ClinVar for Gene (Select 84939) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311796	NM_001369789.1(PWWP3A):c.262A>G (p.Arg88Gly)	PWWP3A (R88G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311795	NM_001369789.1(PWWP3A):c.860A>G (p.Glu287Gly)	PWWP3A (E164G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311794	NM_001369789.1(PWWP3A):c.209C>T (p.Ser70Leu)	PWWP3A (S70L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3150018	NM_001369789.1(PWWP3A):c.848C>T (p.Pro283Leu)	PWWP3A (P283L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150017	NM_001369789.1(PWWP3A):c.835A>G (p.Ser279Gly)	PWWP3A (S156G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150016	NM_001369789.1(PWWP3A):c.622C>T (p.His208Tyr)	PWWP3A (H208Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150015	NM_001369789.1(PWWP3A):c.592G>T (p.Ala198Ser)	PWWP3A (A75S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150014	NM_001369789.1(PWWP3A):c.566C>T (p.Pro189Leu)	PWWP3A (P189L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150012	NM_001369789.1(PWWP3A):c.433G>A (p.Gly145Ser)	PWWP3A (G145S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150011	NM_001369789.1(PWWP3A):c.403T>G (p.Ser135Ala)	PWWP3A (S135A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150010	NM_001369789.1(PWWP3A):c.386C>T (p.Ser129Leu)	PWWP3A (S61L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150009	NM_001369789.1(PWWP3A):c.383C>T (p.Ser128Phe)	PWWP3A (S60F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150008	NM_001369789.1(PWWP3A):c.349C>T (p.Arg117Trp)	PWWP3A (R117W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150007	NM_001369789.1(PWWP3A):c.348C>G (p.Asp116Glu)	PWWP3A (D116E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150006	NM_001369789.1(PWWP3A):c.289G>A (p.Val97Ile)	PWWP3A (V29I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150005	NM_001369789.1(PWWP3A):c.274C>T (p.Arg92Cys)	PWWP3A (R24C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150004	NM_001369789.1(PWWP3A):c.266G>A (p.Arg89Gln)	PWWP3A (R89Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150002	NM_001369789.1(PWWP3A):c.2125C>G (p.Arg709Gly)	PWWP3A (R586G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150001	NM_001369789.1(PWWP3A):c.2113C>T (p.Arg705Trp)	PWWP3A (R582W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150000	NM_001369789.1(PWWP3A):c.2063C>T (p.Ser688Leu)	PWWP3A (S620L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149999	NM_001369789.1(PWWP3A):c.2033C>T (p.Thr678Met)	PWWP3A (T610M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149998	NM_001369789.1(PWWP3A):c.197C>T (p.Ala66Val)	PWWP3A (A66V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149997	NM_001369789.1(PWWP3A):c.1945G>A (p.Gly649Ser)	PWWP3A (G649S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149996	NM_001369789.1(PWWP3A):c.1940C>T (p.Thr647Ile)	PWWP3A (T659I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149995	NM_001369789.1(PWWP3A):c.1913A>T (p.Glu638Val)	PWWP3A (E570V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149994	NM_001369789.1(PWWP3A):c.1834G>A (p.Val612Met)	PWWP3A (V544M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149993	NM_001369789.1(PWWP3A):c.1789A>G (p.Lys597Glu)	PWWP3A (K529E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149992	NM_001369789.1(PWWP3A):c.167T>C (p.Val56Ala)	PWWP3A (V56A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3149991	NM_001369789.1(PWWP3A):c.1659G>C (p.Arg553Ser)	PWWP3A (R430S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149990	NM_001369789.1(PWWP3A):c.1643G>C (p.Cys548Ser)	PWWP3A (C548S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3149989	NM_001369789.1(PWWP3A):c.1637T>C (p.Val546Ala)	PWWP3A (V478A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3149988	NM_001369789.1(PWWP3A):c.1633G>A (p.Val545Met)	PWWP3A (V422M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149987	NM_001369789.1(PWWP3A):c.1562G>A (p.Arg521Gln)	PWWP3A (R398Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149986	NM_001369789.1(PWWP3A):c.1555C>T (p.Pro519Ser)	PWWP3A (P396S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149985	NM_001369789.1(PWWP3A):c.1547T>C (p.Ile516Thr)	PWWP3A (I393T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149984	NM_001369789.1(PWWP3A):c.1537G>A (p.Ala513Thr)	PWWP3A (A390T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149983	NM_001369789.1(PWWP3A):c.1516G>C (p.Gly506Arg)	PWWP3A (G438R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149982	NM_001369789.1(PWWP3A):c.1480G>A (p.Asp494Asn)	PWWP3A (D426N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149981	NM_001369789.1(PWWP3A):c.1456G>T (p.Gly486Cys)	PWWP3A (G486C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149980	