"Ambry Genetics"[submitter] AND "PDZD2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2338404	NM_178140.4(PDZD2):c.271C>T (p.Pro91Ser)	PDZD2 (P91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316104	NM_178140.4(PDZD2):c.292G>A (p.Glu98Lys)	PDZD2 (E98K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321206	NM_178140.4(PDZD2):c.299G>T (p.Arg100Leu)	PDZD2 (R100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395522	NM_178140.4(PDZD2):c.415C>T (p.Arg139Trp)	PDZD2 (R139W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394400	NM_178140.4(PDZD2):c.416G>A (p.Arg139Gln)	PDZD2 (R139Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286151	NM_178140.4(PDZD2):c.533G>A (p.Arg178His)	PDZD2 (R178H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359054	NM_178140.4(PDZD2):c.577A>T (p.Asn193Tyr)	PDZD2 (N193Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477992	NM_178140.4(PDZD2):c.745G>A (p.Glu249Lys)	PDZD2 (E249K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276852	NM_178140.4(PDZD2):c.844G>C (p.Glu282Gln)	PDZD2 (E282Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234608	NM_178140.4(PDZD2):c.922C>T (p.Arg308Cys)	PDZD2 (R308C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321810	NM_178140.4(PDZD2):c.926G>A (p.Arg309His)	PDZD2 (R309H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209733	NM_178140.4(PDZD2):c.1194G>C (p.Glu398Asp)	PDZD2 (E398D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387224	NM_178140.4(PDZD2):c.1219G>A (p.Ala407Thr)	PDZD2 (A407T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478838	NM_178140.4(PDZD2):c.1229T>C (p.Met410Thr)	PDZD2 (M410T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513698	NM_178140.4(PDZD2):c.1366G>A (p.Gly456Arg)	PDZD2 (G456R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216889	NM_178140.4(PDZD2):c.1378G>A (p.Glu460Lys)	PDZD2 (E460K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362319	NM_178140.4(PDZD2):c.1408A>G (p.Met470Val)	PDZD2 (M470V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226961	NM_178140.4(PDZD2):c.1468G>A (p.Glu490Lys)	PDZD2 (E490K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365388	NM_178140.4(PDZD2):c.1501C>G (p.Leu501Val)	PDZD2 (L501V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232193	NM_178140.4(PDZD2):c.1525G>T (p.Val509Leu)	PDZD2 (V509L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375746	NM_178140.4(PDZD2):c.1530C>A (p.His510Gln)	PDZD2 (H510Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394611	NM_178140.4(PDZD2):c.1570C>T (p.Arg524Trp)	PDZD2 (R524W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221206	NM_178140.4(PDZD2):c.1634C>T (p.Pro545Leu)	PDZD2 (P545L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364893	NM_178140.4(PDZD2):c.1687T>G (p.Ser563Ala)	PDZD2 (S563A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321456	NM_178140.4(PDZD2):c.1739G>A (p.Arg580Gln)	PDZD2 (R580Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219310	NM_178140.4(PDZD2):c.1822A>G (p.Ile608Val)	PDZD2 (I608V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226519	NM_178140.4(PDZD2):c.1826G>A (p.Arg609His)	PDZD2 (R609H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332224	NM_178140.4(PDZD2):c.1855A>G (p.Ile619Val)	PDZD2 (I619V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283446	NM_178140.4(PDZD2):c.1870T>G (p.Ser624Ala)	PDZD2 (S624A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251029	NM_178140.4(PDZD2):c.1885G>A (p.Gly629Arg)	PDZD2 (G629R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382449	NM_178140.4(PDZD2):c.2009G>A (p.Arg670His)	PDZD2 (R670H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266399	NM_178140.4(PDZD2):c.2045C>T (p.Ser682Leu)	PDZD2 (S682L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264004	NM_178140.4(PDZD2):c.2062A>G (p.Ser688Gly)	PDZD2 (S688G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2468785	NM_178140.4(PDZD2):c.2071G>A (p.Ala691Thr)	