"GeneDx"[submitter] AND "PDZD7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 1254533	NM_001195263.2(PDZD7):c.*44G>A	PDZD7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 194723	NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His)	PDZD7 (R1031H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 929883	NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=)	PDZD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1314831	NM_001195263.2(PDZD7):c.3067_3072del (p.Asp1023_Ser1024del)	PDZD7	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1712748	NM_001195263.2(PDZD7):c.3062C>T (p.Thr1021Ile)	PDZD7 (T1021I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506083	NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=)	PDZD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 862593	NM_001195263.2(PDZD7):c.2932C>A (p.Gln978Lys)	PDZD7 (Q978K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253992	NM_001195263.2(PDZD7):c.2903G>A (p.Gly968Asp)	PDZD7 (G968D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928319	NM_001195263.2(PDZD7):c.2864G>A (p.Arg955Gln)	PDZD7 (R955Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039320	NM_001195263.2(PDZD7):c.2863C>T (p.Arg955Trp)	PDZD7 (R955W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 955403	NM_001195263.2(PDZD7):c.2850del (p.Ser953fs)	PDZD7 (S953fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1958071	NM_001195263.2(PDZD7):c.2806C>G (p.Arg936Gly)	PDZD7 (R936G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303713	NM_001195263.2(PDZD7):c.2806C>T (p.Arg936Ter)	PDZD7 (R936*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1396533	NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del)	PDZD7 (R933del)	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 858101	NM_001195263.2(PDZD7):c.2786A>G (p.Asp929Gly)	PDZD7 (D929G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853138	NM_001195263.2(PDZD7):c.2777G>A (p.Arg926His)	PDZD7 (R926H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111420	NM_001195263.2(PDZD7):c.2772C>T (p.His924=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107807	NM_001195263.2(PDZD7):c.2745C>T (p.Asp915=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 194722	NM_001195263.2(PDZD7):c.2719-9C>A	PDZD7	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1059183	NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs)	PDZD7 (A898fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 837392	NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu)	PDZD7 (F894L)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 57 +3 more	GUncertain significance
Select item 1683980	NM_001195263.2(PDZD7):c.2618-6_2619del	PDZD7	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1214564	NM_001195263.2(PDZD7):c.2618-290A>C	PDZD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234991	NM_001195263.2(PDZD7):c.2617+319T>C	PDZD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222939	NM_001195263.2(PDZD7):c.2617+25G>A	PDZD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1355288	NM_001195263.2(PDZD7):c.2611T>A (p.Ser871Thr)	PDZD7 (S871T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020569	NM_001195263.2(PDZD7):c.2594T>G (p.Leu865Arg)	PDZD7 (L865R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44129	NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr)	PDZD7 (N855T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2578143	NM_001195263.2(PDZD7):c.2495_2557dup (p.Ala852_Met853insLysValGlyAlaLysGlnGlyProSerGluSerGlyThrGluGlyThrAlaLysGluAlaAla)	PDZD7	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 164936	NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=)	PDZD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 430143	NM_001195263.2(PDZD7):c.2481T>G (p.Asp827Glu)	PDZD7 (D827E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578202	NM_001195263.2(PDZD7):c.2473C>T (p.Pro825Ser)	PDZD7 (P825S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44128	NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val)	PDZD7 (A804V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 934681	NM_001195263.2(PDZD7):c.2396C>G (p.Pro799Arg)	PDZD7 (P799R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937215	NM_001195263.2(PDZD7):c.2372C>T (p.Ser791Phe)	PDZD7 (S791F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44127	NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu)	PDZD7 (K790E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 178524	NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)	PDZD7 (R786Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 44126	NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7])	PDZD7	Microsatellite (inframe_insertion)	not specified +3 more	GBenign
Select item 1142699	NM_001195263.2(PDZD7):c.2335CGCAGC[2] (p.773RS[5])	PDZD7	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1051760	NM_001195263.2(PDZD7):c.2335CGCAGC[1] (p.773RS[4])	PDZD7	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 423186	NM_001195263.2(PDZD7):c.2348G>A (p.Arg783His)	PDZD7 (R783H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 164938	NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3])	PDZD7	Deletion	not specified +1 more	GBenign/Likely benign
Select item 44125	NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])	PDZD7	Deletion	not provided +1 more	GBenign/Likely benign
