ClinVar for Gene (Select 23037) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349926	NM_178140.4(PDZD2):c.2304G>T (p.Met768Ile)	PDZD2 (M768I)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GUncertain significance
Select item 3345346	NM_178140.4(PDZD2):c.822G>T (p.Lys274Asn)	PDZD2 (K274N)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GUncertain significance
Select item 3345292	NM_178140.4(PDZD2):c.6994T>C (p.Phe2332Leu)	PDZD2 (F2332L)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GUncertain significance
Select item 3344766	NM_178140.4(PDZD2):c.3598A>C (p.Ser1200Arg)	PDZD2 (S1200R)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GUncertain significance
Select item 3305655	NM_178140.4(PDZD2):c.451G>A (p.Val151Ile)	PDZD2 (V151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305654	NM_178140.4(PDZD2):c.5141T>C (p.Val1714Ala)	PDZD2 (V1714A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305653	NM_178140.4(PDZD2):c.6253G>C (p.Glu2085Gln)	PDZD2 (E2085Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305652	NM_178140.4(PDZD2):c.4571C>G (p.Ser1524Cys)	PDZD2 (S1524C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305650	NM_178140.4(PDZD2):c.5858C>T (p.Ser1953Phe)	PDZD2 (S1953F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305649	NM_178140.4(PDZD2):c.2918A>G (p.Glu973Gly)	PDZD2 (E973G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305648	NM_178140.4(PDZD2):c.1595T>C (p.Met532Thr)	PDZD2 (M532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305647	NM_178140.4(PDZD2):c.6706G>A (p.Glu2236Lys)	PDZD2 (E2236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305646	NM_178140.4(PDZD2):c.280G>C (p.Gly94Arg)	PDZD2 (G94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305645	NM_178140.4(PDZD2):c.7796C>T (p.Ser2599Leu)	PDZD2 (S2599L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305644	NM_178140.4(PDZD2):c.6739C>G (p.Arg2247Gly)	PDZD2 (R2247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305643	NM_178140.4(PDZD2):c.8146C>T (p.Arg2716Trp)	LOC126807343, PDZD2 (R2716W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305642	NM_178140.4(PDZD2):c.890C>T (p.Thr297Ile)	PDZD2 (T297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305641	NM_178140.4(PDZD2):c.5284G>A (p.Val1762Met)	PDZD2 (V1762M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305639	NM_178140.4(PDZD2):c.2932A>G (p.Arg978Gly)	PDZD2 (R978G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305638	NM_178140.4(PDZD2):c.5387G>C (p.Arg1796Thr)	PDZD2 (R1796T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305637	NM_178140.4(PDZD2):c.1214G>C (p.Arg405Pro)	PDZD2 (R405P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305636	NM_178140.4(PDZD2):c.5684A>G (p.Lys1895Arg)	PDZD2 (K1895R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305635	NM_178140.4(PDZD2):c.6248G>A (p.Arg2083His)	PDZD2 (R2083H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305634	NM_178140.4(PDZD2):c.7040A>G (p.Asn2347Ser)	PDZD2 (N2347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305633	NM_178140.4(PDZD2):c.3245G>A (p.Ser1082Asn)	PDZD2 (S1082N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305632	NM_178140.4(PDZD2):c.4566C>A (p.Asn1522Lys)	PDZD2 (N1522K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305631	NM_178140.4(PDZD2):c.1361C>T (p.Ala454Val)	PDZD2 (A454V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305630	NM_178140.4(PDZD2):c.5161C>T (p.Pro1721Ser)	PDZD2 (P1721S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305629	NM_178140.4(PDZD2):c.1571G>A (p.Arg524Gln)	PDZD2 (R524Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305628	NM_178140.4(PDZD2):c.5294C>G (p.Pro1765Arg)	PDZD2 (P1765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305627	NM_178140.4(PDZD2):c.6119C>T (p.Ala2040Val)	PDZD2 (A2040V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238744	NM_178140.4(PDZD2):c.2000T>G (p.Leu667Ter)	PDZD2 (L667*)	Single nucleotide variant (nonsense)	Lissencephaly	GUncertain significance
