"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DMP1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 349973	NM_004407.4(DMP1):c.428C>T (p.Thr143Ile)	DMP1 (T143I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 970621	NM_004407.4(DMP1):c.517C>T (p.Arg173Trp)	DMP1 (R173W +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	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 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 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 349978	NM_004407.4(DMP1):c.815G>A (p.Arg272His)	DMP1 (R272H +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 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 907170	NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser)	DMP1 (P403S +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GUncertain significance
Select item 349986	NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys)	DMP1 (E470K +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GUncertain significance
Select item 1468294	NM_004407.4(DMP1):c.1490A>T (p.His497Leu)	DMP1 (H497L +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +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 903830	NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser)	DMP1 (G512S +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +2 more	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 349991	NM_004407.4(DMP1):c.*159T>A	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GUncertain significance