ClinVar for Gene (Select 54704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305585	NM_018444.4(PDP1):c.733A>G (p.Asn245Asp)	PDP1 (N245D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305584	NM_018444.4(PDP1):c.436C>T (p.His146Tyr)	PDP1 (H146Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305583	NM_018444.4(PDP1):c.551G>A (p.Arg184Gln)	PDP1 (R184Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211030	NM_018444.4(PDP1):c.905A>G (p.Asp302Gly)	PDP1 (D302G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211028	NM_018444.4(PDP1):c.1447A>G (p.Ile483Val)	PDP1 (I483V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2909170	NM_018444.4(PDP1):c.1104G>A (p.Val368=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856205	NM_018444.4(PDP1):c.1398A>G (p.Arg466=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800897	NM_018444.4(PDP1):c.456C>T (p.Ser152=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778049	NM_018444.4(PDP1):c.557T>A (p.Leu186Gln)	PDP1 (L186Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740031	NM_018444.4(PDP1):c.510T>C (p.His170=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684548	GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3	CCNE2, CDH17 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2617630	NM_018444.4(PDP1):c.1567G>C (p.Val523Leu)	PDP1 (V523L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535409	NM_018444.4(PDP1):c.508C>T (p.His170Tyr)	PDP1 (H170Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532250	NM_018444.4(PDP1):c.1495C>T (p.Arg499Cys)	PDP1 (R524C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532116	NM_018444.4(PDP1):c.584A>G (p.His195Arg)	PDP1 (H195R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 2427439	NC_000008.10:g.(?_94767143)_(94935901_?)del	PDP1, TMEM67	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2426473	NC_000008.10:g.(?_94798431)_(94935901_?)dup	PDP1, TMEM67	Duplication	not provided	GUncertain significance
Select item 2416190	NM_018444.4(PDP1):c.1342G>A (p.Val448Ile)	PDP1 (V448I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387373	NM_018444.4(PDP1):c.155A>G (p.Tyr52Cys)	PDP1 (Y77C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327140	NM_018444.4(PDP1):c.320G>C (p.Ser107Thr)	PDP1 (S107T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321236	NM_018444.4(PDP1):c.1270A>G (p.Met424Val)	PDP1 (M449V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318297	NM_018444.4(PDP1):c.1277G>C (p.Arg426Thr)	PDP1 (R451T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311582	NM_018444.4(PDP1):c.1444C>T (p.Leu482Phe)	PDP1 (L482F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307297	NM_018444.4(PDP1):c.551G>T (p.Arg184Leu)	PDP1 (R209L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306040	NM_018444.4(PDP1):c.1153A>T (p.Ile385Phe)	PDP1 (I385F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303606	NM_018444.4(PDP1):c.1417T>C (p.Phe473Leu)	PDP1 (F498L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274143	NM_018444.4(PDP1):c.814G>A (p.Ala272Thr)	PDP1 (A297T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198387	NM_018444.4(PDP1):c.689T>C (p.Ile230Thr)	PDP1 (I230T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195439	NM_018444.4(PDP1):c.306C>T (p.Asp102=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190764	NM_018444.4(PDP1):c.1119A>G (p.Pro373=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190521	NM_018444.4(PDP1):c.1130A>G (p.Asn377Ser)	PDP1 (N402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180244	NM_018444.4(PDP1):c.30T>C (p.Pro10=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175773	NM_018444.4(PDP1):c.257A>G (p.Asn86Ser)	PDP1 (N111S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167131	NM_018444.4(PDP1):c.444T>C (p.Gly148=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166335	NM_018444.4(PDP1):c.354T>C (p.Pro118=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162554	NM_018444.4(PDP1):c.368T>C (p.Ile123Thr)	PDP1 (I123T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161676	NM_018444.4(PDP1):c.690T>C (p.Ile230=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148274	NM_018444.4(PDP1):c.307G>A (p.Gly103Ser)	PDP1 (G103S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142627	NM_018444.4(PDP1):c.12A>G (p.Pro4=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134689	NM_018444.4(PDP1):c.657T>C (p.Leu219=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122695	NM_018444.4(PDP1):c.1283A>G (p.Asp428Gly)	PDP1 (D428G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122097	NM_018444.4(PDP1):c.1346G>A (p.Gly449Asp)	PDP1 (G449D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078705	NM_018444.4(PDP1):c.550C>T (p.Arg184Trp)	PDP1 (R209W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2071700	NM_018444.4(PDP1):c.56G>C (p.Arg19Thr)	PDP1 (R19T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070346	