ClinVar for MedGen (Select 335942) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25855121.	NM_006432.5(NPC2):c.358C>A (p.Pro120Thr) GRCh37: Chr14:74951123 GRCh38: Chr14:74484420	NPC2	P120T	Niemann-Pick disease, type C2	Likely pathogenic	criteria provided, single submitter
Select item 25851702.	NM_006432.5(NPC2):c.67C>T (p.Gln23Ter) GRCh37: Chr14:74959911 GRCh38: Chr14:74493208	NPC2	Q23*	Niemann-Pick disease, type C2	Likely pathogenic	criteria provided, single submitter
Select item 25822993.	NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter) GRCh37: Chr14:74953104-74953105 GRCh38: Chr14:74486401-74486402	NPC2	S40*	Niemann-Pick disease, type C2	Likely pathogenic (Sep 23, 2023)	criteria provided, single submitter
Select item 24255934.	NC_000014.8:g.(?_74946967)_(74947492_?)del GRCh37: Chr14:74946967-74947492	NPC2		Niemann-Pick disease, type C2	Pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 24255925.	NC_000014.8:g.(?_74951108)_(74953149_?)del GRCh37: Chr14:74951108-74953149	NPC2		Niemann-Pick disease, type C2	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 22020766.	NM_006432.5(NPC2):c.241G>A (p.Val81Ile) GRCh37: Chr14:74951240 GRCh38: Chr14:74484537	NPC2	V81I	Niemann-Pick disease, type C2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 22018967.	NM_006432.5(NPC2):c.202_203inv (p.Lys68Leu) GRCh37: Chr14:74951278-74951279 GRCh38: Chr14:74484575-74484576	NPC2	K68L	Niemann-Pick disease, type C2	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 21918318.	NM_006432.5(NPC2):c.441+13G>A GRCh37: Chr14:74947392 GRCh38: Chr14:74480689	NPC2	G152R	Niemann-Pick disease, type C2	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 21899799.	NM_006432.5(NPC2):c.363+17T>C GRCh37: Chr14:74951101 GRCh38: Chr14:74484398	NPC2		Niemann-Pick disease, type C2	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 218513710.	NM_006432.5(NPC2):c.82+15C>A GRCh37: Chr14:74959881 GRCh38: Chr14:74493178	NPC2		Niemann-Pick disease, type C2	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 217146111.	NM_006432.5(NPC2):c.146T>C (p.Leu49Pro) GRCh37: Chr14:74953076 GRCh38: Chr14:74486373	NPC2	L49P	Niemann-Pick disease, type C2	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 215570212.	NM_006432.5(NPC2):c.62C>A (p.Pro21Gln) GRCh37: Chr14:74959916 GRCh38: Chr14:74493213	NPC2	P21Q	Niemann-Pick disease, type C2	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 215109513.	NM_006432.5(NPC2):c.303C>G (p.Ile101Met) GRCh37: Chr14:74951178 GRCh38: Chr14:74484475	NPC2	I101M	Niemann-Pick disease, type C2	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 214132014.	NM_006432.5(NPC2):c.373G>T (p.Val125Leu) GRCh37: Chr14:74947473 GRCh38: Chr14:74480770	NPC2	V125L	Niemann-Pick disease, type C2	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 211173715.	NM_006432.5(NPC2):c.296G>T (p.Cys99Phe) GRCh37: Chr14:74951185 GRCh38: Chr14:74484482	NPC2	C99F	Niemann-Pick disease, type C2	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 210874916.	NM_006432.5(NPC2):c.400A>C (p.Lys134Gln) GRCh37: Chr14:74947446 GRCh38: Chr14:74480743	NPC2	K134Q	Niemann-Pick disease, type C2	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210707617.	NM_006432.5(NPC2):c.83-8T>G GRCh37: Chr14:74953147 GRCh38: Chr14:74486444	NPC2		Niemann-Pick disease, type C2	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 210225818.	NM_006432.5(NPC2):c.393G>A (p.Gln131=) GRCh37: Chr14:74947453 GRCh38: Chr14:74480750	NPC2		Niemann-Pick disease, type C2	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 210177519.	NM_006432.5(NPC2):c.120C>T (p.Ser40=) GRCh37: Chr14:74953102 GRCh38: Chr14:74486399	NPC2		Niemann-Pick disease, type C2	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209290020.	NM_006432.5(NPC2):c.132C>A (p.Thr44=) GRCh37: Chr14:74953090 GRCh38: Chr14:74486387	NPC2		Niemann-Pick disease, type C2	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 208801221.	