ClinVar for MedGen (Select 444156) - ClinVar

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Items: 44

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25773351.	NM_031448.6(C19orf12):c.267del (p.Phe89fs) GRCh37: Chr19:30193778 GRCh38: Chr19:29702871	C19orf12	F25fs, F89fs	Neurodegeneration with brain iron accumulation	Pathogenic (Jul 12, 2023)	criteria provided, single submitter
Select item 25012442.	NM_022089.4(ATP13A2):c.1600C>T (p.Gln534Ter) GRCh37: Chr1:17320273 GRCh38: Chr1:16993778	ATP13A2	Q529, Q534	Neurodegeneration with brain iron accumulation	Likely pathogenic (Mar 13, 2023)	criteria provided, single submitter
Select item 25011453.	NM_003560.4(PLA2G6):c.1743-2A>G GRCh37: Chr22:38512220 GRCh38: Chr22:38116213	PLA2G6		Neurodegeneration with brain iron accumulation	Likely pathogenic (Mar 29, 2023)	criteria provided, single submitter
Select item 24458264.	NM_025000.4(DCAF17):c.499_500insGA (p.Lys167fs) GRCh37: Chr2:172306428-172306429 GRCh38: Chr2:171449918-171449919	DCAF17	K167fs	Neurodegeneration with brain iron accumulation	Likely pathogenic (Feb 13, 2023)	criteria provided, single submitter
Select item 21384475.	NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys) GRCh37: Chr22:38508536 GRCh38: Chr22:38112529	PLA2G6	E519K, E573K, E697K, E525K, E751K	not provided, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy	Conflicting interpretations of pathogenicity (Jul 24, 2023)	criteria provided, conflicting interpretations
Select item 20466476.	NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter) GRCh37: Chr1:17326961 GRCh38: Chr1:17000466	ATP13A2	W253, W258	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Neurodegeneration with brain iron accumulation	Pathogenic (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18782907.	NM_022089.4(ATP13A2):c.3281del (p.Gly1094fs) GRCh37: Chr1:17313082 GRCh38: Chr1:16986587	ATP13A2	G1089fs, G1094fs	Neurodegeneration with brain iron accumulation	Likely pathogenic (Dec 12, 2022)	criteria provided, single submitter
Select item 17224628.	NM_025233.7(COASY):c.1068_1069del (p.Cys357fs) GRCh37: Chr17:40716747-40716748 GRCh38: Chr17:42564729-42564730	COASY	C357fs, C386fs	Neurodegeneration with brain iron accumulation	Likely pathogenic (Sep 4, 2022)	criteria provided, single submitter
Select item 17050549.	NM_003560.4(PLA2G6):c.1294del (p.His432fs) GRCh37: Chr22:38524330 GRCh38: Chr22:38128323	PLA2G6	H206fs, H254fs, H432fs	Neurodegeneration with brain iron accumulation	Likely pathogenic (Aug 8, 2022)	criteria provided, single submitter
Select item 170463810.	NC_000003.11:g.(?_148890285)_(148939833_?)del GRCh37: Chr3:148890285-148939833	CP, HPS3		Neurodegeneration with brain iron accumulation	Likely pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 170143911.	NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) GRCh37: Chr22:38536118 GRCh38: Chr22:38140111	PLA2G6	P223L, P45L	Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation, not provided, Neurodegeneration with brain iron accumulation 2B	Conflicting interpretations of pathogenicity (Oct 27, 2023)	criteria provided, conflicting interpretations
Select item 169862812.	NM_025233.7(COASY):c.492del (p.Glu164fs) GRCh37: Chr17:40715132 GRCh38: Chr17:42563114	COASY	E164fs, E193fs	Neurodegeneration with brain iron accumulation	Likely pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 167936113.	NM_025000.4(DCAF17):c.1488_1489del (p.Arg496fs) GRCh37: Chr2:172337547-172337548 GRCh38: Chr2:171481037-171481038	DCAF17	R429fs, R496fs	Neurodegeneration with brain iron accumulation, Woodhouse-Sakati syndrome	Pathogenic/Likely pathogenic (Jun 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151128614.	NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) GRCh37: Chr22:38536106 GRCh38: Chr22:38140099	PLA2G6	A49V, A227V	Neurodegeneration with brain iron accumulation, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy	Conflicting interpretations of pathogenicity (Oct 27, 2023)	criteria provided, conflicting interpretations
