ClinVar for MedGen (Select 1387791) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 209

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22026471.	NM_025233.7(COASY):c.215A>G (p.Tyr72Cys) GRCh37: Chr17:40714855 GRCh38: Chr17:42562837	COASY	Y101C, Y72C	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 22021272.	NM_025233.7(COASY):c.1219G>T (p.Val407Leu) GRCh37: Chr17:40716898 GRCh38: Chr17:42564880	COASY	V407L, V436L	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 21991423.	NM_025233.7(COASY):c.403C>T (p.Arg135Cys) GRCh37: Chr17:40715043 GRCh38: Chr17:42563025	COASY	R135C, R164C	Neurodegeneration with brain iron accumulation 6, Inborn genetic diseases, not provided	Uncertain significance (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21975794.	NM_025233.7(COASY):c.1048-17C>T GRCh37: Chr17:40716710 GRCh38: Chr17:42564692	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 21975785.	NM_025233.7(COASY):c.763C>T (p.Leu255=) GRCh37: Chr17:40716041 GRCh38: Chr17:42564023	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 21975766.	NM_025233.7(COASY):c.461C>G (p.Ser154Cys) GRCh37: Chr17:40715101 GRCh38: Chr17:42563083	COASY	S154C, S183C	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 21939427.	NM_025233.7(COASY):c.576C>T (p.Tyr192=) GRCh37: Chr17:40715216 GRCh38: Chr17:42563198	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 21870858.	NM_025233.7(COASY):c.1277T>C (p.Leu426Pro) GRCh37: Chr17:40717040 GRCh38: Chr17:42565022	COASY	L455P, L426P	Neurodegeneration with brain iron accumulation 6	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 21838889.	NM_025233.7(COASY):c.700+7A>C GRCh37: Chr17:40715347 GRCh38: Chr17:42563329	COASY		Neurodegeneration with brain iron accumulation 6	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 218158110.	NM_025233.7(COASY):c.564G>C (p.Val188=) GRCh37: Chr17:40715204 GRCh38: Chr17:42563186	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 217777311.	NM_025233.7(COASY):c.111C>T (p.Leu37=) GRCh37: Chr17:40714751 GRCh38: Chr17:42562733	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 217442312.	NM_025233.7(COASY):c.1529C>T (p.Ala510Val) GRCh37: Chr17:40717720 GRCh38: Chr17:42565702	COASY	A510V, A539V	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 216443613.	NM_025233.7(COASY):c.615C>A (p.Asn205Lys) GRCh37: Chr17:40715255 GRCh38: Chr17:42563237	COASY	N205K, N234K	Neurodegeneration with brain iron accumulation 6	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 216169714.	NM_025233.7(COASY):c.437G>A (p.Arg146Gln) GRCh37: Chr17:40715077 GRCh38: Chr17:42563059	COASY	R146Q, R175Q	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 215777015.	NM_025233.7(COASY):c.1059G>C (p.Glu353Asp) GRCh37: Chr17:40716738 GRCh38: Chr17:42564720	COASY	E382D, E353D	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 215616516.	NM_025233.7(COASY):c.1485+16C>G GRCh37: Chr17:40717602 GRCh38: Chr17:42565584	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215354617.	NM_025233.7(COASY):c.87G>A (p.Ala29=) GRCh37: Chr17:40714727 GRCh38: Chr17:42562709	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 215320018.	NM_025233.7(COASY):c.1485+8G>A GRCh37: Chr17:40717594 GRCh38: Chr17:42565576	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 215085619.	NM_025233.7(COASY):c.1303-8C>T GRCh37: Chr17:40717237 GRCh38: Chr17:42565219	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 214975220.	NM_025233.7(COASY):c.821G>A (p.Gly274Glu) GRCh37: Chr17:40716099 GRCh38: Chr17:42564081	COASY	G274E, G303E	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 214865321.	