NM_006432.5(NPC2):c.2T>G (p.Met1Arg) GRCh37: Chr14:74959976 GRCh38: Chr14:74493273	NPC2	M1R	Niemann-Pick disease, type C2	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 208223622.	NM_006432.5(NPC2):c.217G>A (p.Val73Met) GRCh37: Chr14:74951264 GRCh38: Chr14:74484561	NPC2	V73M	Niemann-Pick disease, type C2	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 206761823.	NM_006432.5(NPC2):c.321T>C (p.Tyr107=) GRCh37: Chr14:74951160 GRCh38: Chr14:74484457	NPC2		Niemann-Pick disease, type C2	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 202937024.	NM_006432.5(NPC2):c.39C>G (p.Leu13=) GRCh37: Chr14:74959939 GRCh38: Chr14:74493236	NPC2		Niemann-Pick disease, type C2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202655925.	NM_006432.5(NPC2):c.414C>T (p.Leu138=) GRCh37: Chr14:74947432 GRCh38: Chr14:74480729	NPC2		Niemann-Pick disease, type C2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 202317026.	NM_006432.5(NPC2):c.234G>A (p.Leu78=) GRCh37: Chr14:74951247 GRCh38: Chr14:74484544	NPC2		Niemann-Pick disease, type C2	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 201316027.	NM_006432.5(NPC2):c.442-10A>G GRCh37: Chr14:74947001 GRCh38: Chr14:74480298	NPC2		Niemann-Pick disease, type C2	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 201142328.	NM_006432.5(NPC2):c.161C>G (p.Ser54Cys) GRCh37: Chr14:74953061 GRCh38: Chr14:74486358	NPC2	S54C	Niemann-Pick disease, type C2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 201093229.	NM_006432.5(NPC2):c.82+10A>C GRCh37: Chr14:74959886 GRCh38: Chr14:74493183	NPC2		Niemann-Pick disease, type C2	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 200311530.	NM_006432.5(NPC2):c.191-14T>C GRCh37: Chr14:74951304 GRCh38: Chr14:74484601	NPC2		Niemann-Pick disease, type C2	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 199690431.	NM_006432.5(NPC2):c.315G>A (p.Lys105=) GRCh37: Chr14:74951166 GRCh38: Chr14:74484463	NPC2		Niemann-Pick disease, type C2	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 198581732.	NM_006432.5(NPC2):c.232C>G (p.Leu78Val) GRCh37: Chr14:74951249 GRCh38: Chr14:74484546	NPC2	L78V	Niemann-Pick disease, type C2	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 198328833.	NM_006432.5(NPC2):c.388C>T (p.Leu130Phe) GRCh37: Chr14:74947458 GRCh38: Chr14:74480755	NPC2	L130F	Niemann-Pick disease, type C2	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 198087334.	NM_006432.5(NPC2):c.54G>A (p.Gln18=) GRCh37: Chr14:74959924 GRCh38: Chr14:74493221	NPC2		Niemann-Pick disease, type C2	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 197921835.	NM_006432.5(NPC2):c.13G>A (p.Ala5Thr) GRCh37: Chr14:74959965 GRCh38: Chr14:74493262	NPC2	A5T	Niemann-Pick disease, type C2	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 197168036.	NM_006432.5(NPC2):c.259A>T (p.Ile87Phe) GRCh37: Chr14:74951222 GRCh38: Chr14:74484519	NPC2	I87F	Niemann-Pick disease, type C2	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 196392237.	NM_006432.5(NPC2):c.83-5T>C GRCh37: Chr14:74953144 GRCh38: Chr14:74486441	NPC2		Niemann-Pick disease, type C2	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 195992538.	NM_006432.5(NPC2):c.360C>T (p.Pro120=) GRCh37: Chr14:74951121 GRCh38: Chr14:74484418	NPC2		Niemann-Pick disease, type C2	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 194457339.	NM_006432.5(NPC2):c.82+8C>G GRCh37: Chr14:74959888 GRCh38: Chr14:74493185	NPC2		Niemann-Pick disease, type C2	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 193955240.	NM_006432.5(NPC2):c.441+8T>C GRCh37: Chr14:74947397 GRCh38: Chr14:74480694	NPC2	L150P	Niemann-Pick disease, type C2	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 193787641.	NM_006432.5(NPC2):c.276T>C (p.Gly92=) GRCh37: Chr14:74951205 GRCh38: Chr14:74484502	NPC2		Niemann-Pick disease, type C2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 192178642.	