PDZD2 (A691T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344479	NM_178140.4(PDZD2):c.2108C>T (p.Ala703Val)	PDZD2 (A703V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264231	NM_178140.4(PDZD2):c.2161C>T (p.Pro721Ser)	PDZD2 (P721S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519472	NM_178140.4(PDZD2):c.2518T>C (p.Ser840Pro)	PDZD2 (S840P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474123	NM_178140.4(PDZD2):c.2519C>G (p.Ser840Cys)	PDZD2 (S840C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562288	NM_178140.4(PDZD2):c.2617G>T (p.Val873Phe)	PDZD2 (V873F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294888	NM_178140.4(PDZD2):c.2687G>C (p.Ser896Thr)	PDZD2 (S896T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603033	NM_178140.4(PDZD2):c.2723C>A (p.Ser908Tyr)	PDZD2 (S908Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615383	NM_178140.4(PDZD2):c.2771T>C (p.Leu924Pro)	PDZD2 (L924P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594256	NM_178140.4(PDZD2):c.2782C>T (p.Arg928Trp)	PDZD2 (R928W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327987	NM_178140.4(PDZD2):c.3059G>C (p.Arg1020Pro)	PDZD2 (R1020P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591594	NM_178140.4(PDZD2):c.3145A>G (p.Met1049Val)	PDZD2 (M1049V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2529667	NM_178140.4(PDZD2):c.3346T>C (p.Ser1116Pro)	PDZD2 (S1116P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478078	NM_178140.4(PDZD2):c.3356G>T (p.Arg1119Ile)	PDZD2 (R1119I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599167	NM_178140.4(PDZD2):c.3432C>A (p.Asn1144Lys)	PDZD2 (N1144K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337752	NM_178140.4(PDZD2):c.3516G>T (p.Gln1172His)	PDZD2 (Q1172H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337753	NM_178140.4(PDZD2):c.3517C>A (p.Pro1173Thr)	PDZD2 (P1173T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612810	NM_178140.4(PDZD2):c.3559A>G (p.Thr1187Ala)	PDZD2 (T1187A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333028	NM_178140.4(PDZD2):c.3572G>A (p.Cys1191Tyr)	PDZD2 (C1191Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525271	NM_178140.4(PDZD2):c.3580A>G (p.Thr1194Ala)	PDZD2 (T1194A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288285	NM_178140.4(PDZD2):c.3733G>A (p.Ala1245Thr)	PDZD2 (A1245T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514301	NM_178140.4(PDZD2):c.3757T>C (p.Ser1253Pro)	PDZD2 (S1253P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495265	NM_178140.4(PDZD2):c.3880G>C (p.Glu1294Gln)	PDZD2 (E1294Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553044	NM_178140.4(PDZD2):c.3974G>A (p.Gly1325Glu)	PDZD2 (G1325E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476334	NM_178140.4(PDZD2):c.4001C>T (p.Thr1334Ile)	PDZD2 (T1334I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233663	NM_178140.4(PDZD2):c.4093A>T (p.Thr1365Ser)	PDZD2 (T1365S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461117	NM_178140.4(PDZD2):c.4153G>A (p.Val1385Met)	PDZD2 (V1385M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591825	NM_178140.4(PDZD2):c.4217C>T (p.Ala1406Val)	PDZD2 (A1406V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455977	NM_178140.4(PDZD2):c.4250G>C (p.Gly1417Ala)	PDZD2 (G1417A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2374664	NM_178140.4(PDZD2):c.4420C>A (p.Pro1474Thr)	PDZD2 (P1474T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389130	NM_178140.4(PDZD2):c.4427C>T (p.Pro1476Leu)	PDZD2 (P1476L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529279	NM_178140.4(PDZD2):c.4438A>C (p.Thr1480Pro)	PDZD2 (T1480P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328047	NM_178140.4(PDZD2):c.4505C>T (p.Ser1502Leu)	PDZD2 (S1502L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408635	NM_178140.4(PDZD2):c.4519A>G (p.Ile1507Val)	PDZD2 (I1507V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2360553	