ClinVar for Gene (Select 84501) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243238	NC_000016.9:g.(?_89874682)_(90002212_?)del	FANCA, MC1R +3 more	Deletion	Fanconi anemia	GPathogenic
Select item 3243229	NC_000016.9:g.(?_89865554)_(90109753_?)del	CENPBD1, DBNDD1 +8 more	Deletion	Fanconi anemia	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3169224	NM_032451.2(SPIRE2):c.956G>A (p.Arg319His)	SPIRE2 (R319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169223	NM_032451.2(SPIRE2):c.955C>T (p.Arg319Cys)	SPIRE2 (R319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169222	NM_032451.2(SPIRE2):c.914G>A (p.Arg305Gln)	SPIRE2 (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169221	NM_032451.2(SPIRE2):c.892G>A (p.Val298Met)	SPIRE2 (V298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169220	NM_032451.2(SPIRE2):c.880C>T (p.Arg294Cys)	SPIRE2 (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169219	NM_032451.2(SPIRE2):c.875A>G (p.Lys292Arg)	SPIRE2 (K292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169218	NM_032451.2(SPIRE2):c.752G>C (p.Arg251Pro)	SPIRE2 (R251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169217	NM_032451.2(SPIRE2):c.670G>A (p.Glu224Lys)	SPIRE2 (E224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169216	NM_032451.2(SPIRE2):c.611G>A (p.Arg204Gln)	SPIRE2 (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169215	NM_032451.2(SPIRE2):c.413A>G (p.Glu138Gly)	SPIRE2 (E138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169214	NM_032451.2(SPIRE2):c.368C>T (p.Pro123Leu)	SPIRE2 (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169213	NM_032451.2(SPIRE2):c.367C>T (p.Pro123Ser)	SPIRE2 (P123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169212	NM_032451.2(SPIRE2):c.20G>C (p.Cys7Ser)	LOC130059841, SPIRE2 (C7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169211	NM_032451.2(SPIRE2):c.1990G>A (p.Val664Ile)	SPIRE2 (V664I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169210	NM_032451.2(SPIRE2):c.1951G>A (p.Val651Met)	SPIRE2 (V651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169208	NM_032451.2(SPIRE2):c.1816C>G (p.Pro606Ala)	SPIRE2 (P606A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169207	NM_032451.2(SPIRE2):c.1748C>T (p.Ser583Leu)	SPIRE2 (S583L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169206	NM_032451.2(SPIRE2):c.1442G>A (p.Arg481Lys)	SPIRE2 (R481K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169205	NM_032451.2(SPIRE2):c.1315C>T (p.Arg439Cys)	SPIRE2 (R439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169204	NM_032451.2(SPIRE2):c.1219G>C (p.Val407Leu)	SPIRE2 (V407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169203	NM_032451.2(SPIRE2):c.1052A>T (p.Lys351Met)	SPIRE2 (K351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169202	NM_032451.2(SPIRE2):c.1019G>T (p.Arg340Met)	SPIRE2 (R340M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069206	NC_000016.9:g.(?_89865477)_(89895213_?)del	SPIRE2, FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3063462	GRCh37/hg19 16q24.3(chr16:89869380-89896259)x1	FANCA, SPIRE2	Copy number loss	not specified	GUncertain significance
Select item 3063459	GRCh37/hg19 16q24.3(chr16:89763758-89896259)x1	FANCA, SPATA2L +3 more	Copy number loss	not specified	GUncertain significance
