ClinVar for Gene (Select 84842) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284718	NM_032756.4(HPDL):c.210T>G (p.Asp70Glu)	HPDL (D70E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284717	NM_032756.4(HPDL):c.814G>A (p.Gly272Arg)	HPDL (G272R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3256610	NM_032756.4(HPDL):c.1066G>C (p.Ala356Pro)	HPDL (A356P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GLikely pathogenic
Select item 3106794	NM_032756.4(HPDL):c.915T>G (p.His305Gln)	HPDL, LOC129930440 (H305Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106793	NM_032756.4(HPDL):c.698C>T (p.Ser233Phe)	HPDL (S233F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106792	NM_032756.4(HPDL):c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC (p.Leu234fs)	HPDL (L234fs)	Insertion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3106791	NM_032756.4(HPDL):c.592G>A (p.Glu198Lys)	HPDL (E198K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106790	NM_032756.4(HPDL):c.561C>G (p.Cys187Trp)	HPDL (C187W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106789	NM_032756.4(HPDL):c.506C>T (p.Thr169Ile)	HPDL (T169I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106788	NM_032756.4(HPDL):c.339G>C (p.Gln113His)	HPDL (Q113H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106787	NM_032756.4(HPDL):c.32T>C (p.Ile11Thr)	HPDL, LOC129930439 (I11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106786	NM_032756.4(HPDL):c.275C>T (p.Thr92Ile)	HPDL (T92I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106785	NM_032756.4(HPDL):c.151G>A (p.Asp51Asn)	HPDL (D51N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068235	NM_032756.4(HPDL):c.652C>G (p.Gln218Glu)	HPDL (Q218E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 3068170	NM_032756.4(HPDL):c.1058A>T (p.Asn353Ile)	HPDL (N353I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 3034879	NM_032756.4(HPDL):c.960G>C (p.Lys320Asn)	HPDL (K320N)	Single nucleotide variant (missense variant)	HPDL-related disorder	GLikely benign
Select item 2685800	GRCh37/hg19 1p34.1(chr1:45665404-45955823)x3	HPDL, MUTYH +3 more	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2664672	NM_032756.4(HPDL):c.576C>G (p.Ser192Arg)	HPDL (S192R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2662287	NM_032756.4(HPDL):c.231C>A (p.Ser77Arg)	HPDL (S77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638790	NM_032756.4(HPDL):c.1065A>G (p.Arg355=)	HPDL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2638789	NM_032756.4(HPDL):c.995C>T (p.Thr332Ile)	HPDL (T332I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638788	NM_032756.4(HPDL):c.879G>A (p.Lys293=)	HPDL, LOC129930440	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2638787	NM_032756.4(HPDL):c.750G>C (p.Arg250=)	HPDL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638786	NM_032756.4(HPDL):c.421C>G (p.Pro141Ala)	HPDL (P141A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536549	NM_032756.4(HPDL):c.214C>A (p.Arg72Ser)	HPDL (R72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498404	NM_032756.4(HPDL):c.852del (p.Ala286fs)	HPDL, LOC129930440 (A286fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2430273	NM_032756.4(HPDL):c.232G>T (p.Ala78Ser)	HPDL (A78S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2394883	NM_032756.4(HPDL):c.875G>A (p.Gly292Glu)	HPDL, LOC129930440 (G292E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2390183	NM_032756.4(HPDL):c.749G>A (p.Arg250Gln)	HPDL (R250Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389616	NM_032756.4(HPDL):c.759dup (p.Pro254fs)	HPDL (P254fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2358911	NM_032756.4(HPDL):c.238A>G (p.Asn80Asp)	HPDL (N80D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340274	NM_032756.4(HPDL):c.572T>C (p.Leu191Pro)	HPDL (L191P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329954	NM_032756.4(HPDL):c.656C>T (p.Ala219Val)	HPDL (A219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329563	NM_032756.4(HPDL):c.814G>C (p.Gly272Arg)	HPDL (G272R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2319524	NM_032756.4(HPDL):c.763G>C (p.Gly255Arg)	HPDL (G255R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302879	NM_032756.4(HPDL):c.163_164del (p.Leu55fs)	HPDL (L55fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2221909	NM_032756.4(HPDL):c.789del (p.Pro264fs)	HPDL (P264fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1802210	NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)	HPDL (D40A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1697219	NM_032756.4(HPDL):c.147C>A (p.Ser49Arg)	HPDL (S49R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1694510	NM_032756.4(HPDL):c.1017G>A (p.Glu339=)	HPDL	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more	GLikely benign
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1683729	NM_032756.4(HPDL):c.134T>A (p.Leu45Gln)	HPDL (L45Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1455311	NC_000001.10:g.(?_45793451)_(45798111_?)del	HPDL, MUTYH	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 1344865	NM_032756.4(HPDL):c.110G>C (p.Arg37Pro)	HPDL (R37P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344864	NM_032756.4(HPDL):c.1072T>G (p.Trp358Gly)	HPDL (W358G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344862	NM_032756.4(HPDL):c.692C>G (p.Ala231Gly)	HPDL (A231G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344861	NM_032756.4(HPDL):c.835C>T (p.Gln279Ter)	HPDL (Q279*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 1344860	NM_032756.4(HPDL):c.679del (p.Thr227fs)	HPDL (T227fs)	Deletion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344859	NM_032756.4(HPDL):c.650T>C (p.Leu217Pro)	HPDL (L217P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344858	NM_032756.4(HPDL):c.995del (p.Thr332fs)	HPDL (T332fs)	Deletion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344857	NM_032756.4(HPDL):c.523_529del (p.Thr175fs)	HPDL (T175fs)	Deletion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344856	NM_032756.4(HPDL):c.816_817del (p.Val273fs)	HPDL (V273fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1344855	NM_032756.4(HPDL):c.3G>C (p.Met1Ile)	HPDL, LOC129930439 (M1I)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GPathogenic