NM_006432.5(NPC2):c.3G>T (p.Met1Ile) GRCh37: Chr14:74959975 GRCh38: Chr14:74493272	NPC2	M1I	Niemann-Pick disease, type C2	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 191614143.	NM_006432.5(NPC2):c.10C>T (p.Leu4=) GRCh37: Chr14:74959968 GRCh38: Chr14:74493265	NPC2		Niemann-Pick disease, type C2	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 191121444.	NM_006432.5(NPC2):c.82+15C>T GRCh37: Chr14:74959881 GRCh38: Chr14:74493178	NPC2		Niemann-Pick disease, type C2	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 172694645.	NM_006432.5(NPC2):c.91del (p.Asp31fs) GRCh37: Chr14:74953131 GRCh38: Chr14:74486428	NPC2	D31fs	Niemann-Pick disease, type C2	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172684246.	NM_006432.5(NPC2):c.148_149del (p.Ser50fs) GRCh37: Chr14:74953073-74953074 GRCh38: Chr14:74486370-74486371	NPC2	S50fs	Niemann-Pick disease, type C2	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172588347.	NM_006432.5(NPC2):c.218del (p.Val73fs) GRCh37: Chr14:74951263 GRCh38: Chr14:74484560	NPC2	V73fs	Niemann-Pick disease, type C2	Likely pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 172567648.	NM_006432.5(NPC2):c.154G>T (p.Gly52Ter) GRCh37: Chr14:74953068 GRCh38: Chr14:74486365	NPC2	G52*	Niemann-Pick disease, type C2	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172546849.	NM_006432.5(NPC2):c.184_185del (p.Thr62fs) GRCh37: Chr14:74953037-74953038 GRCh38: Chr14:74486334-74486335	NPC2	T62fs	Niemann-Pick disease, type C2	Likely pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 172522250.	NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs) GRCh37: Chr14:74959913-74959914 GRCh38: Chr14:74493210-74493211	NPC2	V22fs	Niemann-Pick disease, type C2	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172452251.	NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs) GRCh37: Chr14:74951142-74951145 GRCh38: Chr14:74484439-74484442	NPC2	K112fs	Niemann-Pick disease, type C2	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 172438752.	NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs) GRCh37: Chr14:74951231-74951232 GRCh38: Chr14:74484528-74484529	NPC2	P84fs	Niemann-Pick disease, type C2	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 171502453.	NM_006432.5(NPC2):c.349A>C (p.Ser117Arg) GRCh37: Chr14:74951132 GRCh38: Chr14:74484429	NPC2	S117R	Niemann-Pick disease, type C2	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 171050154.	NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu) GRCh37: Chr18:21121352 GRCh38: Chr18:23541388	NPC1	A764E	Niemann-Pick disease, type C2	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 167293455.	NM_006432.5(NPC2):c.27G>C (p.Leu9=) GRCh37: Chr14:74959951 GRCh38: Chr14:74493248	NPC2		Niemann-Pick disease, type C2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 166010356.	NM_006432.5(NPC2):c.375G>A (p.Val125=) GRCh37: Chr14:74947471 GRCh38: Chr14:74480768	NPC2		Niemann-Pick disease, type C2	Likely benign (Dec 9, 2020)	criteria provided, single submitter
Select item 165546057.	NM_006432.5(NPC2):c.364-13T>C GRCh37: Chr14:74947495 GRCh38: Chr14:74480792	NPC2		Niemann-Pick disease, type C2	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 165189958.	NM_006432.5(NPC2):c.30C>T (p.Leu10=) GRCh37: Chr14:74959948 GRCh38: Chr14:74493245	NPC2		Niemann-Pick disease, type C2, Inborn genetic diseases	Likely benign (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163263159.	NM_006432.5(NPC2):c.363+16_363+18del GRCh37: Chr14:74951100-74951102 GRCh38: Chr14:74484397-74484399	NPC2		Niemann-Pick disease, type C2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 162915860.	NM_006432.5(NPC2):c.364-11T>C GRCh37: Chr14:74947493 GRCh38: Chr14:74480790	NPC2		Niemann-Pick disease, type C2	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 162700461.	NM_006432.5(NPC2):c.191-7C>G GRCh37: Chr14:74951297 GRCh38: Chr14:74484594	NPC2		Niemann-Pick disease, type C2	Likely benign (Jan 12, 2021)	criteria provided, single submitter