NM_025233.7(COASY):c.915T>C (p.Asn305=) GRCh37: Chr17:40716193 GRCh38: Chr17:42564175	COASY		Neurodegeneration with brain iron accumulation 6	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 214669722.	NM_025233.7(COASY):c.981A>T (p.Glu327Asp) GRCh37: Chr17:40716529 GRCh38: Chr17:42564511	COASY	E327D, E356D	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 214421723.	NM_025233.7(COASY):c.356A>G (p.Gln119Arg) GRCh37: Chr17:40714996 GRCh38: Chr17:42562978	COASY	Q119R, Q148R	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 214326424.	NM_025233.7(COASY):c.1633-11C>T GRCh37: Chr17:40717913 GRCh38: Chr17:42565895	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 214157125.	NM_025233.7(COASY):c.306C>T (p.Thr102=) GRCh37: Chr17:40714946 GRCh38: Chr17:42562928	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 214156926.	NM_025233.7(COASY):c.1373G>A (p.Arg458Gln) GRCh37: Chr17:40717315 GRCh38: Chr17:42565297	COASY	R458Q, R487Q	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 213991327.	NM_025233.7(COASY):c.1485+19C>A GRCh37: Chr17:40717605 GRCh38: Chr17:42565587	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 212942828.	NM_025233.7(COASY):c.602A>G (p.Asp201Gly) GRCh37: Chr17:40715242 GRCh38: Chr17:42563224	COASY	D201G, D230G	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212872929.	NM_025233.7(COASY):c.644G>A (p.Cys215Tyr) GRCh37: Chr17:40715284 GRCh38: Chr17:42563266	COASY	C215Y, C244Y	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 211753830.	NM_025233.7(COASY):c.1486-9T>C GRCh37: Chr17:40717668 GRCh38: Chr17:42565650	COASY		Neurodegeneration with brain iron accumulation 6	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211443531.	NM_025233.7(COASY):c.946C>T (p.Gln316Ter) GRCh37: Chr17:40716494 GRCh38: Chr17:42564476	COASY	Q316, Q345	Neurodegeneration with brain iron accumulation 6	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 210559632.	NM_025233.7(COASY):c.773T>C (p.Ile258Thr) GRCh37: Chr17:40716051 GRCh38: Chr17:42564033	COASY	I258T, I287T	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 210024533.	NM_025233.7(COASY):c.670G>A (p.Val224Met) GRCh37: Chr17:40715310 GRCh38: Chr17:42563292	COASY	V224M, V253M	Neurodegeneration with brain iron accumulation 6	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 209320834.	NM_025233.7(COASY):c.658G>A (p.Glu220Lys) GRCh37: Chr17:40715298 GRCh38: Chr17:42563280	COASY	E220K, E249K	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 209295035.	NM_025233.7(COASY):c.1365G>C (p.Glu455Asp) GRCh37: Chr17:40717307 GRCh38: Chr17:42565289	COASY	E455D, E484D	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 209163536.	NM_025233.7(COASY):c.171C>T (p.Pro57=) GRCh37: Chr17:40714811 GRCh38: Chr17:42562793	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 208370437.	NM_025233.7(COASY):c.1579C>T (p.Gln527Ter) GRCh37: Chr17:40717770 GRCh38: Chr17:42565752	COASY	Q527, Q556	Neurodegeneration with brain iron accumulation 6	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 208274238.	NM_025233.7(COASY):c.447G>A (p.Ser149=) GRCh37: Chr17:40715087 GRCh38: Chr17:42563069	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 208212439.	NM_025233.7(COASY):c.1399T>C (p.Cys467Arg) GRCh37: Chr17:40717500 GRCh38: Chr17:42565482	COASY	C496R, C467R	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 208191340.	NM_025233.7(COASY):c.460T>G (p.Ser154Ala) GRCh37: Chr17:40715100 GRCh38: Chr17:42563082	COASY	S183A, S154A	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 208083541.	