5052[geneid] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 57754	GRCh38/hg38 1p34.1(chr1:45402871-45603348)x3	AKR1A1, CCDC163 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 1665330	NM_181697.3(PRDX1):c.558T>C (p.Pro186=)	MMACHC, PRDX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1927058	NM_181697.3(PRDX1):c.554A>C (p.Lys185Thr)	MMACHC, PRDX1 (K185T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2701912	NM_181697.3(PRDX1):c.551del (p.Ile184fs)	MMACHC, PRDX1 (I184fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1902458	NM_181697.3(PRDX1):c.523G>T (p.Ala175Ser)	MMACHC, PRDX1 (A175S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 495209	NM_181697.3(PRDX1):c.515-1G>T	MMACHC, PRDX1	Single nucleotide variant (3 prime UTR variant +1 more)	Cobalamin C disease +1 more	GPathogenic
Select item 495210	NM_181697.3(PRDX1):c.515-2A>T	MMACHC, PRDX1	Single nucleotide variant (3 prime UTR variant +1 more)	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	GPathogenic
Select item 1251776	NM_181697.3(PRDX1):c.515-171_515-170del	MMACHC, PRDX1	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2082807	NM_181697.3(PRDX1):c.514+8A>G	PRDX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2543764	NM_181697.3(PRDX1):c.503A>G (p.Lys168Arg)	PRDX1 (K168R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1351486	NM_181697.3(PRDX1):c.457G>C (p.Val153Leu)	PRDX1 (V153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759973	NM_181697.3(PRDX1):c.441C>T (p.Leu147=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741053	NM_181697.3(PRDX1):c.384-10C>A	PRDX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748538	NM_181697.3(PRDX1):c.384-19_384-15del	PRDX1	Deletion (intron variant)	not provided	GLikely benign
Select item 754054	NM_181697.3(PRDX1):c.383+9T>A	PRDX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2285128	NM_181697.3(PRDX1):c.343G>C (p.Asp115His)	PRDX1 (D115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072613	NM_181697.3(PRDX1):c.340C>T (p.Gln114Ter)	PRDX1 (Q114*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3218484	NM_181697.3(PRDX1):c.332C>G (p.Thr111Ser)	PRDX1 (T111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2083086	NM_181697.3(PRDX1):c.302A>G (p.Asn101Ser)	PRDX1 (N101S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2415290	NM_181697.3(PRDX1):c.298A>G (p.Met100Val)	PRDX1 (M100V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078536	NM_181697.3(PRDX1):c.297C>T (p.Pro99=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552209	NM_181697.3(PRDX1):c.289C>T (p.Leu97=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2110727	NM_181697.3(PRDX1):c.268A>C (p.Thr90Pro)	PRDX1 (T90P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178886	NM_181697.3(PRDX1):c.261-195A>C	PRDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225786	NM_181697.3(PRDX1):c.260+218C>T	PRDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260318	NM_181697.3(PRDX1):c.260+182C>T	PRDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278652	NM_181697.3(PRDX1):c.260+68T>C	PRDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2224759	NM_181697.3(PRDX1):c.184A>G (p.Arg62Gly)	PRDX1 (R62G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921595	NM_181697.3(PRDX1):c.180T>C (p.Ser60=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420873	NM_181697.3(PRDX1):c.170T>C (p.Ile57Thr)	PRDX1 (I57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1472040	NM_181697.3(PRDX1):c.162G>A (p.Thr54=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2831695	NM_181697.3(PRDX1):c.136del (p.Asp47fs)	PRDX1 (D47fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1982139	NM_181697.3(PRDX1):c.135T>C (p.Pro45=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632829	NM_181697.3(PRDX1):c.132C>T (p.Tyr44=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138786	NM_181697.3(PRDX1):c.114T>C (p.Tyr38=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979563	NM_181697.3(PRDX1):c.107-3del	PRDX1	Deletion (intron variant)	not provided	GBenign
Select item 2157130	NM_181697.3(PRDX1):c.107-9T>A	PRDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1492481	NM_181697.3(PRDX1):c.107-10T>A	PRDX1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1978201	NM_181697.3(PRDX1):c.107-11T>A	PRDX1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1579810	NM_181697.3(PRDX1):c.107-15C>T	PRDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242857	NM_181697.3(PRDX1):c.107-33A>G	PRDX1	Single nucleotide variant (intron variant)	Cobalamin C disease +1 more	GBenign
Select item 1249354	NM_181697.3(PRDX1):c.107-36_107-35del	PRDX1	Microsatellite (intron variant)	not provided	GBenign
Select item 2421873	NM_181697.3(PRDX1):c.100T>A (p.Tyr34Asn)	PRDX1 (Y34N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807340	NM_181697.3(PRDX1):c.78T>C (p.Phe26=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976567	NM_181697.3(PRDX1):c.67G>A (p.Asp23Asn)	PRDX1 (D23N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358649	NM_181697.3(PRDX1):c.62T>C (p.Met21Thr)	PRDX1 (M21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2591453	NM_181697.3(PRDX1):c.58G>A (p.Val20Ile)	PRDX1 (V20I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2719951	NM_181697.3(PRDX1):c.54A>C (p.Thr18=)	PRDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964602	NM_181697.3(PRDX1):c.35C>A (p.Ala12Asp)	PRDX1 (A12D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252605	NM_181697.3(PRDX1):c.-11-129_-11-127del	PRDX1	Microsatellite (intron variant)	not provided	GBenign
Select item 3247748	NC_000001.10:g.(?_45973008)_(45977106_?)del	MMACHC, PRDX1	Deletion	Cobalamin C disease	GPathogenic
Select item 3063121	GRCh37/hg19 1p34.1(chr1:45857175-46077062)x3	AKR1A1, MMACHC +3 more	Copy number gain	not specified	GUncertain significance
Select item 2426173	NC_000001.10:g.(?_45966005)_(45977106_?)dup	MMACHC, PRDX1	Duplication	Cobalamin C disease	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 2424484	NC_000001.10:g.(?_45980159)_(45984715_?)dup	PRDX1	Duplication	not provided	GUncertain significance
Select item 2424483	NC_000001.10:g.(?_45966005)_(45984715_?)del	MMACHC, PRDX1	Deletion	not provided	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
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 1179112	GRCh37/hg19 1p34.1(chr1:45965972-45979054)	MMACHC, PRDX1	Copy number loss	Cobalamin C disease	GPathogenic
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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 561978	GRCh37/hg19 1p34.1(chr1:45923445-46017520)x1	TESK2, MMACHC +2 more	Copy number loss	not provided	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 253787	GRCh37/hg19 1p34.1(chr1:45953923-46126722)x3	AKR1A1, CCDC17 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 73