Select item 1046367	NM_001195263.2(PDZD7):c.2334_2335insTGCAGC (p.Ser778_Arg779insCysSer)	PDZD7	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1122149	NM_001195263.2(PDZD7):c.2331T>C (p.Arg777=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44124	NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=)	PDZD7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3373556	NM_001195263.2(PDZD7):c.2264C>T (p.Pro755Leu)	PDZD7 (P755L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1132459	NM_001195263.2(PDZD7):c.2253G>A (p.Leu751=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 281980	NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)	PDZD7 (W750C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1700511	NM_001195263.2(PDZD7):c.2237T>A (p.Leu746Gln)	PDZD7 (L746Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666635	NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln)	PDZD7 (R744Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 666636	NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=)	PDZD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1014909	NM_001195263.2(PDZD7):c.2186G>A (p.Arg729Gln)	PDZD7 (R729Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817841	NM_001195263.2(PDZD7):c.2185del (p.Arg729fs)	PDZD7 (R729fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 164939	NM_001195263.2(PDZD7):c.2157C>T (p.Asp719=)	PDZD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 44123	NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)	PDZD7 (P715L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 44122	NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg)	PDZD7 (H711R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1023975	NM_001195263.2(PDZD7):c.2123G>A (p.Arg708His)	PDZD7 (R708H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 44121	NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	PDZD7 (S703fs)	Deletion (frameshift variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 915843	NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)	PDZD7 (A697fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1700393	NM_001195263.2(PDZD7):c.2068G>A (p.Glu690Lys)	PDZD7 (E690K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44120	NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1693080	NM_001195263.2(PDZD7):c.2020T>C (p.Phe674Leu)	PDZD7 (F674L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836955	NM_001195263.2(PDZD7):c.2012G>A (p.Arg671His)	PDZD7 (R671H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666907	NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser)	PDZD7 (R671S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1262661	NM_001195263.2(PDZD7):c.2006-38_2006-37insGAGGTGGTCCAGTCTGG	PDZD7	Insertion (intron variant)	not provided	GBenign
Select item 671567	NM_001195263.2(PDZD7):c.2006-179ATAA[4]	PDZD7	Microsatellite (intron variant)	not provided	GBenign
Select item 1199517	NM_001195263.2(PDZD7):c.2006-178_2006-177insAATG	PDZD7	Insertion (intron variant)	not provided	GLikely benign
Select item 683855	NM_001195263.2(PDZD7):c.2006-313T>G	PDZD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277024	NM_001195263.2(PDZD7):c.2005+244A>G	PDZD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 964117	NM_001195263.2(PDZD7):c.1996C>T (p.Pro666Ser)	PDZD7 (P666S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450334	NM_001195263.2(PDZD7):c.1982G>A (p.Arg661His)	PDZD7 (R661H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166158	NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser)	PDZD7 (P648S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1254504	NM_001195263.2(PDZD7):c.1934-24T>C	PDZD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677233	NM_001195263.2(PDZD7):c.1934-55C>T	PDZD7	Single nucleotide variant (intron variant)	Usher syndrome type 2C +2 more	GBenign
Select item 1213529	NM_001195263.2(PDZD7):c.1933+46G>C	PDZD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3343896	NM_001195263.2(PDZD7):c.1933+1G>A	PDZD7	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1170477	NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly)	PDZD7 (A639G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 667151	NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=)	PDZD7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 666908	NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr)	PDZD7 (R614T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1024785	NM_001195263.2(PDZD7):c.1799T>A (p.Ile600Asn)	PDZD7 (I600N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201482	NM_001195263.2(PDZD7):c.1750-110C>G	PDZD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672460	NM_001195263.2(PDZD7):c.1750-196T>C	PDZD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672433	NM_001195263.2(PDZD7):c.1750-241C>T	PDZD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683852	NM_001195263.2(PDZD7):c.1750-268T>G	PDZD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231052	NM_001195263.2(PDZD7):c.1749+188A>G	PDZD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249260	NM_001195263.2(PDZD7):c.1749+144CA[11]	PDZD7	Microsatellite (intron variant)	not provided	GBenign
Select item 1179443	NM_001195263.2(PDZD7):c.1749+144CA[12]	PDZD7	Microsatellite (intron variant)	not provided	GBenign
Select item 1244284	NM_001195263.2(PDZD7):c.1749+43del	PDZD7	Deletion (intron variant)	Usher syndrome type 2C +2 more	GBenign
Select item 1695757	NM_001195263.2(PDZD7):c.1739A>C (p.His580Pro)	PDZD7 (H580P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535361	NM_001195263.2(PDZD7):c.1722G>A (p.Val574=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1164589	NM_001195263.2(PDZD7):c.1653T>G (p.Val551=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 667152	NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)	PDZD7	Single nucleotide variant (synonymous variant)	Usher syndrome type 2C +4 more	GLikely benign
Select item 44119	NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)	PDZD7 (G538E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1052703	NM_001195263.2(PDZD7):c.1589G>A (p.Arg530Gln)	PDZD7 (R530Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1154603	NM_001195263.2(PDZD7):c.1575C>T (p.Asp525=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667958	NM_001195263.2(PDZD7):c.1574-148C>T	PDZD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 929919	NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu)	PDZD7 (P513L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1056859	NM_001195263.2(PDZD7):c.1531G>A (p.Val511Met)	PDZD7 (V511M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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