DMP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 144779	GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3	ABCG2, AFF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 369444	NM_004407.4(DMP1):c.-112del	DMP1	Deletion (5 prime UTR variant)	Hypophosphatemic Rickets, Recessive	GLikely benign
Select item 1234211	NM_004407.4(DMP1):c.-21-205T>C	DMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179610	NM_004407.4(DMP1):c.-21-51A>G	DMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 8575	NM_004407.4(DMP1):c.1A>G (p.Met1Val)	DMP1 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1339444	NM_004407.4(DMP1):c.2T>A (p.Met1Lys)	DMP1 (M1K)	Single nucleotide variant (missense variant +1 more)	Hypophosphatemic rickets	GPathogenic
Select item 1456849	NM_004407.4(DMP1):c.4A>T (p.Lys2Ter)	DMP1 (K2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 282960	NM_004407.4(DMP1):c.11G>C (p.Ser4Thr)	DMP1 (S4T)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GUncertain significance
Select item 2076546	NM_004407.4(DMP1):c.40T>G (p.Ser14Ala)	DMP1 (S14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910026	NM_004407.4(DMP1):c.54+18G>A	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178697	NM_004407.4(DMP1):c.54+56A>G	DMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2697001	NM_004407.4(DMP1):c.55-13C>T	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534410	NM_004407.4(DMP1):c.55-13del	DMP1	Deletion (intron variant)	not provided	GBenign
Select item 288212	NM_004407.4(DMP1):c.55-3T>G	DMP1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 8574	NM_004407.4(DMP1):c.55-1G>C	DMP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2218717	NM_004407.4(DMP1):c.76G>C (p.Glu26Gln)	DMP1 (E26Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752888	NM_004407.4(DMP1):c.79T>C (p.Ser27Pro)	DMP1 (S27P)	Single nucleotide variant (missense variant)	DMP1-related disorder +1 more	GLikely benign
Select item 349969	NM_004407.4(DMP1):c.91G>A (p.Glu31Lys)	DMP1 (E31K)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GConflicting classifications of pathogenicity
Select item 595958	NM_004407.4(DMP1):c.98G>A (p.Trp33Ter)	DMP1 (W33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2959805	NM_004407.4(DMP1):c.102+13A>G	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227806	NM_004407.4(DMP1):c.102+79A>G	DMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266679	NM_004407.4(DMP1):c.102+256T>C	DMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194891	NM_004407.4(DMP1):c.103-318A>G	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863569	NM_004407.4(DMP1):c.103-17_103-14del	DMP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2020988	NM_004407.4(DMP1):c.103-11C>T	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2048257	NM_004407.4(DMP1):c.124A>C (p.Thr42Pro)	DMP1 (T42P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179102	NM_004407.4(DMP1):c.135+1G>T	DMP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1562481	NM_004407.4(DMP1):c.135+15T>C	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979718	NM_004407.4(DMP1):c.136-19A>C	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003774	NM_004407.4(DMP1):c.136-3C>G	DMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1528581	NM_004407.4(DMP1):c.138G>A (p.Glu46=)	DMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981928	NM_004407.4(DMP1):c.158G>A (p.Gly53Asp)	DMP1 (G53D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 903752	NM_004407.4(DMP1):c.159C>T (p.Gly53=)	DMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3083094	NM_004407.4(DMP1):c.171C>G (p.Ser57Arg)	DMP1 (S57R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1244765	NM_004407.4(DMP1):c.183+180T>C	DMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285785	NM_004407.4(DMP1):c.184-299dup	DMP1	Duplication (intron variant)	not provided	GBenign
Select item 1267753	NM_004407.4(DMP1):c.184-301_184-299dup	DMP1	Duplication (intron variant)	not provided	GBenign
Select item 1264588	NM_004407.4(DMP1):c.184-300_184-299dup	DMP1	Duplication (intron variant)	not provided	GBenign
Select item 1915427	NM_004407.4(DMP1):c.184-13C>T	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698562	NM_004407.4(DMP1):c.184-7A>G	DMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1973037	NM_004407.4(DMP1):c.184-4C>A	DMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734659	NM_004407.4(DMP1):c.184-1G>A	DMP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2168498	NM_004407.4(DMP1):c.196C>T (p.Pro66Ser)	DMP1 (P50S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 349970	NM_004407.4(DMP1):c.205A>T (p.Ser69Cys)	DMP1 (S69C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2682863	NM_004407.4(DMP1):c.209C>G (p.Thr70Ser)	DMP1 (T54S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037270	NM_004407.4(DMP1):c.230G>C (p.Gly77Ala)	DMP1 (G77A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918642	NM_004407.4(DMP1):c.244C>G (p.Gln82Glu)	DMP1 (Q82E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695097	NM_004407.4(DMP1):c.246A>G (p.Gln82=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970715	NM_004407.4(DMP1):c.259C>A (p.Leu87Ile)	DMP1 (L71I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727673	NM_004407.4(DMP1):c.263C>T (p.Ala88Val)	DMP1 (A88V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 349971	NM_004407.4(DMP1):c.289A>G (p.Lys97Glu)	DMP1 (K97E +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 1049127	NM_004407.4(DMP1):c.293GAG[1] (p.Gly99del)	DMP1 (G83del +1 more)	Microsatellite (inframe_deletion)	DMP1-related disorder +1 more	GBenign/Likely benign