Select item 1344854	NM_032756.4(HPDL):c.493A>C (p.Thr165Pro)	HPDL (T165P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344853	NM_032756.4(HPDL):c.27C>A (p.Cys9Ter)	HPDL, LOC129930439 (C9*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GLikely pathogenic
Select item 1344852	NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs)	HPDL (Q257fs)	Indel (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344851	NM_032756.4(HPDL):c.847C>T (p.Pro283Ser)	HPDL (P283S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344850	NM_032756.4(HPDL):c.859T>C (p.Tyr287His)	HPDL, LOC129930440 (Y287H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1344849	NM_032756.4(HPDL):c.788C>G (p.Thr263Arg)	HPDL (T263R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344848	NM_032756.4(HPDL):c.518C>A (p.Ser173Tyr)	HPDL (S173Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344847	NM_032756.4(HPDL):c.418G>A (p.Gly140Arg)	HPDL (G140R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 1328237	NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro)	HPDL (L338P)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 1327472	NM_032756.4(HPDL):c.599del (p.Gly200fs)	HPDL (G200fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 1326910	NM_032756.4(HPDL):c.800dup (p.Glu268fs)	HPDL (E268fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1326909	NM_032756.4(HPDL):c.736C>T (p.Gln246Ter)	HPDL (Q246*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1321134	NM_032756.4(HPDL):c.529_530del (p.Leu177fs)	HPDL (L177fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1320816	NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)	HPDL (P190L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1227618	NM_032756.4(HPDL):c.*79G>A	HPDL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224496	NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)	HPDL (Q32*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1224495	NM_032756.4(HPDL):c.954dup (p.Gly319fs)	HPDL, LOC129930440 (G319fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 1224494	NM_032756.4(HPDL):c.232G>A (p.Ala78Thr)	HPDL (A78T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1224493	NM_032756.4(HPDL):c.353dup (p.Tyr118Ter)	HPDL (Y118*)	Duplication (nonsense)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 1202640	NM_032756.4(HPDL):c.797T>C (p.Ile266Thr)	HPDL	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1202639	NM_032756.4(HPDL):c.256del (p.Ala86fs)	HPDL (A86fs)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1184996	NM_032756.4(HPDL):c.527T>C (p.Leu176Pro)	HPDL (L176P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 1184982	NM_032756.4(HPDL):c.832G>A (p.Gly278Ser)	HPDL (G278S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1184981	NM_032756.4(HPDL):c.91T>C (p.Phe31Leu)	HPDL (F31L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1184733	NM_032756.4(HPDL):c.[832G>A;91T>C]	HPDL (F31L +1 more)	Single nucleotide variant (missense variant)	Spastic ataxia	GPathogenic
Select item 986813	NM_032756.4(HPDL):c.753C>A (p.His251Gln)	HPDL (H251Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 986812	NM_032756.4(HPDL):c.469T>C (p.Trp157Arg)	HPDL (W157R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more	GConflicting classifications of pathogenicity
Select item 982398	NM_032756.4(HPDL):c.342_345dup (p.Ala116fs)	HPDL (A116fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely pathogenic
Select item 982397	NM_032756.4(HPDL):c.788C>T (p.Thr263Met)	HPDL (T263M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely pathogenic
Select item 979212	NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)	HPDL (G50D)	Single nucleotide variant (missense variant)	Spastic paraplegia 83, autosomal recessive +2 more	GPathogenic
Select item 979211	NM_032756.4(HPDL):c.537G>C (p.Trp179Cys)	HPDL (W179C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 979210	NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr)	HPDL (C168Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 979209	NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter)	HPDL (Q342*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 979208	NM_032756.4(HPDL):c.779G>A (p.Gly260Glu)	HPDL (G260E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 979207	NM_032756.4(HPDL):c.342_343insTGCC (p.Ala115fs)	HPDL (A115fs)	Insertion (frameshift variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GPathogenic
Select item 830540	NC_000001.11:g.(?_44822405)_(45340264_?)dup	MUTYH, PTCH2 +6 more	Duplication	Familial adenomatous polyposis 2	GUncertain significance
Select item 814071	GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1	MUTYH, PRDX1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441702	GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3	AKR1A1, CCDC17 +11 more	Copy number gain	See cases	GUncertain significance
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance

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Items: 100