"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260354	NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)	DSPP (R354C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 994061	NM_014208.3(DSPP):c.2012G>A (p.Ser671Asn)	DSPP (S671N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1206200	NM_014208.3(DSPP):c.2036_2053dup (p.Ser679_Ser684dup)	DSPP	Duplication (inframe_insertion)	not specified	GBenign
Select item 1206137	NM_014208.3(DSPP):c.3010A>G (p.Ser1004Gly)	DSPP (S1004G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445476	NM_014208.3(DSPP):c.3024CAGCAGTGA[1] (p.1005DSS[3])	DSPP	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1206416	NM_014208.3(DSPP):c.3085_3093del (p.Asn1029_Ser1031del)	DSPP	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1205804	NM_014208.3(DSPP):c.3102_3110del (p.1032DSS[7])	DSPP	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1175629	NM_014208.3(DSPP):c.3263_3264insCGATAGCAG (p.1086DSS[3])	DSPP	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 1206347	NM_014208.3(DSPP):c.3363_3371del (p.Asn1122_Ser1124del)	DSPP	Deletion (inframe_deletion)	not provided	GBenign
Select item 1205890	NM_014208.3(DSPP):c.3535A>G (p.Asn1179Asp)	DSPP (N1179D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206266	NM_014208.3(DSPP):c.3672C>A (p.Asp1224Glu)	DSPP (D1224E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 523082	NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu)	DSPP (D1227E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1206074	NM_014208.3(DSPP):c.3695A>G (p.Asn1232Ser)	DSPP (N1232S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1206199	NM_014208.3(DSPP):c.3699A>C (p.Glu1233Asp)	DSPP (E1233D)	Single nucleotide variant (missense variant)	not provided	GBenign