Select item 903753	NM_004407.4(DMP1):c.312C>T (p.Asp104=)	DMP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GConflicting classifications of pathogenicity
Select item 903754	NM_004407.4(DMP1):c.313G>A (p.Asp105Asn)	DMP1 (D105N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2030076	NM_004407.4(DMP1):c.318A>G (p.Glu106=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440878	NM_004407.4(DMP1):c.332A>G (p.Asp111Gly)	DMP1 (D111G +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 515166	NM_004407.4(DMP1):c.348C>T (p.Asp116=)	DMP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2181371	NM_004407.4(DMP1):c.349G>A (p.Asp117Asn)	DMP1 (D101N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025385	NM_004407.4(DMP1):c.351T>C (p.Asp117=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354748	NM_004407.4(DMP1):c.352G>A (p.Asp118Asn)	DMP1 (D118N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954709	NM_004407.4(DMP1):c.360C>T (p.Gly120=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8573	NM_004407.4(DMP1):c.362del (p.Pro121fs)	DMP1 (P105fs +1 more)	Deletion (frameshift variant)	Hypophosphatemic rickets, autosomal recessive, 1	GPathogenic
Select item 349972	NM_004407.4(DMP1):c.370A>C (p.Lys124Gln)	DMP1 (K124Q +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 2128842	NM_004407.4(DMP1):c.373G>A (p.Asp125Asn)	DMP1 (D125N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502257	NM_004407.4(DMP1):c.402G>A (p.Leu134=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1407962	NM_004407.4(DMP1):c.412G>A (p.Glu138Lys)	DMP1 (E138K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051929	NM_004407.4(DMP1):c.421G>A (p.Asp141Asn)	DMP1 (D141N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2081480	NM_004407.4(DMP1):c.424G>T (p.Asp142Tyr)	DMP1 (D126Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 349973	NM_004407.4(DMP1):c.428C>T (p.Thr143Ile)	DMP1 (T143I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1054075	NM_004407.4(DMP1):c.431T>C (p.Ile144Thr)	DMP1 (I128T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400066	NM_004407.4(DMP1):c.445G>T (p.Glu149Ter)	DMP1 (E133* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 960426	NM_004407.4(DMP1):c.447G>C (p.Glu149Asp)	DMP1 (E149D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2256562	NM_004407.4(DMP1):c.468C>G (p.Asp156Glu)	DMP1 (D140E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349974	NM_004407.4(DMP1):c.475C>A (p.Gln159Lys)	DMP1 (Q159K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2987433	NM_004407.4(DMP1):c.480T>C (p.Asp160=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753106	NM_004407.4(DMP1):c.482C>T (p.Thr161Ile)	DMP1 (T161I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559303	NM_004407.4(DMP1):c.485C>T (p.Thr162Ile)	DMP1 (T146I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970621	NM_004407.4(DMP1):c.517C>T (p.Arg173Trp)	DMP1 (R173W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2166219	NM_004407.4(DMP1):c.518G>A (p.Arg173Gln)	DMP1 (R173Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 905665	NM_004407.4(DMP1):c.542G>A (p.Gly181Asp)	DMP1 (G181D +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GUncertain significance
Select item 1436940	NM_004407.4(DMP1):c.579G>T (p.Trp193Cys)	DMP1 (W177C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505879	NM_004407.4(DMP1):c.583G>A (p.Gly195Arg)	DMP1 (G179R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 905666	NM_004407.4(DMP1):c.600G>A (p.Gly200=)	DMP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign/Likely benign
Select item 1958777	NM_004407.4(DMP1):c.603G>A (p.Glu201=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993788	NM_004407.4(DMP1):c.609C>T (p.Ser203=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889371	NM_004407.4(DMP1):c.618C>T (p.Asp206=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267561	NM_004407.4(DMP1):c.619G>A (p.Gly207Ser)	DMP1 (G207S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2960949	NM_004407.4(DMP1):c.624C>T (p.Ser208=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733883	NM_004407.4(DMP1):c.639G>A (p.Glu213=)	DMP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign/Likely benign
Select item 3083095	NM_004407.4(DMP1):c.645G>T (p.Met215Ile)	DMP1 (M199I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349975	NM_004407.4(DMP1):c.658C>A (p.Pro220Thr)	DMP1 (P220T +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 1657840	NM_004407.4(DMP1):c.660A>C (p.Pro220=)	DMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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