PHF21A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +79 more	Copy number loss	See cases	GPathogenic
Select item 3005664	NM_001352027.3(PHF21A):c.2032G>A (p.Glu678Lys)	PHF21A (E630K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2768930	NM_001352027.3(PHF21A):c.2027A>C (p.Gln676Pro)	PHF21A (Q675P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066504	NM_001352027.3(PHF21A):c.2016G>A (p.Ala672=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1595935	NM_001352027.3(PHF21A):c.2015C>T (p.Ala672Val)	PHF21A (A624V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 521629	NM_001352027.3(PHF21A):c.1995del (p.Ser666fs)	PHF21A (S618fs +3 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 3212139	NM_001352027.3(PHF21A):c.1993C>T (p.Pro665Ser)	PHF21A (P617S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2058610	NM_001352027.3(PHF21A):c.1983G>A (p.Pro661=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909066	NM_001352027.3(PHF21A):c.1981C>T (p.Pro661Ser)	PHF21A (P614S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 719351	NM_001352027.3(PHF21A):c.1980G>A (p.Thr660=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976797	NM_001352027.3(PHF21A):c.1979C>T (p.Thr660Met)	PHF21A (T659M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1373131	NM_001352027.3(PHF21A):c.1969G>A (p.Ala657Thr)	PHF21A (A610T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2082688	NM_001352027.3(PHF21A):c.1968C>T (p.Ala656=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975879	NM_001352027.3(PHF21A):c.1960G>A (p.Ala654Thr)	PHF21A (A606T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1917917	NM_001352027.3(PHF21A):c.1959del (p.Ala654fs)	PHF21A (A607fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2626884	NM_001352027.3(PHF21A):c.1958del (p.Pro653fs)	PHF21A (P605fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1923385	NM_001352027.3(PHF21A):c.1957C>A (p.Pro653Thr)	PHF21A (P606T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2968790	NM_001352027.3(PHF21A):c.1954C>G (p.Pro652Ala)	PHF21A (P604A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257485	NM_001352027.3(PHF21A):c.1953C>T (p.Thr651=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188637	NM_001352027.3(PHF21A):c.1953C>G (p.Thr651=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999247	NM_001352027.3(PHF21A):c.1952C>G (p.Thr651Ser)	PHF21A (T603S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1399073	NM_001352027.3(PHF21A):c.1952C>T (p.Thr651Ile)	PHF21A (T604I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2068654	NM_001352027.3(PHF21A):c.1944G>A (p.Pro648=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889035	NM_001352027.3(PHF21A):c.1943C>T (p.Pro648Leu)	PHF21A (P600L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977919	NM_001352027.3(PHF21A):c.1941C>T (p.Gly647=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1618357	NM_001352027.3(PHF21A):c.1937A>G (p.Asn646Ser)	PHF21A (N598S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2434682	NM_001352027.3(PHF21A):c.1933T>C (p.Ser645Pro)	PHF21A (S597P +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	GUncertain significance
Select item 2502563	NM_001352027.3(PHF21A):c.1924G>A (p.Gly642Arg)	PHF21A (G594R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689691	NM_001352027.3(PHF21A):c.1921G>T (p.Val641Leu)	PHF21A (V593L +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	GUncertain significance
Select item 2898864	NM_001352027.3(PHF21A):c.1920T>C (p.Thr640=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2999043	NM_001352027.3(PHF21A):c.1904T>C (p.Val635Ala)	PHF21A (V588A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1690911	NM_001352027.3(PHF21A):c.1889A>G (p.Asp630Gly)	PHF21A (D582G +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GUncertain significance
Select item 2188834	NM_001352027.3(PHF21A):c.1888G>A (p.Asp630Asn)	PHF21A (D582N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1538356	NM_001352027.3(PHF21A):c.1885A>G (p.Ile629Val)	PHF21A (I582V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1341719	NM_001352027.3(PHF21A):c.1882G>A (p.Gly628Ser)	PHF21A (G580S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2979156	NM_001352027.3(PHF21A):c.1872C>T (p.Arg624=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1385620	NM_001352027.3(PHF21A):c.1871G>A (p.Arg624His)	PHF21A (R624H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704110	NM_001352027.3(PHF21A):c.1858A>C (p.Lys620Gln)	PHF21A (K572Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582071	NM_001352027.3(PHF21A):c.1852A>G (p.Lys618Glu)	PHF21A (K570E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020276	NM_001352027.3(PHF21A):c.1851G>T (p.Glu617Asp)	PHF21A (E569D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334755	NM_001352027.3(PHF21A):c.1846C>G (p.Leu616Val)	PHF21A (L568V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2182152	NM_001352027.3(PHF21A):c.1838A>T (p.His613Leu)	PHF21A (H613L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2259481	NM_001352027.3(PHF21A):c.1823G>A (p.Arg608Gln)	PHF21A (R561Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 780143	NM_001352027.3(PHF21A):c.1813A>G (p.Ile605Val)	PHF21A (I605V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1930368	NM_001352027.3(PHF21A):c.1796T>C (p.Met599Thr)	PHF21A (M552T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691198	NM_001352027.3(PHF21A):c.1795A>G (p.Met599Val)	PHF21A (M551V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2871954	NM_001352027.3(PHF21A):c.1789-17C>T	PHF21A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134532	NM_001352027.3(PHF21A):c.1788+12T>C	PHF21A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3251004	NM_001352027.3(PHF21A):c.1788+7A>G	PHF21A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2781430	NM_001352027.3(PHF21A):c.1742G>A (p.Arg581Gln)	PHF21A (R533Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 620028	NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)	PHF21A (R580* +3 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 2434684	NM_001352027.3(PHF21A):c.1727A>G (p.Asp576Gly)	PHF21A (D528G +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	GUncertain significance