NM_025233.7(COASY):c.986A>G (p.Asp329Gly) GRCh37: Chr17:40716534 GRCh38: Chr17:42564516	COASY	D358G, D329G	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 208005942.	NM_025233.7(COASY):c.1302+8A>G GRCh37: Chr17:40717073 GRCh38: Chr17:42565055	COASY		Neurodegeneration with brain iron accumulation 6	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 207988743.	NM_025233.7(COASY):c.53dup (p.Ala19fs) GRCh37: Chr17:40714692-40714693 GRCh38: Chr17:42562674-42562675	COASY	A48fs, A19fs	Neurodegeneration with brain iron accumulation 6, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 14, 2022)	criteria provided, conflicting interpretations
Select item 206681344.	NM_025233.7(COASY):c.1057G>C (p.Glu353Gln) GRCh37: Chr17:40716736 GRCh38: Chr17:42564718	COASY	E353Q, E382Q	Neurodegeneration with brain iron accumulation 6	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 206488545.	NM_025233.7(COASY):c.1120A>G (p.Ile374Val) GRCh37: Chr17:40716799 GRCh38: Chr17:42564781	COASY	I374V, I403V	Neurodegeneration with brain iron accumulation 6, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 206187946.	NM_025233.7(COASY):c.239A>G (p.His80Arg) GRCh37: Chr17:40714879 GRCh38: Chr17:42562861	COASY	H109R, H80R	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 206162947.	NM_025233.7(COASY):c.1525G>C (p.Ala509Pro) GRCh37: Chr17:40717716 GRCh38: Chr17:42565698	COASY	A538P, A509P	Neurodegeneration with brain iron accumulation 6	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 205968148.	NM_025233.7(COASY):c.864C>T (p.Ser288=) GRCh37: Chr17:40716142 GRCh38: Chr17:42564124	COASY		Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 205631449.	NM_025233.7(COASY):c.1357C>G (p.Arg453Gly) GRCh37: Chr17:40717299 GRCh38: Chr17:42565281	COASY	R482G, R453G	Neurodegeneration with brain iron accumulation 6, Inborn genetic diseases	Uncertain significance (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205516250.	NM_025233.7(COASY):c.1485+7C>T GRCh37: Chr17:40717593 GRCh38: Chr17:42565575	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 205493951.	NM_025233.7(COASY):c.1098C>T (p.Ile366=) GRCh37: Chr17:40716777 GRCh38: Chr17:42564759	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 205020852.	NM_025233.7(COASY):c.1388-2A>G GRCh37: Chr17:40717487 GRCh38: Chr17:42565469	COASY		Neurodegeneration with brain iron accumulation 6, COASY-related condition	Likely pathogenic (Jan 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 205000453.	NM_025233.7(COASY):c.383C>T (p.Pro128Leu) GRCh37: Chr17:40715023 GRCh38: Chr17:42563005	COASY	P157L, P128L	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 204900254.	NM_025233.7(COASY):c.1112A>G (p.Lys371Arg) GRCh37: Chr17:40716791 GRCh38: Chr17:42564773	COASY	K371R, K400R	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 204807855.	NM_025233.7(COASY):c.701-18_701-16del GRCh37: Chr17:40715957-40715959 GRCh38: Chr17:42563939-42563941	COASY		Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 204344556.	NM_025233.7(COASY):c.1129C>T (p.Arg377Ter) GRCh37: Chr17:40716808 GRCh38: Chr17:42564790	COASY	R406, R377	Neurodegeneration with brain iron accumulation 6	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 204131157.	NM_025233.7(COASY):c.1486-12G>C GRCh37: Chr17:40717665 GRCh38: Chr17:42565647	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 204052858.	NM_025233.7(COASY):c.1485+17C>A GRCh37: Chr17:40717603 GRCh38: Chr17:42565585	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203366359.	NM_025233.7(COASY):c.1670C>T (p.Pro557Leu) GRCh37: Chr17:40717961 GRCh38: Chr17:42565943	COASY	P557L, P586L	Neurodegeneration with brain iron accumulation 6	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 203270660.	