ClinVar for Gene (Select 5621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253499	NM_000311.5(PRNP):c.88G>A (p.Gly30Arg)	PRNP (G30R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	ADAM33, ADISSP +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3030199	NM_000311.5(PRNP):c.*5G>A	PRNP	Single nucleotide variant (3 prime UTR variant)	PRNP-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	XRN2, ZCCHC3 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	RASSF2, SHLD1 +114 more	Copy number gain	not provided	GPathogenic
Select item 3013268	NM_000311.5(PRNP):c.480A>G (p.Gln160=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 2887039	NM_000311.5(PRNP):c.423C>T (p.Phe141=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 2885908	NM_000311.5(PRNP):c.674A>G (p.Tyr225Cys)	PRNP (Y225C)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2820202	NM_000311.5(PRNP):c.654C>G (p.Tyr218Ter)	PRNP (Y218*)	Single nucleotide variant (nonsense +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2815837	NM_000311.5(PRNP):c.350_351inv (p.Ala117Val)	PRNP (A117V)	Inversion (missense variant +1 more)	Huntington disease-like 1	GPathogenic
Select item 2728179	NM_000311.5(PRNP):c.749T>C (p.Leu250Pro)	PRNP (L250P)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2727133	NM_000311.5(PRNP):c.54C>T (p.Asp18=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 2721757	NM_000311.5(PRNP):c.487T>C (p.Tyr163His)	PRNP (Y163H)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2683528	NM_000311.5(PRNP):c.180TCATGGTGGTGGCTGGGGGCAGCC[3] (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln)	PRNP	Microsatellite (inframe insertion)	not provided	GUncertain significance
Select item 2652193	NM_000311.5(PRNP):c.705CTC[1] (p.Ser237del)	PRNP (S237del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2578908	NM_000311.5(PRNP):c.432C>G (p.Asp144Glu)	PRNP (D144E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571133	NM_000311.5(PRNP):c.78G>A (p.Pro26=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2504199	NM_000311.5(PRNP):c.661G>A (p.Glu221Lys)	PRNP (E221K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2419391	NM_000311.5(PRNP):c.546C>G (p.Ile182Met)	PRNP (I182M)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2338908	NM_000311.5(PRNP):c.286C>G (p.His96Asp)	PRNP (H96D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318704	NM_000311.5(PRNP):c.214G>C (p.Gly72Arg)	PRNP (G72R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207104	NM_000311.5(PRNP):c.110G>A (p.Arg37Gln)	PRNP (R37Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200075	NM_000311.5(PRNP):c.715C>T (p.Pro239Ser)	PRNP (P239S)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2193800	NM_000311.5(PRNP):c.393A>G (p.Gly131=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 2185939	NM_000311.5(PRNP):c.402G>C (p.Met134Ile)	PRNP (M134I)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2167988	NM_000311.5(PRNP):c.138C>T (p.Gly46=)	PRNP (Q17*)	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2153666	NM_000311.5(PRNP):c.451C>T (p.Arg151Cys)	PRNP (R151C)	Single nucleotide variant (3 prime UTR variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2138330	NM_000311.5(PRNP):c.563C>G (p.Thr188Arg)	PRNP (T188R)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GLikely pathogenic
Select item 2081760	NM_000311.5(PRNP):c.452G>A (p.Arg151His)	PRNP (R151H)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2053967	NM_000311.5(PRNP):c.74G>A (p.Arg25His)	PRNP (R25H)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2048991	NM_000311.5(PRNP):c.563C>T (p.Thr188Met)	PRNP (T188M)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2042593	NM_000311.5(PRNP):c.446dup (p.Tyr149Ter)	PRNP (Y149*)	Duplication (nonsense +1 more)	Huntington disease-like 1	GUncertain significance
Select item 2021683	NM_000311.5(PRNP):c.227_228insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln)	PRNP	Microsatellite (inframe_insertion)	Huntington disease-like 1	GUncertain significance