Select item 119756815.	NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) GRCh37: Chr22:38512163 GRCh38: Chr22:38116156	PLA2G6	R368W, R374W, R422W, R546W, R600W	not provided, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 117728816.	NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter) GRCh37: Chr22:38508302 GRCh38: Chr22:38112295	PLA2G6	Q531, Q537, Q585, Q709, Q763*	PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation	Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98534217.	NM_003560.4(PLA2G6):c.1427+1G>C GRCh37: Chr22:38522377 GRCh38: Chr22:38126370	PLA2G6		Neurodegeneration with brain iron accumulation, Inborn genetic diseases	Likely pathogenic (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94846718.	NM_024306.5(FA2H):c.806G>A (p.Arg269His) GRCh37: Chr16:74750478 GRCh38: Chr16:74716580	FA2H	R269H	Spastic paraplegia, not provided, Neurodegeneration with brain iron accumulation, Hereditary spastic paraplegia 35	Pathogenic/Likely pathogenic (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61748119.	NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) GRCh37: Chr19:30193884 GRCh38: Chr19:29702977	C19orf12	G54E, G65E	Neurodegeneration with brain iron accumulation, Hereditary spastic paraplegia 43, not provided	Pathogenic/Likely pathogenic (Mar 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59934220.	NM_025233.7(COASY):c.1549_1550del (p.Ser517fs) GRCh37: Chr17:40717738-40717739 GRCh38: Chr17:42565720-42565721	COASY	S517fs, S546fs	not provided, Neurodegeneration with brain iron accumulation	Pathogenic/Likely pathogenic (May 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56108321.	NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg) GRCh37: Chr22:38528876 GRCh38: Chr22:38132869	PLA2G6	G347R, G169R, G121R	Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy	Pathogenic (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 54659122.	NM_022089.4(ATP13A2):c.477+2T>G GRCh37: Chr1:17331185 GRCh38: Chr1:17004690	ATP13A2		Inborn genetic diseases, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, not provided, Neurodegeneration with brain iron accumulation	Pathogenic/Likely pathogenic (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50350423.	NM_001286611.2(REPS1):c.338C>A (p.Ala113Glu) GRCh37: Chr6:139266774 GRCh38: Chr6:138945637	REPS1	A113E	Neurodegeneration with brain iron accumulation	Pathogenic (May 2, 2016)	criteria provided, single submitter
Select item 50349524.	NM_000755.5(CRAT):c.962G>A (p.Arg321His) GRCh37: Chr9:131862812 GRCh38: Chr9:129100533	CRAT	R321H, R281H, R300H, R322H	not provided, Neurodegeneration with brain iron accumulation 8, Neurodegeneration with brain iron accumulation	Conflicting interpretations of pathogenicity (Jul 17, 2022)	criteria provided, conflicting interpretations
Select item 46525325.	NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) GRCh37: Chr1:17313567 GRCh38: Chr1:16987072	ATP13A2	Y1020fs, Y976fs, Y1015fs	not provided, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78, Neurodegeneration with brain iron accumulation, Kufor-Rakeb syndrome, Inborn genetic diseases	Pathogenic/Likely pathogenic (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45830526.	NM_024306.5(FA2H):c.131C>A (p.Pro44Gln) GRCh37: Chr16:74808523 GRCh38: Chr16:74774625	FA2H, LOC130059394	P44Q	Spastic paraplegia, Neurodegeneration with brain iron accumulation	Pathogenic/Likely pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43111327.	NM_000096.4(CP):c.2756T>C (p.Leu919Pro) GRCh37: Chr3:148896324 GRCh38: Chr3:149178537	CP	L919P	Neurodegeneration with brain iron accumulation, Deficiency of ferroxidase	Pathogenic/Likely pathogenic (Mar 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42105728.	NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) GRCh37: Chr17:40717494-40717495 GRCh38: Chr17:42565476-42565477	COASY	I469, I498	not provided, Neurodegeneration with brain iron accumulation, COASY-related condition, Inborn genetic diseases, Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6, Pontocerebellar hypoplasia, type 12	Conflicting interpretations of pathogenicity (Apr 14, 2023)	criteria provided, conflicting interpretations
Select item 26550829.	NM_001029896.2(WDR45):c.827+1G>A GRCh37: ChrX:48933022 GRCh38: ChrX:49075363	WDR45		not provided, Neurodegeneration with brain iron accumulation 5	Pathogenic (Oct 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 26544830.	NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) GRCh37: Chr22:38508566 GRCh38: Chr22:38112559	PLA2G6	R741W, R509W, R515W, R687W, R563W	Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy, not provided	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18330231.	NM_003560.4(PLA2G6):c.1911del (p.Ser637fs) GRCh37: Chr22:38511657 GRCh38: Chr22:38115650	PLA2G6	S405fs, S583fs, S411fs, S459fs, S637fs	Neurodegeneration with brain iron accumulation	Likely pathogenic (Dec 1, 2014)	no assertion criteria provided
Select item 15977732.	NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) GRCh37: Chr22:38536046-38536057 GRCh38: Chr22:38140039-38140050	PLA2G6		PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation, not provided, Iron accumulation in brain	Conflicting interpretations of pathogenicity (Sep 18, 2023)	criteria provided, conflicting interpretations
