"GeneDx"[submitter] AND "DMP1"[gene] - ClinVar

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Items: 29

	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 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 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 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)	Hypophosphatemic rickets, autosomal recessive, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1178697	NM_004407.4(DMP1):c.54+56A>G	DMP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 349970	NM_004407.4(DMP1):c.205A>T (p.Ser69Cys)	DMP1 (S69C +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign
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 515166	NM_004407.4(DMP1):c.348C>T (p.Asp116=)	DMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 349974	NM_004407.4(DMP1):c.475C>A (p.Gln159Lys)	DMP1 (Q159K +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign
Select item 1707165	NM_004407.4(DMP1):c.809A>C (p.Lys270Thr)	DMP1 (K254T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 906176	NM_004407.4(DMP1):c.996C>G (p.Asn332Lys)	DMP1 (N332K +1 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 1 +2 more	GUncertain significance
Select item 429454	NM_004407.4(DMP1):c.1102C>T (p.Pro368Ser)	DMP1 (P368S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 349982	NM_004407.4(DMP1):c.1218C>T (p.Ser406=)	DMP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign
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 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 349992	NM_004407.4(DMP1):c.*280C>T	DMP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 1 +1 more	GBenign
Select item 3360560	NM_004407.4(DMP1):c.200G>A (p.Ser67Asn)	DMP1 (S51N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 29