NM_025233.7(COASY):c.1048-8A>G GRCh37: Chr17:40716719 GRCh38: Chr17:42564701	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 202845761.	NM_025233.7(COASY):c.1047+13C>T GRCh37: Chr17:40716608 GRCh38: Chr17:42564590	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 201988762.	NM_025233.7(COASY):c.454C>T (p.Leu152=) GRCh37: Chr17:40715094 GRCh38: Chr17:42563076	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 201863563.	NM_025233.7(COASY):c.921G>C (p.Leu307=) GRCh37: Chr17:40716469 GRCh38: Chr17:42564451	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 201044464.	NM_025233.7(COASY):c.1009C>T (p.Arg337Cys) GRCh37: Chr17:40716557 GRCh38: Chr17:42564539	COASY	R366C, R337C	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 200973165.	NM_025233.7(COASY):c.1199G>A (p.Gly400Asp) GRCh37: Chr17:40716878 GRCh38: Chr17:42564860	COASY	G429D, G400D	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 200973066.	NM_025233.7(COASY):c.361C>G (p.Leu121Val) GRCh37: Chr17:40715001 GRCh38: Chr17:42562983	COASY	L121V, L150V	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 200605867.	NM_025233.7(COASY):c.407A>T (p.Tyr136Phe) GRCh37: Chr17:40715047 GRCh38: Chr17:42563029	COASY	Y165F, Y136F	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 199254368.	NM_025233.7(COASY):c.41C>T (p.Pro14Leu) GRCh37: Chr17:40714681 GRCh38: Chr17:42562663	COASY, LOC130060908	P14L, P43L	Neurodegeneration with brain iron accumulation 6	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 197436869.	NM_025233.7(COASY):c.1220T>C (p.Val407Ala) GRCh37: Chr17:40716899 GRCh38: Chr17:42564881	COASY	V407A, V436A	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 197353370.	NM_025233.7(COASY):c.224C>G (p.Ala75Gly) GRCh37: Chr17:40714864 GRCh38: Chr17:42562846	COASY	A75G, A104G	Inborn genetic diseases, Neurodegeneration with brain iron accumulation 6	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197321271.	NM_025233.7(COASY):c.844C>G (p.Leu282Val) GRCh37: Chr17:40716122 GRCh38: Chr17:42564104	COASY	L282V, L311V	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 197103672.	NM_025233.7(COASY):c.1633-18A>G GRCh37: Chr17:40717906 GRCh38: Chr17:42565888	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 196721473.	NM_025233.7(COASY):c.1485+19C>G GRCh37: Chr17:40717605 GRCh38: Chr17:42565587	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 196631774.	NM_025233.7(COASY):c.293C>T (p.Pro98Leu) GRCh37: Chr17:40714933 GRCh38: Chr17:42562915	COASY	P127L, P98L	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 196112175.	NM_025233.7(COASY):c.417C>T (p.Ser139=) GRCh37: Chr17:40715057 GRCh38: Chr17:42563039	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 195761276.	NM_025233.7(COASY):c.292C>T (p.Pro98Ser) GRCh37: Chr17:40714932 GRCh38: Chr17:42562914	COASY	P98S, P127S	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 195630577.	NM_025233.7(COASY):c.54A>G (p.Leu18=) GRCh37: Chr17:40714694 GRCh38: Chr17:42562676	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 193901378.	NM_025233.7(COASY):c.971_972inv (p.Thr324Met) GRCh37: Chr17:40716519-40716520 GRCh38: Chr17:42564501-42564502	COASY	T324M, T353M	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 192589079.	NM_025233.7(COASY):c.1020G>A (p.Met340Ile) GRCh37: Chr17:40716568 GRCh38: Chr17:42564550	COASY	M340I, M369I	Neurodegeneration with brain iron accumulation 6	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 190870680.	NM_025233.7(COASY):c.63C>T (p.Arg21=) GRCh37: Chr17:40714703 GRCh38: Chr17:42562685	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 190421781.	