NM_178140.4(PDZD2):c.4528G>A (p.Asp1510Asn)	PDZD2 (D1510N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248216	NM_178140.4(PDZD2):c.4672T>G (p.Ser1558Ala)	PDZD2 (S1558A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248217	NM_178140.4(PDZD2):c.4673C>A (p.Ser1558Tyr)	PDZD2 (S1558Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543756	NM_178140.4(PDZD2):c.4742G>A (p.Arg1581His)	PDZD2 (R1581H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546128	NM_178140.4(PDZD2):c.4758G>C (p.Leu1586Phe)	PDZD2 (L1586F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403482	NM_178140.4(PDZD2):c.4814G>A (p.Arg1605His)	PDZD2 (R1605H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588181	NM_178140.4(PDZD2):c.4835C>G (p.Ser1612Trp)	PDZD2 (S1612W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383798	NM_178140.4(PDZD2):c.4838G>A (p.Ser1613Asn)	PDZD2 (S1613N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463625	NM_178140.4(PDZD2):c.4867A>G (p.Ile1623Val)	PDZD2 (I1623V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2539834	NM_178140.4(PDZD2):c.4868T>C (p.Ile1623Thr)	PDZD2 (I1623T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481213	NM_178140.4(PDZD2):c.4888G>C (p.Val1630Leu)	PDZD2 (V1630L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228066	NM_178140.4(PDZD2):c.4910C>T (p.Thr1637Ile)	PDZD2 (T1637I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557559	NM_178140.4(PDZD2):c.4936C>G (p.Arg1646Gly)	PDZD2 (R1646G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209105	NM_178140.4(PDZD2):c.5116A>G (p.Met1706Val)	PDZD2 (M1706V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2398204	NM_178140.4(PDZD2):c.5162C>T (p.Pro1721Leu)	PDZD2 (P1721L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293880	NM_178140.4(PDZD2):c.5182C>G (p.Pro1728Ala)	PDZD2 (P1728A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320220	NM_178140.4(PDZD2):c.5186A>G (p.Asn1729Ser)	PDZD2 (N1729S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462120	NM_178140.4(PDZD2):c.5207A>G (p.His1736Arg)	PDZD2 (H1736R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2249507	NM_178140.4(PDZD2):c.5267G>T (p.Ser1756Ile)	PDZD2 (S1756I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239366	NM_178140.4(PDZD2):c.5272T>C (p.Ser1758Pro)	PDZD2 (S1758P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526079	NM_178140.4(PDZD2):c.5352T>A (p.Asp1784Glu)	PDZD2 (D1784E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247360	NM_178140.4(PDZD2):c.5414T>G (p.Ile1805Arg)	PDZD2 (I1805R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593516	NM_178140.4(PDZD2):c.5457G>C (p.Glu1819Asp)	PDZD2 (E1819D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253037	NM_178140.4(PDZD2):c.5460G>C (p.Lys1820Asn)	PDZD2 (K1820N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334779	NM_178140.4(PDZD2):c.5495C>A (p.Ser1832Tyr)	PDZD2 (S1832Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601347	NM_178140.4(PDZD2):c.5533G>A (p.Val1845Ile)	PDZD2 (V1845I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339494	NM_178140.4(PDZD2):c.5550C>A (p.Ser1850Arg)	PDZD2 (S1850R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375079	NM_178140.4(PDZD2):c.5578A>G (p.Asn1860Asp)	PDZD2 (N1860D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339495	NM_178140.4(PDZD2):c.5583G>C (p.Lys1861Asn)	PDZD2 (K1861N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341219	NM_178140.4(PDZD2):c.5839A>G (p.Thr1947Ala)	PDZD2 (T1947A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2335375	NM_178140.4(PDZD2):c.5846C>G (p.Ala1949Gly)	PDZD2 (A1949G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547497	NM_178140.4(PDZD2):c.5899T>G (p.Ser1967Ala)	PDZD2 (S1967A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554848	NM_178140.4(PDZD2):c.6085C>A (p.Pro2029Thr)	PDZD2 (P2029T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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