 218371951.	NM_000271.5(NPC1):c.577A>G (p.Met193Val) GRCh37: Chr18:21141378 GRCh38: Chr18:23561414	NPC1	M193V	Niemann-Pick disease, type C1	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 218299052.	NM_000271.5(NPC1):c.1558C>T (p.Pro520Ser) GRCh37: Chr18:21131687 GRCh38: Chr18:23551723	NPC1	P520S	Inborn genetic diseases, Niemann-Pick disease, type C1	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218278653.	NM_000271.5(NPC1):c.2604+3A>G GRCh37: Chr18:21120409 GRCh38: Chr18:23540445	NPC1		Niemann-Pick disease, type C1	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 218038754.	NM_000271.5(NPC1):c.734T>C (p.Ile245Thr) GRCh37: Chr18:21140342 GRCh38: Chr18:23560378	NPC1	I245T	Niemann-Pick disease, type C1	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 217993355.	NM_000271.5(NPC1):c.1947+9_1947+10insGGT GRCh37: Chr18:21124914-21124915 GRCh38: Chr18:23544950-23544951	NPC1		Niemann-Pick disease, type C1	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 217784856.	NM_000271.5(NPC1):c.811A>G (p.Ile271Val) GRCh37: Chr18:21140265 GRCh38: Chr18:23560301	NPC1	I271V	Inborn genetic diseases, Niemann-Pick disease, type C1	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217763157.	NM_000271.5(NPC1):c.1208T>C (p.Phe403Ser) GRCh37: Chr18:21136325 GRCh38: Chr18:23556361	NPC1	F403S	Niemann-Pick disease, type C1	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 217598858.	NM_000271.5(NPC1):c.2645A>G (p.Tyr882Cys) GRCh37: Chr18:21119925 GRCh38: Chr18:23539961	NPC1	Y882C	Niemann-Pick disease, type C1	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 217530559.	NM_000271.5(NPC1):c.2281T>A (p.Ser761Thr) GRCh37: Chr18:21121362 GRCh38: Chr18:23541398	NPC1	S761T	Niemann-Pick disease, type C1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 217409560.	NM_000271.5(NPC1):c.1607C>T (p.Thr536Met) GRCh37: Chr18:21131638 GRCh38: Chr18:23551674	NPC1	T536M	Niemann-Pick disease, type C1	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 217398361.	NM_000271.5(NPC1):c.3477+14_3477+15del GRCh37: Chr18:21115418-21115419 GRCh38: Chr18:23535454-23535455	NPC1		Niemann-Pick disease, type C1	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 217255462.	NM_000271.5(NPC1):c.3284T>C (p.Ile1095Thr) GRCh37: Chr18:21115626 GRCh38: Chr18:23535662	NPC1	I1095T	Niemann-Pick disease, type C1	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 217008363.	NM_000271.5(NPC1):c.2126A>C (p.Tyr709Ser) GRCh37: Chr18:21124312 GRCh38: Chr18:23544348	NPC1	Y709S	Niemann-Pick disease, type C1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 216928964.	NM_000271.5(NPC1):c.1975G>A (p.Ala659Thr) GRCh37: Chr18:21124463 GRCh38: Chr18:23544499	NPC1	A659T	Niemann-Pick disease, type C1	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 216851265.	NM_000271.5(NPC1):c.60G>A (p.Val20=) GRCh37: Chr18:21153536 GRCh38: Chr18:23573572	NPC1		Niemann-Pick disease, type C1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 216795266.	NM_000271.5(NPC1):c.180+19G>A GRCh37: Chr18:21153397 GRCh38: Chr18:23573433	NPC1		Niemann-Pick disease, type C1	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 216773567.	NM_000271.5(NPC1):c.829A>G (p.Met277Val) GRCh37: Chr18:21140247 GRCh38: Chr18:23560283	NPC1	M277V	Niemann-Pick disease, type C1	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 216673968.	NM_000271.5(NPC1):c.2126A>T (p.Tyr709Phe) GRCh37: Chr18:21124312 GRCh38: Chr18:23544348	NPC1	Y709F	Inborn genetic diseases, Niemann-Pick disease, type C1	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216661869.	NM_000271.5(NPC1):c.2912-18C>T GRCh37: Chr18:21118653 GRCh38: Chr18:23538689	NPC1		Niemann-Pick disease, type C1	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 216661770.	NM_000271.5(NPC1):c.3042-17del GRCh37: Chr18:21116857 GRCh38: Chr18:23536893	NPC1		Niemann-Pick disease, type C1	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 216576871.	NM_000271.5(NPC1):c.1972A>G (p.Ile658Val) GRCh37: Chr18:21124466 GRCh38: Chr18:23544502	NPC1	I658V	Niemann-Pick disease, type C1	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 216463872.	NM_000271.5(NPC1):c.464-12T>C GRCh37: Chr18:21141503 GRCh38: Chr18:23561539	NPC1		Niemann-Pick disease, type C1	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 216335173.	NM_000271.5(NPC1):c.2973G>T (p.Gln991His) GRCh37: Chr18:21118574 GRCh38: Chr18:23538610	NPC1	Q991H	Niemann-Pick disease, type C1	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 216193074.	NM_000271.5(NPC1):c.3591+17G>A GRCh37: Chr18:21114393 GRCh38: Chr18:23534429	NPC1		Niemann-Pick disease, type C1	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 216164975.	NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn) GRCh37: Chr18:21123530 GRCh38: Chr18:23543566	NPC1	D712N	Niemann-Pick disease, type C1	Likely pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 216038176.	