"PreventionGenetics, part of Exact Sciences"[submitter] AND "PDZD2"[ge - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 776038	NM_178140.4(PDZD2):c.16G>A (p.Asp6Asn)	PDZD2 (D6N)	Single nucleotide variant (missense variant)	PDZD2-related condition +1 more	GBenign
Select item 3041665	NM_178140.4(PDZD2):c.111G>A (p.Ala37=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3037252	NM_178140.4(PDZD2):c.167C>T (p.Thr56Met)	PDZD2 (T56M)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3049244	NM_178140.4(PDZD2):c.192C>T (p.Pro64=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3053793	NM_178140.4(PDZD2):c.479A>T (p.Tyr160Phe)	PDZD2 (Y160F)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 2637315	NM_178140.4(PDZD2):c.567C>T (p.Gly189=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3034906	NM_178140.4(PDZD2):c.644G>A (p.Arg215Gln)	PDZD2 (R215Q)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3043864	NM_178140.4(PDZD2):c.676C>A (p.Pro226Thr)	PDZD2 (P226T)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3044477	NM_178140.4(PDZD2):c.875A>G (p.His292Arg)	PDZD2 (H292R)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3048696	NM_178140.4(PDZD2):c.948G>A (p.Thr316=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3035822	NM_178140.4(PDZD2):c.957A>G (p.Gln319=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3040841	NM_178140.4(PDZD2):c.993A>C (p.Arg331=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3035785	NM_178140.4(PDZD2):c.1264G>A (p.Ala422Thr)	PDZD2 (A422T)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3041738	NM_178140.4(PDZD2):c.1833G>A (p.Gln611=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3043693	NM_178140.4(PDZD2):c.1848C>T (p.Val616=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3050005	NM_178140.4(PDZD2):c.2070C>T (p.Ser690=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3038369	NM_178140.4(PDZD2):c.2118C>T (p.Ser706=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3042385	NM_178140.4(PDZD2):c.2153C>A (p.Thr718Asn)	PDZD2 (T718N)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3056822	NM_178140.4(PDZD2):c.2194A>C (p.Asn732His)	PDZD2 (N732H)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3039429	NM_178140.4(PDZD2):c.2694G>A (p.Ser898=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3049254	NM_178140.4(PDZD2):c.2850G>A (p.Gln950=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3051677	NM_178140.4(PDZD2):c.2896G>A (p.Asp966Asn)	PDZD2 (D966N)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3043897	NM_178140.4(PDZD2):c.2937A>G (p.Glu979=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3055434	NM_178140.4(PDZD2):c.2961G>A (p.Gly987=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 769647	NM_178140.4(PDZD2):c.2969C>T (p.Pro990Leu)	PDZD2 (P990L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3056796	NM_178140.4(PDZD2):c.3040G>A (p.Val1014Ile)	PDZD2 (V1014I)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3059334	NM_178140.4(PDZD2):c.3180G>A (p.Thr1060=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3048908	NM_178140.4(PDZD2):c.3249C>T (p.Ser1083=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3037763	NM_178140.4(PDZD2):c.3250G>A (p.Ala1084Thr)	PDZD2 (A1084T)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3060587	NM_178140.4(PDZD2):c.3297G>A (p.Thr1099=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3038121	NM_178140.4(PDZD2):c.3317C>T (p.Ser1106Phe)	PDZD2 (S1106F)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3037558	NM_178140.4(PDZD2):c.3361G>A (p.Val1121Met)	PDZD2 (V1121M)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3050759	NM_178140.4(PDZD2):c.3366C>T (p.Ala1122=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 720336	NM_178140.4(PDZD2):c.3460G>C (p.Asp1154His)	PDZD2 (D1154H)	Single nucleotide variant (missense variant)	PDZD2-related condition +1 more	GBenign/Likely benign
Select item 3041417	NM_178140.4(PDZD2):c.3471G>A (p.Ser1157=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3037123	NM_178140.4(PDZD2):c.3533A>G (p.Glu1178Gly)	PDZD2 (E1178G)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3039648	NM_178140.4(PDZD2):c.3623G>A (p.Ser1208Asn)	PDZD2 (S1208N)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3044770	NM_178140.4(PDZD2):c.3637A>G (p.Asn1213Asp)	PDZD2 (N1213D)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3051576	NM_178140.4(PDZD2):c.3702C>T (p.Asp1234=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3040167	NM_178140.4(PDZD2):c.3732C>T (p.Ala1244=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3056789	NM_178140.4(PDZD2):c.3772C>A (p.Gln1258Lys)	PDZD2 (Q1258K)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3044748	NM_178140.4(PDZD2):c.3856C>A (p.His1286Asn)	PDZD2 (H1286N)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3055777	NM_178140.4(PDZD2):c.3876G>A (p.Pro1292=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3053405	NM_178140.4(PDZD2):c.3927G>A (p.Ser1309=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3060569	NM_178140.4(PDZD2):c.4029C>A (p.Asp1343Glu)	PDZD2 (D1343E)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3040990	NM_178140.4(PDZD2):c.4086G>A (p.Leu1362=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3033330	NM_178140.4(PDZD2):c.4108C>T (p.Pro1370Ser)	PDZD2 (P1370S)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3045408	NM_178140.4(PDZD2):c.4110T>C (p.Pro1370=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3060366	NM_178140.4(PDZD2):c.4254G>C (p.Gly1418=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3044862	NM_178140.4(PDZD2):c.4274C>T (p.Thr1425Met)	PDZD2 (T1425M)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3050895	NM_178140.4(PDZD2):c.4275G>A (p.Thr1425=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3039343	NM_178140.4(PDZD2):c.4338G>C (p.Thr1446=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3051029	NM_178140.4(PDZD2):c.4412G>A (p.Arg1471His)	PDZD2 (R1471H)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3047360	NM_178140.4(PDZD2):c.4587T>C (p.Ser1529=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3040237	NM_178140.4(PDZD2):c.4725C>T (p.Asp1575=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 782814	NM_178140.4(PDZD2):c.4726G>A (p.Gly1576Ser)	PDZD2 (G1576S)	Single nucleotide variant (missense variant)	PDZD2-related condition +1 more	GLikely benign
Select item 3040845	NM_178140.4(PDZD2):c.4782A>G (p.Ser1594=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3056477	NM_178140.4(PDZD2):c.4946C>T (p.Ala1649Val)	PDZD2 (A1649V)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3041032	NM_178140.4(PDZD2):c.5040G>A (p.Ala1680=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3044562	NM_178140.4(PDZD2):c.5241C>T (p.Tyr1747=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 710960	NM_178140.4(PDZD2):c.5562G>A (p.Pro1854=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition +1 more	GBenign
Select item 3038277	NM_178140.4(PDZD2):c.5625T>C (p.Asn1875=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3041150	NM_178140.4(PDZD2):c.5708_5716del (p.Ala1903_Ala1905del)	PDZD2	Deletion (inframe deletion)	PDZD2-related condition	GBenign
Select item 2655381	NM_178140.4(PDZD2):c.5859C>T (p.Ser1953=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition +1 more	GLikely benign
Select item 3034251	NM_178140.4(PDZD2):c.6120G>A (p.Ala2040=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3036920	NM_178140.4(PDZD2):c.6247C>T (p.Arg2083Cys)	PDZD2 (R2083C)	Single nucleotide variant (missense variant)	PDZD2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3044031	NM_178140.4(PDZD2):c.6252C>T (p.Leu2084=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3038175	NM_178140.4(PDZD2):c.6268C>T (p.Leu2090=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3043646	NM_178140.4(PDZD2):c.6408C>G (p.Val2136=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 791133	NM_178140.4(PDZD2):c.6546A>G (p.Glu2182=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition +1 more	GBenign
Select item 3058926	NM_178140.4(PDZD2):c.6740G>A (p.Arg2247Gln)	PDZD2 (R2247Q)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3051045	NM_178140.4(PDZD2):c.6758T>C (p.Val2253Ala)	PDZD2 (V2253A)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 3041406	NM_178140.4(PDZD2):c.6824A>G (p.Gln2275Arg)	PDZD2 (Q2275R)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 2655382	NM_178140.4(PDZD2):c.6834T>C (p.Tyr2278=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition +1 more	GLikely benign
Select item 3039318	NM_178140.4(PDZD2):c.7002T>C (p.Ser2334=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3035053	NM_178140.4(PDZD2):c.7059C>G (p.Ala2353=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3037261	NM_178140.4(PDZD2):c.7066G>A (p.Gly2356Arg)	PDZD2 (G2356R)	Single nucleotide variant (missense variant)	PDZD2-related condition	GLikely benign
Select item 791442	NM_178140.4(PDZD2):c.7106T>C (p.Ile2369Thr)	PDZD2 (I2369T)	Single nucleotide variant (missense variant)	PDZD2-related condition +1 more	GBenign
Select item 3038318	NM_178140.4(PDZD2):c.7114C>G (p.Arg2372Gly)	PDZD2 (R2372G)	Single nucleotide variant (missense variant)	PDZD2-related condition	GBenign
Select item 3037128	NM_178140.4(PDZD2):c.7203C>T (p.Ser2401=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3038184	NM_178140.4(PDZD2):c.7320G>A (p.Ser2440=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3040055	NM_178140.4(PDZD2):c.7440C>T (p.Ser2480=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3038654	NM_178140.4(PDZD2):c.7554C>G (p.Pro2518=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GLikely benign
Select item 3042087	NM_178140.4(PDZD2):c.7728-9A>G	PDZD2	Single nucleotide variant (intron variant)	PDZD2-related condition	GBenign
Select item 3060304	NM_178140.4(PDZD2):c.7785G>A (p.Ser2595=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3055687	NM_178140.4(PDZD2):c.7794A>G (p.Gly2598=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 3056159	NM_178140.4(PDZD2):c.7797G>T (p.Ser2599=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related condition	GBenign
Select item 2655383	NM_178140.4(PDZD2):c.8000G>A (p.Arg2667Gln)	LOC126807343, PDZD2 (R2667Q)	Single nucleotide variant (missense variant)	PDZD2-related condition +1 more	GBenign/Likely benign

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Items: 88