"Ambry Genetics"[submitter] AND "DSPP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 740777	NM_014208.3(DSPP):c.368G>C (p.Gly123Ala)	DSPP (G123A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3273931	NM_014208.3(DSPP):c.371T>A (p.Ile124Lys)	DSPP (I124K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212650	NM_014208.3(DSPP):c.428T>C (p.Ile143Thr)	DSPP (I143T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285939	NM_014208.3(DSPP):c.433A>G (p.Asn145Asp)	DSPP (N145D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806686	NM_014208.3(DSPP):c.505G>A (p.Asp169Asn)	DSPP (D169N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3086026	NM_014208.3(DSPP):c.512G>A (p.Gly171Asp)	DSPP (G171D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2235927	NM_014208.3(DSPP):c.625A>G (p.Asn209Asp)	DSPP (N209D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1213469	NM_014208.3(DSPP):c.713G>A (p.Gly238Asp)	DSPP (G238D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2307847	NM_014208.3(DSPP):c.790G>T (p.Asp264Tyr)	DSPP (D264Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338583	NM_014208.3(DSPP):c.919C>G (p.Pro307Ala)	DSPP (P307A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178622	NM_014208.3(DSPP):c.965C>A (p.Thr322Asn)	DSPP (T322N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 716335	NM_014208.3(DSPP):c.988G>A (p.Ala330Thr)	DSPP (A330T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1210961	NM_014208.3(DSPP):c.1014C>A (p.Ser338Arg)	DSPP (S338R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3273911	NM_014208.3(DSPP):c.1021A>C (p.Ile341Leu)	DSPP (I341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1185809	NM_014208.3(DSPP):c.1024G>A (p.Glu342Lys)	DSPP (E342K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 689607	NM_014208.3(DSPP):c.1031C>A (p.Thr344Asn)	DSPP (T344N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3273930	NM_014208.3(DSPP):c.1046A>G (p.His349Arg)	DSPP (H349R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1313932	NM_014208.3(DSPP):c.1061G>A (p.Arg354His)	DSPP (R354H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2606773	NM_014208.3(DSPP):c.1072A>G (p.Arg358Gly)	DSPP (R358G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2496027	NM_014208.3(DSPP):c.1127T>C (p.Ile376Thr)	DSPP (I376T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225842	NM_014208.3(DSPP):c.1202A>G (p.Asp401Gly)	DSPP (D401G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3085989	NM_014208.3(DSPP):c.1298G>T (p.Gly433Val)	DSPP (G433V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515579	NM_014208.3(DSPP):c.1378A>T (p.Met460Leu)	DSPP (M460L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220238	NM_014208.3(DSPP):c.1490A>C (p.Glu497Ala)	DSPP (E497A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589737	NM_014208.3(DSPP):c.1500T>A (p.Asp500Glu)	DSPP (D500E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321837	NM_014208.3(DSPP):c.1557del (p.Asp520fs)	DSPP (D520fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3273922	NM_014208.3(DSPP):c.1588G>A (p.Gly530Ser)	DSPP (G530S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085990	NM_014208.3(DSPP):c.1591A>G (p.Asn531Asp)	DSPP (N531D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216479	NM_014208.3(DSPP):c.1778G>C (p.Ser593Thr)	DSPP (S593T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558356	NM_014208.3(DSPP):c.1809C>A (p.Asp603Glu)	DSPP (D603E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273920	NM_014208.3(DSPP):c.1819A>G (p.Ser607Gly)	DSPP (S607G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541623	NM_014208.3(DSPP):c.1832G>A (p.Ser611Asn)	DSPP (S611N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3273917	NM_014208.3(DSPP):c.1918_1921del (p.Ser640fs)	DSPP (S640fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3085991	NM_014208.3(DSPP):c.1928G>A (p.Ser643Asn)	DSPP (S643N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225785	NM_014208.3(DSPP):c.1972G>A (p.Asp658Asn)	DSPP (D658N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330136	NM_014208.3(DSPP):c.2009A>G (p.Asp670Gly)	DSPP (D670G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2325155	NM_014208.3(DSPP):c.2086A>G (p.Ser696Gly)	DSPP (S696G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280156	NM_014208.3(DSPP):c.2093G>A (p.Ser698Asn)	DSPP (S698N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085992	NM_014208.3(DSPP):c.2173G>A (p.Asp725Asn)	DSPP (D725N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273928	NM_014208.3(DSPP):c.2184C>A (p.Ser728Arg)	DSPP (S728R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548602	NM_014208.3(DSPP):c.2187C>A (p.Ser729Arg)	DSPP (S729R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311185	NM_014208.3(DSPP):c.2300G>A (p.Ser767Asn)	DSPP (S767N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297266	NM_014208.3(DSPP):c.2306A>G (p.Asp769Gly)	DSPP (D769G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2357241	NM_014208.3(DSPP):c.2382C>A (p.Ser794Arg)	DSPP (S794R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273913	NM_014208.3(DSPP):c.2413A>C (p.Asn805His)	DSPP (N805H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 811756	NM_014208.3(DSPP):c.2455G>A (p.Asp819Asn)	DSPP (D819N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3273921	NM_014208.3(DSPP):c.2536G>A (p.Asp846Asn)	DSPP (D846N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085993	NM_014208.3(DSPP):c.2557A>G (p.Ser853Gly)	DSPP (S853G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621352	NM_014208.3(DSPP):c.2582G>A (p.Ser861Asn)	DSPP (S861N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085994	NM_014208.3(DSPP):c.2605G>A (p.Asp869Asn)	DSPP (D869N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279830	NM_014208.3(DSPP):c.2658C>G (p.Asn886Lys)	DSPP (N886K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477507	NM_014208.3(DSPP):c.2675G>A (p.Ser892Asn)	DSPP (S892N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239192	NM_014208.3(DSPP):c.2683A>G (p.Ser895Gly)	DSPP (S895G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242248	NM_014208.3(DSPP):c.2705A>T (p.Asp902Val)	DSPP (D902V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231201	NM_014208.3(DSPP):c.2836G>T (p.Asp946Tyr)	DSPP (D946Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254655	NM_014208.3(DSPP):c.2844T>A (p.Ser948Arg)	DSPP (S948R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391844	NM_014208.3(DSPP):c.2950G>A (p.Asp984Asn)	DSPP (D984N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2283842	NM_014208.3(DSPP):c.2991C>A (p.Ser997Arg)	DSPP (S997R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226361	NM_014208.3(DSPP):c.2997T>A (p.Asp999Glu)	DSPP (D999E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2263502	NM_014208.3(DSPP):c.3015T>G (p.Asp1005Glu)	DSPP (D1005E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273910	NM_014208.3(DSPP):c.3049A>C (p.Asn1017His)	DSPP (N1017H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085995	NM_014208.3(DSPP):c.3054T>C (p.Ser1018=)	DSPP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2293224	NM_014208.3(DSPP):c.3072C>A (p.Ser1024Arg)	DSPP (S1024R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211119	NM_014208.3(DSPP):c.3109A>T (p.Ser1037Cys)	DSPP (S1037C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2262335	NM_014208.3(DSPP):c.3123T>G (p.Asp1041Glu)	DSPP (D1041E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556275	NM_014208.3(DSPP):c.3135C>A (p.Ser1045Arg)	DSPP (S1045R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535107	NM_014208.3(DSPP):c.3176A>G (p.Asp1059Gly)	DSPP (D1059G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307231	NM_014208.3(DSPP):c.3193G>A (p.Asp1065Asn)	DSPP (D1065N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291427	NM_014208.3(DSPP):c.3194A>G (p.Asp1065Gly)	DSPP (D1065G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525602	NM_014208.3(DSPP):c.3196A>G (p.Ser1066Gly)	DSPP (S1066G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322696	NM_014208.3(DSPP):c.3199A>G (p.Ser1067Gly)	DSPP (S1067G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085996	NM_014208.3(DSPP):c.3201T>A (p.Ser1067Arg)	DSPP (S1067R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609994	NM_014208.3(DSPP):c.3202G>A (p.Asp1068Asn)	DSPP (D1068N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525214	NM_014208.3(DSPP):c.3203A>G (p.Asp1068Gly)	DSPP (D1068G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338864	NM_014208.3(DSPP):c.3208A>G (p.Ser1070Gly)	DSPP (S1070G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615088	NM_014208.3(DSPP):c.3210T>A (p.Ser1070Arg)	DSPP (S1070R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605664	NM_014208.3(DSPP):c.3212A>G (p.Asp1071Gly)	DSPP (D1071G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085997	NM_014208.3(DSPP):c.3214A>G (p.Ser1072Gly)	DSPP (S1072G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603016	NM_014208.3(DSPP):c.3217A>T (p.Ser1073Cys)	DSPP (S1073C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279426	NM_014208.3(DSPP):c.3217A>G (p.Ser1073Gly)	DSPP (S1073G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085998	NM_014208.3(DSPP):c.3219T>A (p.Ser1073Arg)	DSPP (S1073R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525278	NM_014208.3(DSPP):c.3220G>A (p.Asp1074Asn)	DSPP (D1074N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489050	NM_014208.3(DSPP):c.3220G>C (p.Asp1074His)	DSPP (D1074H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085999	NM_014208.3(DSPP):c.3221A>C (p.Asp1074Ala)	DSPP (D1074A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273919	NM_014208.3(DSPP):c.3224G>A (p.Ser1075Asn)	DSPP (S1075N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273915	NM_014208.3(DSPP):c.3226A>G (p.Ser1076Gly)	DSPP (S1076G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537517	NM_014208.3(DSPP):c.3227G>A (p.Ser1076Asn)	DSPP (S1076N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273918	NM_014208.3(DSPP):c.3228C>G (p.Ser1076Arg)	DSPP (S1076R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086001	NM_014208.3(DSPP):c.3228C>A (p.Ser1076Arg)	DSPP (S1076R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213838	NM_014208.3(DSPP):c.3229G>A (p.Asp1077Asn)	DSPP (D1077N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086002	NM_014208.3(DSPP):c.3230A>G (p.Asp1077Gly)	DSPP (D1077G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273924	NM_014208.3(DSPP):c.3232A>C (p.Ser1078Arg)	DSPP (S1078R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603079	NM_014208.3(DSPP):c.3232A>G (p.Ser1078Gly)	DSPP (S1078G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273914	NM_014208.3(DSPP):c.3233G>A (p.Ser1078Asn)	DSPP (S1078N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086003	NM_014208.3(DSPP):c.3234C>G (p.Ser1078Arg)	DSPP (S1078R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086004	NM_014208.3(DSPP):c.3235A>T (p.Ser1079Cys)	DSPP (S1079C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473324	NM_014208.3(DSPP):c.3235A>G (p.Ser1079Gly)	DSPP (S1079G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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