54704[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 198

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 369617	NM_018444.3(PDP1):c.-273T>A	LOC130000734, PDP1	Single nucleotide variant	Pyruvate dehydrogenase phosphatase deficiency +1 more	GBenign
Select item 680341	NM_018444.4(PDP1):c.-80C>T	PDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1238845	NM_018444.4(PDP1):c.-45+107G>T	LOC130000735, PDP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 510887	NM_018444.4(PDP1):c.-45+155C>T	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1691141	NM_018444.4(PDP1):c.-45+287G>C	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673751	NM_018444.4(PDP1):c.-45+358G>A	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186992	NM_018444.4(PDP1):c.-45+639C>G	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221977	NM_018444.4(PDP1):c.-45+655C>T	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214973	NM_018444.4(PDP1):c.-45+732_-45+733insGCCGCCGCCTCCTC	LOC130000735, PDP1	Insertion (intron variant)	not specified	GUncertain significance
Select item 676918	NM_018444.4(PDP1):c.-44-114A>G	PDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2142627	NM_018444.4(PDP1):c.12A>G (p.Pro4=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478331	NM_018444.4(PDP1):c.21G>C (p.Leu7=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180244	NM_018444.4(PDP1):c.30T>C (p.Pro10=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1576342	NM_018444.4(PDP1):c.57G>A (p.Arg19=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 511583	NM_018444.4(PDP1):c.87C>T (p.His29=)	PDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2054458	NM_018444.4(PDP1):c.111G>A (p.Ser37=)	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 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 214969	NM_018444.4(PDP1):c.128G>A (p.Arg43Gln)	PDP1 (R43Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1103750	NM_018444.4(PDP1):c.154T>C (p.Tyr52His)	PDP1 (Y52H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 762458	NM_018444.4(PDP1):c.171G>A (p.Arg57=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1441866	NM_018444.4(PDP1):c.214G>T (p.Ala72Ser)	PDP1 (A72S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370920	NM_018444.4(PDP1):c.247C>A (p.Pro83Thr)	PDP1 (P108T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 515992	NM_018444.4(PDP1):c.261C>T (p.Ser87=)	PDP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 853847	NM_018444.4(PDP1):c.263T>C (p.Ile88Thr)	PDP1 (I88T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4664	NM_018444.4(PDP1):c.277G>T (p.Glu93Ter)	PDP1 (E93* +1 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase phosphatase deficiency	GPathogenic
Select item 1090200	NM_018444.4(PDP1):c.297A>C (p.Pro99=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195439	NM_018444.4(PDP1):c.306C>T (p.Asp102=)	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 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 214974	NM_018444.4(PDP1):c.328C>G (p.Leu110Val)	PDP1 (L110V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1671419	NM_018444.4(PDP1):c.351G>T (p.Leu117=)	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 1424404	NM_018444.4(PDP1):c.362C>T (p.Ala121Val)	PDP1 (A121V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1447615	NM_018444.4(PDP1):c.377G>A (p.Arg126Gln)	PDP1 (R151Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516461	NM_018444.4(PDP1):c.418T>C (p.Leu140=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2167131	NM_018444.4(PDP1):c.444T>C (p.Gly148=)	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 1486444	NM_018444.4(PDP1):c.457C>T (p.Gln153Ter)	PDP1 (Q153* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 422914	NM_018444.4(PDP1):c.467_547delinsCT (p.Ser156fs)	PDP1 (S181fs +1 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1989555	NM_018444.4(PDP1):c.477C>T (p.Leu159=)	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 982568	NM_018444.4(PDP1):c.500dup (p.Leu167fs)	PDP1 (L167fs +1 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase phosphatase deficiency	GPathogenic
Select item 2028085	NM_018444.4(PDP1):c.498T>G (p.Ser166=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2740031	NM_018444.4(PDP1):c.510T>C (p.His170=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406005	NM_018444.4(PDP1):c.515C>T (p.Thr172Ile)	PDP1 (T172I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363942	NM_018444.4(PDP1):c.546C>T (p.Ser182=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078705	NM_018444.4(PDP1):c.550C>T (p.Arg184Trp)	PDP1 (R209W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 1897127	NM_018444.4(PDP1):c.555A>G (p.Ala185=)	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 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 1981510	NM_018444.4(PDP1):c.597C>T (p.Tyr199=)	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
Select item 1946326	NM_018444.4(PDP1):c.618A>G (p.Lys206=)	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 1085315	NM_018444.4(PDP1):c.654G>A (p.Glu218=)	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 742858	NM_018444.4(PDP1):c.681G>A (p.Ser227=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2161676	NM_018444.4(PDP1):c.690T>C (p.Ile230=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 363943	NM_018444.4(PDP1):c.717C>G (p.Ala239=)	PDP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 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 1935268	NM_018444.4(PDP1):c.753G>A (p.Ala251=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2051176	NM_018444.4(PDP1):c.831C>T (p.Ala277=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4663	NM_018444.4(PDP1):c.851_853del (p.Leu284del)	PDP1 (L284del +1 more)	Deletion (inframe_deletion)	Pyruvate dehydrogenase phosphatase deficiency	GPathogenic
Select item 750269	NM_018444.4(PDP1):c.855T>C (p.His285=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 654429	NM_018444.4(PDP1):c.870C>T (p.Gly290=)	PDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2