NM_001369789.1(PWWP3A):c.127C>G (p.Leu43Val)	PWWP3A (L43V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149979	NM_001369789.1(PWWP3A):c.1304G>A (p.Arg435Lys)	PWWP3A (R435K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149978	NM_001369789.1(PWWP3A):c.1285G>A (p.Val429Ile)	PWWP3A (V306I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149977	NM_001369789.1(PWWP3A):c.1219C>G (p.Arg407Gly)	PWWP3A (R407G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149975	NM_001369789.1(PWWP3A):c.1153C>A (p.Arg385Ser)	LOC121627844, PWWP3A (R317S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149974	NM_001369789.1(PWWP3A):c.1126G>A (p.Glu376Lys)	LOC121627844, PWWP3A (E308K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149973	NM_001369789.1(PWWP3A):c.1088C>T (p.Pro363Leu)	PWWP3A (P363L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149972	NM_001369789.1(PWWP3A):c.1046C>T (p.Pro349Leu)	PWWP3A (P226L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149971	NM_001369789.1(PWWP3A):c.1040C>T (p.Pro347Leu)	PWWP3A (P224L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149970	NM_001369789.1(PWWP3A):c.1034T>A (p.Leu345Gln)	PWWP3A (L345Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149969	NM_001369789.1(PWWP3A):c.1019G>A (p.Arg340His)	PWWP3A (R217H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149968	NM_001369789.1(PWWP3A):c.1018C>T (p.Arg340Cys)	PWWP3A (R217C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149967	NM_001369789.1(PWWP3A):c.998C>A (p.Pro333His)	PWWP3A (P210H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062388	GRCh37/hg19 19p13.3(chr19:1365449-1390191)x1	NDUFS7, PWWP3A	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2622755	NM_001369789.1(PWWP3A):c.247G>C (p.Glu83Gln)	PWWP3A (E83Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614384	NM_001369789.1(PWWP3A):c.2009C>T (p.Ala670Val)	PWWP3A (A547V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604674	NM_001369789.1(PWWP3A):c.1154G>A (p.Arg385His)	LOC121627844, PWWP3A (R317H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597905	NM_001369789.1(PWWP3A):c.758C>T (p.Pro253Leu)	PWWP3A (P130L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2593069	NM_001369789.1(PWWP3A):c.145A>G (p.Ile49Val)	PWWP3A (I49V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592366	NM_001369789.1(PWWP3A):c.236C>T (p.Ala79Val)	PWWP3A (A11V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588918	NM_001369789.1(PWWP3A):c.416C>T (p.Pro139Leu)	PWWP3A (P16L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2555603	NM_001369789.1(PWWP3A):c.1777C>G (p.Leu593Val)	PWWP3A (L470V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550456	NM_001369789.1(PWWP3A):c.1907A>G (p.Tyr636Cys)	PWWP3A (Y648C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2542791	NM_001369789.1(PWWP3A):c.1769G>A (p.Arg590Gln)	PWWP3A (R602Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542344	NM_001369789.1(PWWP3A):c.1513G>A (p.Ala505Thr)	PWWP3A (A382T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523570	NM_001369789.1(PWWP3A):c.1861G>A (p.Asp621Asn)	PWWP3A (D633N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517271	NM_001369789.1(PWWP3A):c.1688G>A (p.Arg563His)	PWWP3A (R495H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510416	NM_001369789.1(PWWP3A):c.1618A>G (p.Ser540Gly)	PWWP3A (S417G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485498	NM_001369789.1(PWWP3A):c.2114G>A (p.Arg705Gln)	PWWP3A (R739Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480995	NM_001369789.1(PWWP3A):c.232C>A (p.Pro78Thr)	PWWP3A (P10T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463843	NM_001369789.1(PWWP3A):c.476G>A (p.Ser159Asn)	PWWP3A (S36N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	ADAMTSL5, APC2 +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1808976	GRCh37/hg19 19p13.3(chr19:1356893-1676446)x1	ADAMTSL5, APC2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1807799	GRCh37/hg19 19p13.3(chr19:1205244-1479188)x1	APC2, ATP5F1D +12 more	Copy number loss	not provided	GPathogenic
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	ABCA7, ARHGAP45 +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 789850	NM_001369789.1(PWWP3A):c.823C>T (p.Leu275=)	PWWP3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 730725	NM_001369789.1(PWWP3A):c.591T>A (p.Gly197=)	PWWP3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 718373	NM_032853.5(PWWP3A):c.1423-6T>C	PWWP3A	Single nucleotide variant	not provided	GBenign
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 685369	GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3	ADAMTSL5, APC2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic

<< First< Prev

Page of 2