Select item 15974833.	NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) GRCh37: Chr22:38512162 GRCh38: Chr22:38116155	PLA2G6	R600Q, R374Q, R546Q, R368Q, R422Q	Neurodegeneration with brain iron accumulation, not provided, Inborn genetic diseases, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14, Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Infantile osteopetrosis with neuroaxonal dysplasia, PLA2G6-associated neurodegeneration, Iron accumulation in brain ...see more	Pathogenic/Likely pathogenic (May 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 15974134.	NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) GRCh37: Chr22:38516874 GRCh38: Chr22:38120867	PLA2G6	K545R, K313R, K319R, K491R, K367R	PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation, Iron accumulation in brain	Pathogenic/Likely pathogenic (Aug 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10066235.	NM_025233.7(COASY):c.1495C>T (p.Arg499Cys) GRCh37: Chr17:40717686 GRCh38: Chr17:42565668	COASY	R499C, R528C	Neurodegeneration with brain iron accumulation 6, not provided, Neurodegeneration with brain iron accumulation	Pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8886636.	NM_001031726.4(C19orf12):c.164_166delGGG GRCh37: Chr19:30193879-30193881 GRCh38: Chr19:29702972-29702974	C19orf12		not provided, Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation 4	Pathogenic/Likely pathogenic (Mar 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4214337.	NM_000096.4(CP):c.2066del (p.Pro689fs) GRCh37: Chr3:148904318 GRCh38: Chr3:149186531	CP	P689fs	Neurodegeneration with brain iron accumulation, Deficiency of ferroxidase	Pathogenic/Likely pathogenic (Dec 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3115738.	NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) GRCh37: Chr19:30193873 GRCh38: Chr19:29702966	C19orf12	G69R, G58R	Hereditary spastic paraplegia 43, not provided, Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation 4, Dystonic disorder, Adult-onset night blindness, Peripheral visual field loss, Mental deterioration, Tremor	Pathogenic/Likely pathogenic (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3115539.	NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) GRCh37: Chr19:30193864-30193874 GRCh38: Chr19:29702957-29702967	C19orf12	G58fs, G69fs	Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation, not provided	Pathogenic/Likely pathogenic (Mar 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3087240.	NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) GRCh37: Chr16:74761188 GRCh38: Chr16:74727290	FA2H	R154C	Spastic paraplegia, not provided, Neurodegeneration with brain iron accumulation, Hereditary spastic paraplegia 35	Conflicting interpretations of pathogenicity (Jun 16, 2023)	criteria provided, conflicting interpretations
Select item 620341.	NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) GRCh37: Chr22:38508565 GRCh38: Chr22:38112558	PLA2G6	R741Q, R515Q, R687Q, R509Q, R563Q	Autosomal recessive Parkinson disease 14, Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, not provided, Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14	Pathogenic/Likely pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 619942.	NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) GRCh37: Chr22:38511674 GRCh38: Chr22:38115667	PLA2G6	R632W, R400W, R406W, R454W, R578W	PLA2G6-associated neurodegeneration, not provided, Neurodegeneration with brain iron accumulation	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 619843.	NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) GRCh37: Chr22:38509624-38509626 GRCh38: Chr22:38113617-38113619	PLA2G6	V691del, V465del, V513del, V459del, V637del	not provided, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Iron accumulation in brain	Pathogenic (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 619544.	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) GRCh37: Chr22:38508219 GRCh38: Chr22:38112212	PLA2G6	Y790, Y558, Y564, Y612, Y736*	PLA2G6-related condition, Autism, Seizure, PLA2G6-associated neurodegeneration, not provided, Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Iron accumulation in brain, Inborn genetic diseases, Abnormality of the nervous systemInfantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14, ...see more	Conflicting interpretations of pathogenicity (Sep 23, 2023)	criteria provided, conflicting interpretations

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Items: 44