Select item 162398762.	NM_006432.5(NPC2):c.129C>T (p.Pro43=) GRCh37: Chr14:74953093 GRCh38: Chr14:74486390	NPC2		Niemann-Pick disease, type C2	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 162327263.	NM_006432.5(NPC2):c.82+7C>T GRCh37: Chr14:74959889 GRCh38: Chr14:74493186	NPC2		Niemann-Pick disease, type C2	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 161522064.	NM_006432.5(NPC2):c.327C>T (p.Tyr109=) GRCh37: Chr14:74951154 GRCh38: Chr14:74484451	NPC2		Niemann-Pick disease, type C2	Likely benign (Jul 9, 2021)	criteria provided, single submitter
Select item 161170665.	NM_006432.5(NPC2):c.312C>T (p.Asp104=) GRCh37: Chr14:74951169 GRCh38: Chr14:74484466	NPC2		Niemann-Pick disease, type C2	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 160975866.	NM_006432.5(NPC2):c.216C>A (p.Ala72=) GRCh37: Chr14:74951265 GRCh38: Chr14:74484562	NPC2		Niemann-Pick disease, type C2	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 158547967.	NM_006432.5(NPC2):c.190+6dup GRCh37: Chr14:74953025-74953026 GRCh38: Chr14:74486322-74486323	NPC2		Niemann-Pick disease, type C2	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 158163168.	NM_006432.5(NPC2):c.69G>A (p.Gln23=) GRCh37: Chr14:74959909 GRCh38: Chr14:74493206	NPC2		Niemann-Pick disease, type C2	Likely benign (Sep 17, 2021)	criteria provided, single submitter
Select item 157860469.	NM_006432.5(NPC2):c.83-15A>G GRCh37: Chr14:74953154 GRCh38: Chr14:74486451	NPC2		Niemann-Pick disease, type C2	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 157603770.	NM_006432.5(NPC2):c.82+15C>G GRCh37: Chr14:74959881 GRCh38: Chr14:74493178	NPC2		Niemann-Pick disease, type C2	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 157489071.	NM_006432.5(NPC2):c.190+17C>G GRCh37: Chr14:74953015 GRCh38: Chr14:74486312	NPC2		Niemann-Pick disease, type C2	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 157472972.	NM_006432.5(NPC2):c.222G>A (p.Val74=) GRCh37: Chr14:74951259 GRCh38: Chr14:74484556	NPC2		Niemann-Pick disease, type C2	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 157152073.	NM_006432.5(NPC2):c.82+9C>T GRCh37: Chr14:74959887 GRCh38: Chr14:74493184	NPC2		Niemann-Pick disease, type C2	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 156269274.	NM_006432.5(NPC2):c.27G>A (p.Leu9=) GRCh37: Chr14:74959951 GRCh38: Chr14:74493248	NPC2		Niemann-Pick disease, type C2	Likely benign (May 31, 2021)	criteria provided, single submitter
Select item 156055875.	NM_006432.5(NPC2):c.429C>A (p.Ile143=) GRCh37: Chr14:74947417 GRCh38: Chr14:74480714	NPC2		Niemann-Pick disease, type C2	Likely benign (May 24, 2021)	criteria provided, single submitter
Select item 155967376.	NM_006432.5(NPC2):c.441+9A>T GRCh37: Chr14:74947396 GRCh38: Chr14:74480693	NPC2		Niemann-Pick disease, type C2	Likely benign (May 17, 2021)	criteria provided, single submitter
Select item 155722577.	NM_006432.5(NPC2):c.318C>T (p.Thr106=) GRCh37: Chr14:74951163 GRCh38: Chr14:74484460	NPC2		Niemann-Pick disease, type C2	Likely benign (May 6, 2021)	criteria provided, single submitter
Select item 155279078.	NM_006432.5(NPC2):c.453C>T (p.Leu151=) GRCh37: Chr14:74946980 GRCh38: Chr14:74480277	NPC2		Niemann-Pick disease, type C2	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 153792679.	NM_006432.5(NPC2):c.63G>A (p.Pro21=) GRCh37: Chr14:74959915 GRCh38: Chr14:74493212	NPC2		Niemann-Pick disease, type C2	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 152395980.	NM_006432.5(NPC2):c.437A>G (p.Gln146Arg) GRCh37: Chr14:74947409 GRCh38: Chr14:74480706	NPC2	Q146R	Niemann-Pick disease, type C2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 149615981.	NM_006432.5(NPC2):c.38T>C (p.Leu13Pro) GRCh37: Chr14:74959940 GRCh38: Chr14:74493237	NPC2	L13P	Niemann-Pick disease, type C2	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 149255582.	NM_006432.5(NPC2):c.82+6C>T GRCh37: Chr14:74959890 GRCh38: Chr14:74493187	NPC2		Niemann-Pick disease, type C2	Uncertain significance (Apr 24, 2021)	criteria provided, single submitter