Select item 3211169	NM_178140.4(PDZD2):c.914A>G (p.Asn305Ser)	PDZD2 (N305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211168	NM_178140.4(PDZD2):c.856G>C (p.Val286Leu)	PDZD2 (V286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211167	NM_178140.4(PDZD2):c.8479C>T (p.Pro2827Ser)	PDZD2 (P2827S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211166	NM_178140.4(PDZD2):c.845A>C (p.Glu282Ala)	PDZD2 (E282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211165	NM_178140.4(PDZD2):c.8417A>G (p.Lys2806Arg)	PDZD2 (K2806R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211164	NM_178140.4(PDZD2):c.83A>T (p.Asp28Val)	PDZD2 (D28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211163	NM_178140.4(PDZD2):c.8326C>T (p.Pro2776Ser)	PDZD2 (P2776S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211162	NM_178140.4(PDZD2):c.8239G>A (p.Asp2747Asn)	PDZD2 (D2747N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211161	NM_178140.4(PDZD2):c.8029G>A (p.Ala2677Thr)	LOC126807343, PDZD2 (A2677T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211160	NM_178140.4(PDZD2):c.781G>A (p.Gly261Ser)	PDZD2 (G261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211159	NM_178140.4(PDZD2):c.7789G>A (p.Val2597Met)	PDZD2 (V2597M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211158	NM_178140.4(PDZD2):c.757G>A (p.Gly253Ser)	PDZD2 (G253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211157	NM_178140.4(PDZD2):c.7515G>A (p.Pro2505=)	PDZD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3211156	NM_178140.4(PDZD2):c.7409G>A (p.Arg2470His)	PDZD2 (R2470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211155	NM_178140.4(PDZD2):c.6961T>C (p.Tyr2321His)	PDZD2 (Y2321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211154	NM_178140.4(PDZD2):c.6868C>T (p.Leu2290Phe)	PDZD2 (L2290F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211153	NM_178140.4(PDZD2):c.6644C>A (p.Thr2215Asn)	PDZD2 (T2215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211152	NM_178140.4(PDZD2):c.6622G>C (p.Gly2208Arg)	PDZD2 (G2208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211151	NM_178140.4(PDZD2):c.6619T>G (p.Ser2207Ala)	PDZD2 (S2207A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211149	NM_178140.4(PDZD2):c.659G>A (p.Gly220Glu)	PDZD2 (G220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211148	NM_178140.4(PDZD2):c.6407T>C (p.Val2136Ala)	PDZD2 (V2136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211147	NM_178140.4(PDZD2):c.623G>A (p.Arg208Gln)	PDZD2 (R208Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211146	NM_178140.4(PDZD2):c.6178C>T (p.His2060Tyr)	PDZD2 (H2060Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211145	NM_178140.4(PDZD2):c.6139G>A (p.Val2047Met)	PDZD2 (V2047M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211144	NM_178140.4(PDZD2):c.6104C>T (p.Pro2035Leu)	PDZD2 (P2035L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211143	NM_178140.4(PDZD2):c.6098C>G (p.Ser2033Cys)	PDZD2 (S2033C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211142	NM_178140.4(PDZD2):c.6028G>A (p.Asp2010Asn)	PDZD2 (D2010N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211141	NM_178140.4(PDZD2):c.5716G>A (p.Val1906Met)	PDZD2 (V1906M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211140	NM_178140.4(PDZD2):c.5648C>T (p.Pro1883Leu)	PDZD2 (P1883L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211139	NM_178140.4(PDZD2):c.5159G>C (p.Ser1720Thr)	PDZD2 (S1720T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211138	NM_178140.4(PDZD2):c.5039C>T (p.Ala1680Val)	PDZD2 (A1680V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211137	NM_178140.4(PDZD2):c.5033C>T (p.Thr1678Ile)	PDZD2 (T1678I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211136	NM_178140.4(PDZD2):c.4793A>G (p.Gln1598Arg)	PDZD2 (Q1598R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211135	NM_178140.4(PDZD2):c.4723G>T (p.Asp1575Tyr)	PDZD2 (D1575Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211134	NM_178140.4(PDZD2):c.4526C>G (p.Pro1509Arg)	PDZD2 (P1509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211133	NM_178140.4(PDZD2):c.4385C>A (p.Ala1462Asp)	PDZD2 (A1462D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211131	