Select item 1992308	NM_001352027.3(PHF21A):c.1724C>A (p.Ser575Ter)	PHF21A (S574* +3 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	GPathogenic
Select item 2902994	NM_001352027.3(PHF21A):c.1716A>G (p.Lys572=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1302159	NM_001352027.3(PHF21A):c.1704_1705del (p.Lys569fs)	PHF21A (K521fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2091797	NM_001352027.3(PHF21A):c.1689AGA[2] (p.Glu566del)	PHF21A (E519del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3042619	NM_001352027.3(PHF21A):c.1685-4_1685-3dup	PHF21A	Duplication (intron variant)	PHF21A-related disorder	GLikely benign
Select item 3041678	NM_001352027.3(PHF21A):c.1685-7_1685-3del	PHF21A	Deletion (intron variant)	PHF21A-related disorder	GBenign
Select item 2703475	NM_001352027.3(PHF21A):c.1685-16_1685-3del	PHF21A	Deletion (intron variant)	not provided	GLikely benign
Select item 1979745	NM_001352027.3(PHF21A):c.1685-15_1685-3del	PHF21A	Deletion (intron variant)	not provided	GLikely benign
Select item 787908	NM_001352027.3(PHF21A):c.1685-8_1685-3del	PHF21A	Deletion (intron variant)	not provided	GBenign
Select item 403296	NM_001352027.3(PHF21A):c.1685-3del	PHF21A	Deletion (intron variant)	not specified	GBenign
Select item 403295	NM_001352027.3(PHF21A):c.1685-4_1685-3del	PHF21A	Deletion (intron variant)	not specified	GBenign
Select item 1691053	NM_001352027.3(PHF21A):c.1685-10T>C	PHF21A	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2840532	NM_001352027.3(PHF21A):c.1684+19C>T	PHF21A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721963	NM_001352027.3(PHF21A):c.1684+7A>G	PHF21A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771859	NM_001352027.3(PHF21A):c.1684+2T>A	PHF21A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2974081	NM_001352027.3(PHF21A):c.1667A>G (p.Tyr556Cys)	PHF21A (Y508C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2862314	NM_001352027.3(PHF21A):c.1613T>C (p.Leu538Pro)	PHF21A (L491P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327007	NM_001352027.3(PHF21A):c.1608+39G>A	PHF21A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2779104	NM_001352027.3(PHF21A):c.1608+5T>C	PHF21A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365133	NM_001352027.3(PHF21A):c.1608+3A>G	PHF21A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1210685	NM_001352027.3(PHF21A):c.1556dup (p.Leu520fs)	PHF21A (L472fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2662527	NM_001352027.3(PHF21A):c.1556C>T (p.Pro519Leu)	PHF21A (P471L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641736	NM_001352027.3(PHF21A):c.1554C>T (p.Pro518=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2170957	NM_001352027.3(PHF21A):c.1554C>G (p.Pro518=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2376810	NM_001352027.3(PHF21A):c.1551C>A (p.Asp517Glu)	PHF21A (D469E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1098661	NM_001352027.3(PHF21A):c.1513G>A (p.Asp505Asn)	PHF21A (D457N +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	GUncertain significance
Select item 2187992	NM_001352027.3(PHF21A):c.1512C>T (p.Cys504=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793135	NM_001352027.3(PHF21A):c.1500G>A (p.Gln500=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2429968	NM_001352027.3(PHF21A):c.1493G>A (p.Ser498Asn)	PHF21A (S450N +3 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 3354162	NM_001352027.3(PHF21A):c.1480G>A (p.Val494Ile)	PHF21A (V446I +3 more)	Single nucleotide variant (missense variant +1 more)	PHF21A-related disorder	GLikely benign
Select item 3257687	NM_001352027.3(PHF21A):c.1479C>T (p.Ser493=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881693	NM_001352027.3(PHF21A):c.1464T>C (p.His488=)	PHF21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3364235	NM_001352027.3(PHF21A):c.1463A>G (p.His488Arg)	PHF21A (H440R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504497	NM_001352027.3(PHF21A):c.1459A>G (p.Ile487Val)	PHF21A (I439V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2143958	NM_001352027.3(PHF21A):c.1453-6T>G	PHF21A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020411	NM_001352027.3(PHF21A):c.1453-16C>T	PHF21A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960711	NM_001352027.3(PHF21A):c.1452C>T (p.Asp484=)	PHF21A	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2009723	NM_001352027.3(PHF21A):c.1439C>T (p.Pro480Leu)	PHF21A (P480L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2641737	NM_001352027.3(PHF21A):c.1428C>T (p.Ser476=)	PHF21A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2990278	NM_001352027.3(PHF21A):c.1414G>C (p.Val472Leu)	PHF21A (V471L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1447403	NM_001352027.3(PHF21A):c.1411C>T (p.Pro471Ser)	PHF21A (P471S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3306141	NM_001352027.3(PHF21A):c.1370C>T (p.Pro457Leu)	PHF21A (P456L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2189329	NM_001352027.3(PHF21A):c.1350A>G (p.Gln450=)	PHF21A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

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