Select item 2004547	NM_000311.5(PRNP):c.6G>A (p.Ala2=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1980378	NM_000311.5(PRNP):c.120G>A (p.Gly40=)	PRNP (A11T)	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GBenign
Select item 1928151	NM_000311.5(PRNP):c.564G>A (p.Thr188=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1907907	NM_000311.5(PRNP):c.505T>C (p.Tyr169His)	PRNP (Y169H)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1906531	NM_000311.5(PRNP):c.441C>T (p.Asp147=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1722211	NM_000311.5(PRNP):c.278G>A (p.Gly93Asp)	PRNP (G93D)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1707842	NM_000311.5(PRNP):c.696G>T (p.Met232Ile)	PRNP (M232I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1705547	NM_000311.5(PRNP):c.206A>T (p.His69Leu)	PRNP (H69L)	Single nucleotide variant (missense variant +1 more)	Gerstmann-Straussler-Scheinker syndrome	GUncertain significance
Select item 1704710	NM_000311.5(PRNP):c.473C>T (p.Pro158Leu)	PRNP (P158L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1685039	NM_000311.5(PRNP):c.414C>G (p.Ile138Met)	PRNP (I138M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1677056	NM_000311.5(PRNP):c.714_716del (p.Pro239del)	PRNP (P239del)	Deletion (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 1617003	NM_000311.5(PRNP):c.228_251del (p.60PHGGGWGQ[3])	PRNP	Deletion (inframe_deletion)	Huntington disease-like 1 +1 more	GLikely benign
Select item 1607151	NM_000311.5(PRNP):c.225G>A (p.Gln75=)	PRNP (A46T)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1606105	NM_000311.5(PRNP):c.57G>A (p.Leu19=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1596929	NM_000311.5(PRNP):c.408G>A (p.Arg136=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1576403	NM_000311.5(PRNP):c.507C>T (p.Tyr169=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1576397	NM_000311.5(PRNP):c.636G>A (p.Gln212=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1 +5 more	GLikely benign
Select item 1571960	NM_000311.5(PRNP):c.591C>T (p.Asn197=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1571531	NM_000311.5(PRNP):c.537C>T (p.Cys179=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1570377	NM_000311.5(PRNP):c.531C>T (p.His177=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1562637	NM_000311.5(PRNP):c.384_385inv (p.Met129Val)	PRNP (M129V)	Inversion (missense variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1556415	NM_000311.5(PRNP):c.117G>A (p.Pro39=)	PRNP (G10R)	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1539263	NM_000311.5(PRNP):c.333C>T (p.His111=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1531275	NM_000311.5(PRNP):c.603C>T (p.Thr201=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign
Select item 1510828	NM_000311.5(PRNP):c.407G>C (p.Arg136Thr)	PRNP (R136T)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1507942	NM_000311.5(PRNP):c.443G>A (p.Arg148His)	PRNP (R148H)	Single nucleotide variant (missense variant +1 more)	Inherited Creutzfeldt-Jakob disease +1 more	GLikely pathogenic
Select item 1503725	NM_000311.5(PRNP):c.408G>T (p.Arg136Ser)	PRNP (R136S)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1496978	NM_000311.5(PRNP):c.493C>T (p.Pro165Ser)	PRNP (P165S)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1496345	NM_000311.5(PRNP):c.222_245del (p.60PHGGGWGQ[3])	PRNP	Deletion (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 1495663	NM_000311.5(PRNP):c.86G>A (p.Gly29Glu)	PRNP (G29E)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1474931	NM_000311.5(PRNP):c.755T>C (p.Val252Ala)	PRNP (V252A)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1468083	NM_000311.5(PRNP):c.498G>A (p.Met166Ile)	PRNP (M166I)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +5 more	GUncertain significance