NM_018444.4(PDP1):c.110C>T (p.Ser37Leu)	PDP1 (S37L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060382	NM_018444.4(PDP1):c.1321C>A (p.His441Asn)	PDP1 (H466N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055079	NM_018444.4(PDP1):c.1214G>A (p.Arg405Gln)	PDP1 (R430Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054458	NM_018444.4(PDP1):c.111G>A (p.Ser37=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051176	NM_018444.4(PDP1):c.831C>T (p.Ala277=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049175	NM_018444.4(PDP1):c.627dup (p.Asn210Ter)	PDP1 (N210* +1 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2044518	NM_018444.4(PDP1):c.651A>G (p.Gln217=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028085	NM_018444.4(PDP1):c.498T>G (p.Ser166=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024290	NM_018444.4(PDP1):c.1500C>T (p.Leu500=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010062	NM_018444.4(PDP1):c.871G>T (p.Asp291Tyr)	PDP1 (D291Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005334	NM_018444.4(PDP1):c.1521T>C (p.Pro507=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001166	NM_018444.4(PDP1):c.935A>C (p.Asn312Thr)	PDP1 (N337T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998824	NM_018444.4(PDP1):c.123G>T (p.Gln41His)	PDP1 (Q66H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989555	NM_018444.4(PDP1):c.477C>T (p.Leu159=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987313	NM_018444.4(PDP1):c.1432G>A (p.Ala478Thr)	PDP1 (A503T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981510	NM_018444.4(PDP1):c.597C>T (p.Tyr199=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978948	NM_018444.4(PDP1):c.967G>A (p.Glu323Lys)	PDP1 (E348K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1946326	NM_018444.4(PDP1):c.618A>G (p.Lys206=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935268	NM_018444.4(PDP1):c.753G>A (p.Ala251=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934172	NM_018444.4(PDP1):c.111G>T (p.Ser37=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930101	NM_018444.4(PDP1):c.897G>A (p.Gln299=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897143	NM_018444.4(PDP1):c.970C>T (p.Arg324Trp)	PDP1 (R324W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1897127	NM_018444.4(PDP1):c.555A>G (p.Ala185=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1717594	NM_018444.4(PDP1):c.1160C>G (p.Pro387Arg)	PDP1 (P387R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713816	NM_018444.4(PDP1):c.727C>T (p.Leu243Phe)	PDP1 (L243F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712145	NM_018444.4(PDP1):c.-3G>A	PDP1 (A25T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1704128	NM_018444.4(PDP1):c.1504A>G (p.Lys502Glu)	PDP1 (K502E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1697134	NM_018444.4(PDP1):c.1333C>T (p.Pro445Ser)	PDP1 (P445S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691215	NM_018444.4(PDP1):c.1228G>T (p.Asp410Tyr)	PDP1 (D410Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691141	NM_018444.4(PDP1):c.-45+287G>C	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671419	NM_018444.4(PDP1):c.351G>T (p.Leu117=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630903	NM_018444.4(PDP1):c.1416A>G (p.Val472=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627169	NM_018444.4(PDP1):c.483T>C (p.Tyr161=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1619060	NM_018444.4(PDP1):c.1446C>T (p.Leu482=)	PDP1	Single nucleotide variant (synonymous variant)	PDP1-related disorder +1 more	GLikely benign
Select item 1618475	NM_018444.4(PDP1):c.972G>C (p.Arg324=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589360	NM_018444.4(PDP1):c.1455C>T (p.His485=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576342	NM_018444.4(PDP1):c.57G>A (p.Arg19=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568803	NM_018444.4(PDP1):c.990A>G (p.Pro330=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563937	NM_018444.4(PDP1):c.1233G>A (p.Lys411=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1525448	NM_018444.4(PDP1):c.202G>A (p.Gly68Arg)	PDP1 (G93R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1517531	NM_018444.4(PDP1):c.1611A>T (p.Glu537Asp)	PDP1 (E562D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506920	NM_018444.4(PDP1):c.1552A>G (p.Ile518Val)	PDP1 (I543V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489443	NM_018444.4(PDP1):c.803C>T (p.Ala268Val)	PDP1 (A268V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486444	NM_018444.4(PDP1):c.457C>T (p.Gln153Ter)	PDP1 (Q153* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1478331	NM_018444.4(PDP1):c.21G>C (p.Leu7=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464519	NM_018444.4(PDP1):c.600T>A (p.Phe200Leu)	PDP1 (F225L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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