NM_000271.5(NPC1):c.1947+19dup GRCh37: Chr18:21124904-21124905 GRCh38: Chr18:23544940-23544941	NPC1		Niemann-Pick disease, type C1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 215956277.	NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp) GRCh37: Chr18:21121166 GRCh38: Chr18:23541202	NPC1	R794W	Niemann-Pick disease, type C1	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 215936778.	NM_000271.5(NPC1):c.922A>C (p.Asn308His) GRCh37: Chr18:21137114 GRCh38: Chr18:23557150	NPC1	N308H	Niemann-Pick disease, type C1	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 215873179.	NM_000271.5(NPC1):c.3754+12C>T GRCh37: Chr18:21113307 GRCh38: Chr18:23533343	NPC1		Niemann-Pick disease, type C1	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 215847180.	NM_000271.5(NPC1):c.3591+19G>A GRCh37: Chr18:21114391 GRCh38: Chr18:23534427	NPC1		Niemann-Pick disease, type C1	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 215552281.	NM_000271.5(NPC1):c.3295A>G (p.Ile1099Val) GRCh37: Chr18:21115615 GRCh38: Chr18:23535651	NPC1	I1099V	Niemann-Pick disease, type C1	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 215355582.	NM_000271.5(NPC1):c.934T>C (p.Ser312Pro) GRCh37: Chr18:21137102 GRCh38: Chr18:23557138	NPC1	S312P	Niemann-Pick disease, type C1	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 215329883.	NM_000271.5(NPC1):c.1947+11_1947+12insA GRCh37: Chr18:21124912-21124913 GRCh38: Chr18:23544948-23544949	NPC1		Niemann-Pick disease, type C1	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 215316084.	NM_000271.5(NPC1):c.1346C>T (p.Ala449Val) GRCh37: Chr18:21134929 GRCh38: Chr18:23554965	NPC1	A449V	Niemann-Pick disease, type C1, not provided	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215269685.	NM_000271.5(NPC1):c.181-19G>A GRCh37: Chr18:21152163 GRCh38: Chr18:23572199	NPC1		Niemann-Pick disease, type C1	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 215229686.	NM_000271.5(NPC1):c.2464_2465insT (p.Lys822fs) GRCh37: Chr18:21121081-21121082 GRCh38: Chr18:23541117-23541118	NPC1	K822fs	Niemann-Pick disease, type C1	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 215116287.	NM_000271.5(NPC1):c.3495G>A (p.Val1165=) GRCh37: Chr18:21114506 GRCh38: Chr18:23534542	NPC1		Niemann-Pick disease, type C1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 215077988.	NM_000271.5(NPC1):c.104A>T (p.Tyr35Phe) GRCh37: Chr18:21153492 GRCh38: Chr18:23573528	NPC1	Y35F	Niemann-Pick disease, type C1	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 215057989.	NM_000271.5(NPC1):c.3380T>C (p.Met1127Thr) GRCh37: Chr18:21115530 GRCh38: Chr18:23535566	NPC1	M1127T	Niemann-Pick disease, type C1	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 214927890.	NM_000271.5(NPC1):c.3373G>T (p.Val1125Phe) GRCh37: Chr18:21115537 GRCh38: Chr18:23535573	NPC1	V1125F	Niemann-Pick disease, type C1	Uncertain significance (Nov 28, 2021)	criteria provided, single submitter
Select item 214926891.	NM_000271.5(NPC1):c.1043G>A (p.Arg348Gln) GRCh37: Chr18:21136490 GRCh38: Chr18:23556526	NPC1	R348Q	Niemann-Pick disease, type C1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214923092.	NM_000271.5(NPC1):c.1947+11_1947+12insT GRCh37: Chr18:21124912-21124913 GRCh38: Chr18:23544948-23544949	NPC1		Niemann-Pick disease, type C1	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 214865593.	NM_000271.5(NPC1):c.2427C>T (p.Ser809=) GRCh37: Chr18:21121119 GRCh38: Chr18:23541155	NPC1		Niemann-Pick disease, type C1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 214832794.	NM_000271.5(NPC1):c.1580G>A (p.Ser527Asn) GRCh37: Chr18:21131665 GRCh38: Chr18:23551701	NPC1	S527N	Niemann-Pick disease, type C1	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 214806795.	NM_000271.5(NPC1):c.548C>T (p.Ala183Val) GRCh37: Chr18:21141407 GRCh38: Chr18:23561443	NPC1	A183V	Niemann-Pick disease, type C1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 214798596.	NM_000271.5(NPC1):c.1654+15C>T GRCh37: Chr18:21131576 GRCh38: Chr18:23551612	NPC1		Niemann-Pick disease, type C1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 214676997.	NM_000271.5(NPC1):c.2730C>A (p.Gly910=) GRCh37: Chr18:21119840 GRCh38: Chr18:23539876	NPC1		Niemann-Pick disease, type C1	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 214659398.	NM_000271.5(NPC1):c.1941G>C (p.Arg647Ser) GRCh37: Chr18:21124930 GRCh38: Chr18:23544966	NPC1	R647S	Niemann-Pick disease, type C1	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 214640599.	NM_000271.5(NPC1):c.2130+16C>G GRCh37: Chr18:21124292 GRCh38: Chr18:23544328	NPC1		Niemann-Pick disease, type C1	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 2145527100.	NM_000271.5(NPC1):c.2150G>A (p.Gly717Glu) GRCh37: Chr18:21123514 GRCh38: Chr18:23543550	NPC1	G717E	Niemann-Pick disease, type C1	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter

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