NM_025233.7(COASY):c.1653C>T (p.Leu551=) GRCh37: Chr17:40717944 GRCh38: Chr17:42565926	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 190180282.	NM_025233.7(COASY):c.1091C>T (p.Thr364Ile) GRCh37: Chr17:40716770 GRCh38: Chr17:42564752	COASY	T364I, T393I	Inborn genetic diseases, Neurodegeneration with brain iron accumulation 6	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 189929283.	NM_025233.7(COASY):c.383del (p.Pro128fs) GRCh37: Chr17:40715021 GRCh38: Chr17:42563003	COASY	P128fs, P157fs	Neurodegeneration with brain iron accumulation 6	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 189703284.	NM_025233.7(COASY):c.905G>A (p.Arg302His) GRCh37: Chr17:40716183 GRCh38: Chr17:42564165	COASY	R302H, R331H	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 187861985.	NM_025233.7(COASY):c.688G>T (p.Asp230Tyr) GRCh37: Chr17:40715328 GRCh38: Chr17:42563310	COASY	D230Y, D259Y	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180110886.	NM_025233.7(COASY):c.1036C>T (p.Arg346Trp) GRCh37: Chr17:40716584 GRCh38: Chr17:42564566	COASY	R346W, R375W	Neurodegeneration with brain iron accumulation 6, not provided	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171699987.	NM_025233.7(COASY):c.884G>C (p.Gly295Ala) GRCh37: Chr17:40716162 GRCh38: Chr17:42564144	COASY	G295A, G324A	Neurodegeneration with brain iron accumulation 6	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 167234088.	NM_025233.7(COASY):c.1398G>A (p.Val466=) GRCh37: Chr17:40717499 GRCh38: Chr17:42565481	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 167144589.	NM_025233.7(COASY):c.1238-16T>C GRCh37: Chr17:40716985 GRCh38: Chr17:42564967	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 167142390.	NM_025233.7(COASY):c.1413C>T (p.Ala471=) GRCh37: Chr17:40717514 GRCh38: Chr17:42565496	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 163504591.	NM_025233.7(COASY):c.1387+11G>A GRCh37: Chr17:40717340 GRCh38: Chr17:42565322	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 159685292.	NM_025233.7(COASY):c.210C>T (p.His70=) GRCh37: Chr17:40714850 GRCh38: Chr17:42562832	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 159043993.	NM_025233.7(COASY):c.121C>T (p.Leu41=) GRCh37: Chr17:40714761 GRCh38: Chr17:42562743	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 159037094.	NM_025233.7(COASY):c.1486-6G>A GRCh37: Chr17:40717671 GRCh38: Chr17:42565653	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 158387595.	NM_025233.7(COASY):c.402G>T (p.Val134=) GRCh37: Chr17:40715042 GRCh38: Chr17:42563024	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 158376296.	NM_025233.7(COASY):c.1486-12G>A GRCh37: Chr17:40717665 GRCh38: Chr17:42565647	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 158220297.	NM_025233.7(COASY):c.597G>A (p.Thr199=) GRCh37: Chr17:40715237 GRCh38: Chr17:42563219	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Feb 3, 2021)	criteria provided, single submitter
Select item 158094998.	NM_025233.7(COASY):c.1689C>T (p.Leu563=) GRCh37: Chr17:40717980 GRCh38: Chr17:42565962	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 156990899.	NM_025233.7(COASY):c.1388-8C>T GRCh37: Chr17:40717481 GRCh38: Chr17:42565463	COASY		Neurodegeneration with brain iron accumulation 6, not provided	Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1560988100.	NM_025233.7(COASY):c.885G>A (p.Gly295=) GRCh37: Chr17:40716163 GRCh38: Chr17:42564145	COASY		Neurodegeneration with brain iron accumulation 6	Likely benign (Nov 1, 2021)	criteria provided, single submitter

<< First< Prev

Page of 3