Select item 147954283.	NM_006432.5(NPC2):c.364-3C>T GRCh37: Chr14:74947485 GRCh38: Chr14:74480782	NPC2		Niemann-Pick disease, type C2	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 147169084.	NM_006432.5(NPC2):c.202A>G (p.Lys68Glu) GRCh37: Chr14:74951279 GRCh38: Chr14:74484576	NPC2	K68E	Niemann-Pick disease, type C2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 146868285.	NM_006432.5(NPC2):c.191A>T (p.Asn64Ile) GRCh37: Chr14:74951290 GRCh38: Chr14:74484587	NPC2	N64I	Niemann-Pick disease, type C2	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 146102486.	NM_006432.5(NPC2):c.406C>G (p.Gln136Glu) GRCh37: Chr14:74947440 GRCh38: Chr14:74480737	NPC2	Q136E	Niemann-Pick disease, type C2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 145981087.	NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter) GRCh37: Chr14:74953057 GRCh38: Chr14:74486354	NPC2	Y55*	Niemann-Pick disease, type C2	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 145742388.	NM_006432.5(NPC2):c.281dup (p.Ser95fs) GRCh37: Chr14:74951199-74951200 GRCh38: Chr14:74484496-74484497	NPC2	S95fs	Niemann-Pick disease, type C2	Pathogenic (Jun 23, 2021)	criteria provided, single submitter
Select item 145556189.	NM_006432.5(NPC2):c.106G>T (p.Glu36Ter) GRCh37: Chr14:74953116 GRCh38: Chr14:74486413	NPC2	E36*	Niemann-Pick disease, type C2	Pathogenic (Oct 24, 2021)	criteria provided, single submitter
Select item 140891890.	NM_006432.5(NPC2):c.86C>G (p.Ser29Cys) GRCh37: Chr14:74953136 GRCh38: Chr14:74486433	NPC2	S29C	Niemann-Pick disease, type C2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 140570191.	NM_006432.5(NPC2):c.160T>C (p.Ser54Pro) GRCh37: Chr14:74953062 GRCh38: Chr14:74486359	NPC2	S54P	Niemann-Pick disease, type C2	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 140072692.	NM_006432.5(NPC2):c.381G>C (p.Glu127Asp) GRCh37: Chr14:74947465 GRCh38: Chr14:74480762	NPC2	E127D	Niemann-Pick disease, type C2	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 138907093.	NM_006432.5(NPC2):c.305A>G (p.Gln102Arg) GRCh37: Chr14:74951176 GRCh38: Chr14:74484473	NPC2	Q102R	Niemann-Pick disease, type C2, Inborn genetic diseases	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138843194.	NM_006432.5(NPC2):c.190+4C>T GRCh37: Chr14:74953028 GRCh38: Chr14:74486325	NPC2		Niemann-Pick disease, type C2	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 135905295.	NM_006432.5(NPC2):c.83-19A>G GRCh37: Chr14:74953158 GRCh38: Chr14:74486455	NPC2		Niemann-Pick disease, type C2	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 135627396.	NM_006432.5(NPC2):c.351C>T (p.Ser117=) GRCh37: Chr14:74951130 GRCh38: Chr14:74484427	NPC2		Niemann-Pick disease, type C2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 134999897.	NM_006432.5(NPC2):c.12G>A (p.Leu4=) GRCh37: Chr14:74959966 GRCh38: Chr14:74493263	NPC2		Niemann-Pick disease, type C2	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 133273698.	NM_006432.5(NPC2):c.297C>G (p.Cys99Trp) GRCh37: Chr14:74951184 GRCh38: Chr14:74484481	NPC2	C99W	Niemann-Pick disease, type C2	Likely pathogenic	criteria provided, single submitter
Select item 130342299.	NM_006432.5(NPC2):c.262C>T (p.Pro88Ser) GRCh37: Chr14:74951219 GRCh38: Chr14:74484516	NPC2	P88S	Niemann-Pick disease, type C2, not provided	Uncertain significance (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1210442100.	NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) GRCh37: Chr14:74951203 GRCh38: Chr14:74484500	NPC2	C93F	Niemann-Pick disease, type C2	Conflicting interpretations of pathogenicity (Jan 13, 2022)	criteria provided, conflicting interpretations

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