Select item 1422522	NM_000311.5(PRNP):c.620A>G (p.Glu207Gly)	PRNP (E207G)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1409869	NM_000311.5(PRNP):c.622C>T (p.Arg208Cys)	PRNP (R208C)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1409171	NM_000311.5(PRNP):c.625G>A (p.Val209Met)	PRNP (V209M)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1	GUncertain significance
Select item 1398824	NM_000311.5(PRNP):c.452G>T (p.Arg151Leu)	PRNP (R151L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1335458	NM_000311.5(PRNP):c.483G>A (p.Val161=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1334094	NM_000311.5(PRNP):c.392G>A (p.Gly131Glu)	PRNP (G131E)	Single nucleotide variant (missense variant +1 more)	Gerstmann-Straussler-Scheinker syndrome	GLikely pathogenic
Select item 1326274	NM_000311.5(PRNP):c.635A>C (p.Gln212Pro)	PRNP (Q212P)	Single nucleotide variant (missense variant +1 more)	Gerstmann-Straussler-Scheinker syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1318742	NM_000311.5(PRNP):c.467G>A (p.Arg156His)	PRNP (R156H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1301536	NM_000311.5(PRNP):c.713C>T (p.Pro238Leu)	PRNP (P238L)	Single nucleotide variant (missense variant +1 more)	Vascular dementia	GUncertain significance
Select item 1236587	NM_000311.5(PRNP):c.-10-21G>A	PRNP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234141	NC_000020.11:g.4701861C>T	PRNP	Single nucleotide variant	not provided	GBenign
Select item 1005336	NM_000311.5(PRNP):c.290G>A (p.Ser97Asn)	PRNP (S97N)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +1 more	GUncertain significance
Select item 979727	GRCh37/hg19 20p13(chr20:3092739-4939933)x3	CDC25B, ADAM33 +25 more	Copy number gain	not provided	GUncertain significance
Select item 899237	NM_000311.5(PRNP):c.*482A>G	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GBenign
Select item 899178	NM_000311.5(PRNP):c.116C>T (p.Pro39Leu)	PRNP (P39L)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +1 more	GConflicting classifications of pathogenicity
Select item 899177	NM_000311.5(PRNP):c.76C>G (p.Pro26Ala)	PRNP (P26A)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease	GUncertain significance
Select item 899176	NM_000311.5(PRNP):c.5C>T (p.Ala2Val)	PRNP (A2V)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +1 more	GConflicting classifications of pathogenicity
Select item 898128	NM_000311.5(PRNP):c.*460G>T	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 896505	NM_000311.5(PRNP):c.654C>T (p.Tyr218=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 896504	NM_000311.5(PRNP):c.565G>A (p.Val189Ile)	PRNP (V189I)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease +1 more	GUncertain significance
Select item 896503	NM_000311.5(PRNP):c.497T>C (p.Met166Thr)	PRNP (M166T)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease	GUncertain significance
Select item 895125	NM_000311.5(PRNP):c.*1328T>C	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 895124	NM_000311.5(PRNP):c.*1134T>A	PRNP	Single nucleotide variant (3 prime UTR variant)	Inherited prion disease	GUncertain significance
Select item 895060	NM_000311.5(PRNP):c.143G>A (p.Arg48His)	PRNP (R48H)	Single nucleotide variant (missense variant +1 more)	Inherited prion disease +1 more	GUncertain significance
Select item 871373	NM_000311.5(PRNP):c.606C>T (p.Asp202=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1 +1 more	GConflicting classifications of pathogenicity
Select item 871372	NM_000311.5(PRNP):c.50G>C (p.Ser17Thr)	PRNP (S17T)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 1 +1 more	GUncertain significance
Select item 858815	NM_000311.5(PRNP):c.180_227del (p.60_67PHGGGWGQ[2])	PRNP	Deletion (inframe_deletion)	Huntington disease-like 1	GUncertain significance
Select item 816109	GRCh37/hg19 20p13(chr20:4439086-4676435)x3	PRNP	Copy number gain	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 767236	NM_000311.5(PRNP):c.519C>T (p.Asn173=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1	GLikely benign

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