26257[HGNC] - 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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	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 1035782	NM_001195263.2(PDZD7):c.3098C>T (p.Pro1033Leu)	PDZD7 (P1033L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038074	NM_001195263.2(PDZD7):c.3097C>T (p.Pro1033Ser)	PDZD7 (P1033S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1492701	NM_001195263.2(PDZD7):c.3091C>T (p.Arg1031Cys)	PDZD7 (R1031C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714732	NM_001195263.2(PDZD7):c.3083C>A (p.Pro1028His)	PDZD7 (P1028H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011765	NM_001195263.2(PDZD7):c.3079G>A (p.Ala1027Thr)	PDZD7 (A1027T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929883	NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1495806	NM_001195263.2(PDZD7):c.3073A>G (p.Lys1025Glu)	PDZD7 (K1025E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1399667	NM_001195263.2(PDZD7):c.3059_3062del (p.Gln1020fs)	PDZD7 (Q1020fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2972983	NM_001195263.2(PDZD7):c.3045C>T (p.Pro1015=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046058	NM_001195263.2(PDZD7):c.3045del (p.Ser1016fs)	PDZD7 (S1016fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2129549	NM_001195263.2(PDZD7):c.3043C>T (p.Pro1015Ser)	PDZD7 (P1015S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530623	NM_001195263.2(PDZD7):c.3030T>G (p.Thr1010=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163425	NM_001195263.2(PDZD7):c.3026del (p.Pro1009fs)	PDZD7 (P1009fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2744056	NM_001195263.2(PDZD7):c.3024G>A (p.Gln1008=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 968047	NM_001195263.2(PDZD7):c.3003_3022del (p.Thr1002fs)	PDZD7 (T1002fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1977207	NM_001195263.2(PDZD7):c.3021C>T (p.Leu1007=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507443	NM_001195263.2(PDZD7):c.3015G>C (p.Arg1005Ser)	PDZD7 (R1005S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447503	NM_001195263.2(PDZD7):c.3014_3015insACTCCTCCCTCTGATGCCAG (p.Gln1008fs)	PDZD7 (Q1008fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1053359	NM_001195263.2(PDZD7):c.2999C>T (p.Pro1000Leu)	PDZD7 (P1000L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521879	NM_001195263.2(PDZD7):c.2998C>G (p.Pro1000Ala)	PDZD7 (P1000A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005434	NM_001195263.2(PDZD7):c.2992_2993del (p.Gln998fs)	PDZD7 (Q998fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2019964	NM_001195263.2(PDZD7):c.2991C>A (p.Pro997=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071642	NM_001195263.2(PDZD7):c.2968C>T (p.Leu990Phe)	PDZD7 (L990F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758859	NM_001195263.2(PDZD7):c.2964C>T (p.His988=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778671	NM_001195263.2(PDZD7):c.2946T>C (p.Ala982=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076346	NM_001195263.2(PDZD7):c.2928_2945del (p.His977_Ala982del)	PDZD7	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 506083	NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided +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 1555175	NM_001195263.2(PDZD7):c.2916C>T (p.Asp972=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577654	NM_001195263.2(PDZD7):c.2904C>A (p.Gly968=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1513002	NM_001195263.2(PDZD7):c.2902G>T (p.Gly968Cys)	PDZD7 (G968C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933600	NM_001195263.2(PDZD7):c.2900G>C (p.Gly967Ala)	PDZD7 (G967A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911867	NM_001195263.2(PDZD7):c.2895T>C (p.Thr965=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071815	NM_001195263.2(PDZD7):c.2892T>A (p.Leu964=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504661	NM_001195263.2(PDZD7):c.2890C>G (p.Leu964Val)	PDZD7 (L964V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984116	NM_001195263.2(PDZD7):c.2889C>T (p.Ala963=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099505	NM_001195263.2(PDZD7):c.2888C>G (p.Ala963Gly)	PDZD7 (A963G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514800	NM_001195263.2(PDZD7):c.2879A>C (p.Asp960Ala)	PDZD7 (D960A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914746	NM_001195263.2(PDZD7):c.2868C>G (p.Pro956=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2809594	NM_001195263.2(PDZD7):c.2862A>G (p.Pro954=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369762	NM_001195263.2(PDZD7):c.2853dup (p.Pro952fs)	PDZD7 (P952fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1531083	NM_001195263.2(PDZD7):c.2853G>A (p.Gly951=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 939298	NM_001195263.2(PDZD7):c.2851G>A (p.Gly951Arg)	PDZD7 (G951R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1090619	NM_001195263.2(PDZD7):c.2850C>T (p.Pro950=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2022254	NM_001195263.2(PDZD7):c.2847C>T (p.Val949=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645973	NM_001195263.2(PDZD7):c.2847C>A (p.Val949=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494506	NM_001195263.2(PDZD7):c.2846T>A (p.Val949Asp)	PDZD7 (V949D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375079	NM_001195263.2(PDZD7):c.2843G>C (p.Arg948Thr)	PDZD7 (R948T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562236	NM_001195263.2(PDZD7):c.2841C>T (p.Val947=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153389	NM_001195263.2(PDZD7):c.2832G>A (p.Glu944=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108905	NM_001195263.2(PDZD7):c.2827A>G (p.Met943Val)	PDZD7 (M943V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001634	NM_001195263.2(PDZD7):c.2819G>A (p.Arg940Gln)	PDZD7 (R940Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980462	NM_001195263.2(PDZD7):c.2818C>T (p.Arg940Trp)	PDZD7 (R940W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155485	NM_001195263.2(PDZD7):c.2817C>T (p.Ala939=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992902	NM_001195263.2(PDZD7):c.2814G>A (p.Lys938=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920479	NM_001195263.2(PDZD7):c.2807G>A (p.Arg936Gln)	PDZD7 (R936Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006666	NM_001195263.2(PDZD7):c.2794_2806del (p.Arg932fs)	PDZD7 (R932fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1502512	NM_001195263.2(PDZD7):c.2798G>C (p.Arg933Pro)	PDZD7 (R933P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460739	NM_001195263.2(PDZD7):c.2798G>A (p.Arg933Gln)	PDZD7 (R933Q)	Single nucleotide variant (missense variant)	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 1353458	NM_001195263.2(PDZD7):c.2797C>T (p.Arg933Trp)	PDZD7 (R933W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479095	NM_001195263.2(PDZD7):c.2795G>A (p.Arg932His)	PDZD7 (R932H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494838	NM_001195263.2(PDZD7):c.2794C>T (p.Arg932Cys)	PDZD7 (R932C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002353	NM_001195263.2(PDZD7):c.2789C>A (p.Thr930Asn)	PDZD7 (T930N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1538385	NM_001195263.2(PDZD7):c.2781A>G (p.Ala927=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474977	NM_001195263.2(PDZD7):c.2780C>T (p.Ala927Val)	PDZD7 (A927V)	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 1522907	NM_001195263.2(PDZD7):c.2776C>T (p.Arg926Cys)	PDZD7 (R926C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969619	NM_001195263.2(PDZD7):c.2772C>A (p.His924Gln)	PDZD7 (H924Q)	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 1974326	NM_001195263.2(PDZD7):c.2767A>G (p.Thr923Ala)	PDZD7 (T923A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481596	NM_001195263.2(PDZD7):c.2762A>G (p.Gln921Arg)	PDZD7 (Q921R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997409	NM_001195263.2(PDZD7):c.2751_2752del (p.Asn918fs)	PDZD7 (N918fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1140191	NM_001195263.2(PDZD7):c.2751G>A (p.Glu917=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012048	NM_001195263.2(PDZD7):c.2747G>C (p.Gly916Ala)	PDZD7 (G916A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999495	NM_001195263.2(PDZD7):c.2746G>A (p.Gly916Arg)	PDZD7 (G916R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935279	NM_001195263.2(PDZD7):c.2746G>C (p.Gly916Arg)	PDZD7 (G916R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1107807	NM_001195263.2(PDZD7):c.2745C>T (p.Asp915=)	PDZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167430	NM_001195263.2(PDZD7):c.2728G>A (p.Glu910Lys)	PDZD7 (E910K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155654	NM_001195263.2(PDZD7):c.2727C>T (p.Phe909=)	PDZD7	Single nucleotide variant (synonymous variant)	PDZD7-related disorder +1 more	GLikely benign
Select item 1477245	NM_001195263.2(PDZD7):c.2725T>C (p.Phe909Leu)	PDZD7 (F909L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000323	NM_001195263.2(PDZD7):c.2719-3T>G	PDZD7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1602996	NM_001195263.2(PDZD7):c.2719-4C>G	PDZD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 194722	NM_001195263.2(PDZD7):c.2719-9C>A	PDZD7	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1976077	NM_001195263.2(PDZD7):c.2719-10C>T	PDZD7	Single nucleotide variant (intron variant)	not provided	GLikely benign

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