NM_178140.4(PDZD2):c.4216G>A (p.Ala1406Thr)	PDZD2 (A1406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211130	NM_178140.4(PDZD2):c.4073A>G (p.His1358Arg)	PDZD2 (H1358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211129	NM_178140.4(PDZD2):c.3505G>A (p.Ala1169Thr)	PDZD2 (A1169T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211128	NM_178140.4(PDZD2):c.3472A>G (p.Arg1158Gly)	PDZD2 (R1158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211126	NM_178140.4(PDZD2):c.3239G>A (p.Gly1080Glu)	PDZD2 (G1080E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211125	NM_178140.4(PDZD2):c.2486G>A (p.Arg829His)	PDZD2 (R829H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211124	NM_178140.4(PDZD2):c.2356G>A (p.Val786Ile)	PDZD2 (V786I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211123	NM_178140.4(PDZD2):c.2119G>A (p.Asp707Asn)	PDZD2 (D707N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211121	NM_178140.4(PDZD2):c.2105C>T (p.Ser702Leu)	PDZD2 (S702L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211120	NM_178140.4(PDZD2):c.2050C>A (p.Pro684Thr)	PDZD2 (P684T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211119	NM_178140.4(PDZD2):c.1441G>A (p.Gly481Ser)	PDZD2 (G481S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211118	NM_178140.4(PDZD2):c.124C>A (p.Leu42Met)	PDZD2 (L42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211117	NM_178140.4(PDZD2):c.1220C>T (p.Ala407Val)	PDZD2 (A407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060587	NM_178140.4(PDZD2):c.3297G>A (p.Thr1099=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GBenign
Select item 3060569	NM_178140.4(PDZD2):c.4029C>A (p.Asp1343Glu)	PDZD2 (D1343E)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GBenign
Select item 3060366	NM_178140.4(PDZD2):c.4254G>C (p.Gly1418=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GBenign
Select item 3060304	NM_178140.4(PDZD2):c.7785G>A (p.Ser2595=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GBenign
Select item 3059334	NM_178140.4(PDZD2):c.3180G>A (p.Thr1060=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GBenign
Select item 3058926	NM_178140.4(PDZD2):c.6740G>A (p.Arg2247Gln)	PDZD2 (R2247Q)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GBenign
Select item 3056822	NM_178140.4(PDZD2):c.2194A>C (p.Asn732His)	PDZD2 (N732H)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GLikely benign
Select item 3056796	NM_178140.4(PDZD2):c.3040G>A (p.Val1014Ile)	PDZD2 (V1014I)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GLikely benign
Select item 3056789	NM_178140.4(PDZD2):c.3772C>A (p.Gln1258Lys)	PDZD2 (Q1258K)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GBenign
Select item 3056477	NM_178140.4(PDZD2):c.4946C>T (p.Ala1649Val)	PDZD2 (A1649V)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GBenign
Select item 3056159	NM_178140.4(PDZD2):c.7797G>T (p.Ser2599=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GBenign
Select item 3055777	NM_178140.4(PDZD2):c.3876G>A (p.Pro1292=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GBenign
Select item 3055687	NM_178140.4(PDZD2):c.7794A>G (p.Gly2598=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GBenign
Select item 3055434	NM_178140.4(PDZD2):c.2961G>A (p.Gly987=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GBenign
Select item 3053793	NM_178140.4(PDZD2):c.479A>T (p.Tyr160Phe)	PDZD2 (Y160F)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GLikely benign
Select item 3053405	NM_178140.4(PDZD2):c.3927G>A (p.Ser1309=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GLikely benign
Select item 3051677	NM_178140.4(PDZD2):c.2896G>A (p.Asp966Asn)	PDZD2 (D966N)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GLikely benign
Select item 3051576	NM_178140.4(PDZD2):c.3702C>T (p.Asp1234=)	PDZD2	Single nucleotide variant (synonymous variant)	PDZD2-related disorder	GLikely benign
Select item 3051045	NM_178140.4(PDZD2):c.6758T>C (p.Val2253Ala)	PDZD2 (V2253A)	Single nucleotide variant (missense variant)	PDZD2-related disorder	GLikely benign

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