ClinVar for MedGen (Select 1632314) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1468294	NM_004407.4(DMP1):c.1490A>T (p.His497Leu)	DMP1 (H497L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416607	NM_004407.4(DMP1):c.1502T>C (p.Ile501Thr)	DMP1 (I485T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1179102	NM_004407.4(DMP1):c.135+1G>T	DMP1	Single nucleotide variant (splice donor variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GConflicting classifications of pathogenicity
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 907244	NM_004407.4(DMP1):c.*898G>T	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 907243	NM_004407.4(DMP1):c.*875T>C	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 907171	NM_004407.4(DMP1):c.1356C>T (p.Asp452=)	DMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907170	NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser)	DMP1 (P403S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906241	NM_004407.4(DMP1):c.*808G>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 906240	NM_004407.4(DMP1):c.*799T>C	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 906239	NM_004407.4(DMP1):c.*527G>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 906176	NM_004407.4(DMP1):c.996C>G (p.Asn332Lys)	DMP1 (N332K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 906175	NM_004407.4(DMP1):c.905G>T (p.Arg302Ile)	DMP1 (R302I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905726	NM_004407.4(DMP1):c.*438G>T	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 905725	NM_004407.4(DMP1):c.*380C>T	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GBenign
Select item 905724	NM_004407.4(DMP1):c.*131T>C	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 905667	NM_004407.4(DMP1):c.724T>C (p.Ser242Pro)	DMP1 (S226P +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GLikely benign
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 905665	NM_004407.4(DMP1):c.542G>A (p.Gly181Asp)	DMP1 (G181D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 903833	NM_004407.4(DMP1):c.*77T>C	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 903832	NM_004407.4(DMP1):c.*27C>T	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 903831	NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys)	DMP1 (Y513C +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 903830	NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser)	DMP1 (G512S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 903753	NM_004407.4(DMP1):c.312C>T (p.Asp104=)	DMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 499915	NM_004407.4(DMP1):c.1433A>C (p.Asp478Ala)	DMP1 (D478A +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GUncertain significance
Select item 350005	NM_004407.4(DMP1):c.*918T>G	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 350003	NM_004407.4(DMP1):c.*905A>G	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GBenign
Select item 350002	NM_004407.4(DMP1):c.*850G>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 349999	NM_004407.4(DMP1):c.*695T>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 349998	NM_004407.4(DMP1):c.*607A>G	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GBenign
Select item 349997	NM_004407.4(DMP1):c.*603C>T	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GBenign
Select item 349996	NM_004407.4(DMP1):c.*602C>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 349995	NM_004407.4(DMP1):c.*457T>C	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GBenign
Select item 349994	NM_004407.4(DMP1):c.*373T>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 349993	NM_004407.4(DMP1):c.*329A>C	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GBenign
Select item 349992	NM_004407.4(DMP1):c.*280C>T	DMP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 349991	NM_004407.4(DMP1):c.*159T>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 349990	NM_004407.4(DMP1):c.*61C>T	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 349989	NM_004407.4(DMP1):c.*35G>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1	GBenign
Select item 349988	NM_004407.4(DMP1):c.1456A>G (p.Ile486Val)	DMP1 (I486V +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1	GUncertain significance
Select item 349987	NM_004407.4(DMP1):c.1448A>C (p.Asn483Thr)	DMP1 (N483T +1 more)	Single nucleotide variant (missense variant)	DMP1-related condition +2 more	GBenign
Select item 349986	NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys)	DMP1 (E470K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 349985	NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg)	DMP1 (K463R +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign/Likely benign
Select item 349984	NM_004407.4(DMP1):c.1333G>A (p.Glu445Lys)	DMP1 (E445K +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GUncertain significance
Select item 349983	NM_004407.4(DMP1):c.1230G>A (p.Glu410=)	DMP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign
Select item 349982	NM_004407.4(DMP1):c.1218C>T (p.Ser406=)	DMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 349981	NM_004407.4(DMP1):c.1023C>T (p.Ser341=)	DMP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GConflicting classifications of pathogenicity
Select item 349980	NM_004407.4(DMP1):c.943G>C (p.Gly315Arg)	DMP1 (G315R +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +2 more	GConflicting classifications of pathogenicity
Select item 349979	NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)	DMP1 (L282I +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign/Likely benign
Select item 349978	NM_004407.4(DMP1):c.815G>A (p.Arg272His)	DMP1 (R272H +1 more)	Single nucleotide variant (missense variant)	DMP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 349977	NM_004407.4(DMP1):c.709A>G (p.Met237Val)	DMP1 (M237V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 349976	NM_004407.4(DMP1):c.674G>A (p.Ser225Asn)	DMP1 (S225N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 349973	NM_004407.4(DMP1):c.428C>T (p.Thr143Ile)	DMP1 (T143I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 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 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 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 290776	NM_004407.4(DMP1):c.1107C>T (p.Asp369=)	DMP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GConflicting classifications of pathogenicity
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 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 198171	NM_004407.4(DMP1):c.879T>C (p.Ser293=)	DMP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 8576	NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs)	DMP1 (Y480fs +1 more)	Deletion (frameshift variant)	Hypophosphatemic rickets, autosomal recessive, 1	GPathogenic
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 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 8573	NM_004407.4(DMP1):c.362del (p.Pro121fs)	DMP1 (P105fs +1 more)	Deletion (frameshift variant)	Hypophosphatemic rickets, autosomal recessive, 1	GPathogenic

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Items: 71