Select item 2647142	NM_032451.2(SPIRE2):c.1473C>T (p.Pro491=)	SPIRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612917	NM_032451.2(SPIRE2):c.1366G>C (p.Gly456Arg)	SPIRE2 (G456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612434	NM_032451.2(SPIRE2):c.1479T>A (p.Ser493Arg)	SPIRE2 (S493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608617	NM_032451.2(SPIRE2):c.1259T>G (p.Met420Arg)	SPIRE2 (M420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608373	NM_032451.2(SPIRE2):c.1456G>C (p.Asp486His)	SPIRE2 (D486H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600475	NM_032451.2(SPIRE2):c.485C>A (p.Pro162His)	SPIRE2 (P162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597277	NM_032451.2(SPIRE2):c.2084G>A (p.Arg695Gln)	SPIRE2 (R695Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596014	NM_032451.2(SPIRE2):c.1073C>T (p.Pro358Leu)	SPIRE2 (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590136	NM_032451.2(SPIRE2):c.1400C>T (p.Thr467Met)	SPIRE2 (T467M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558032	NM_032451.2(SPIRE2):c.793C>G (p.Gln265Glu)	SPIRE2 (Q265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556470	NM_032451.2(SPIRE2):c.769G>A (p.Val257Met)	SPIRE2 (V257M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543295	NM_032451.2(SPIRE2):c.113A>G (p.Glu38Gly)	SPIRE2 (E38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542635	NM_032451.2(SPIRE2):c.41C>A (p.Ala14Glu)	LOC130059841, SPIRE2 (A14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530987	NM_032451.2(SPIRE2):c.446A>G (p.Tyr149Cys)	SPIRE2 (Y149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525892	NM_032451.2(SPIRE2):c.351G>C (p.Glu117Asp)	SPIRE2 (E117D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520990	NM_032451.2(SPIRE2):c.625A>G (p.Arg209Gly)	SPIRE2 (R209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515634	NM_032451.2(SPIRE2):c.92A>T (p.Tyr31Phe)	SPIRE2 (Y31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510602	NM_032451.2(SPIRE2):c.2078C>T (p.Thr693Met)	SPIRE2 (T693M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459564	NM_032451.2(SPIRE2):c.1454G>A (p.Arg485Gln)	SPIRE2 (R485Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456546	NM_032451.2(SPIRE2):c.1010C>T (p.Pro337Leu)	SPIRE2 (P337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	SPIRE2, TCF25 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422429	NC_000016.9:g.(?_89825110)_(89923062_?)del	FANCA, SPIRE2	Deletion	Fanconi anemia	GPathogenic
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	DPEP1, DEF8 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2412476	NM_032451.2(SPIRE2):c.1078C>T (p.Arg360Trp)	SPIRE2 (R360W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407070	NM_032451.2(SPIRE2):c.1335C>A (p.Asp445Glu)	SPIRE2 (D445E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405332	NM_032451.2(SPIRE2):c.1875G>T (p.Arg625Ser)	SPIRE2 (R625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395779	NM_032451.2(SPIRE2):c.1783G>A (p.Val595Ile)	SPIRE2 (V595I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390559	NM_032451.2(SPIRE2):c.127G>A (p.Val43Met)	SPIRE2 (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390494	NM_032451.2(SPIRE2):c.830C>T (p.Thr277Met)	SPIRE2 (T277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387574	NM_032451.2(SPIRE2):c.740T>G (p.Val247Gly)	SPIRE2 (V247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384019	NM_032451.2(SPIRE2):c.631C>T (p.Arg211Trp)	SPIRE2 (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367204	NM_032451.2(SPIRE2):c.843G>C (p.Met281Ile)	SPIRE2 (M281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366447	NM_032451.2(SPIRE2):c.913C>T (p.Arg305Trp)	SPIRE2 (R305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364058	NM_032451.2(SPIRE2):c.310G>A (p.Ala104Thr)	SPIRE2 (A104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361115	NM_032451.2(SPIRE2):c.1465A>G (p.Thr489Ala)	SPIRE2 (T489A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361114	NM_032451.2(SPIRE2):c.1418G>A (p.Arg473Gln)	SPIRE2 (R473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360020	NM_032451.2(SPIRE2):c.1474G>A (p.Ala492Thr)	SPIRE2 (A492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351834	NM_032451.2(SPIRE2):c.2129C>T (p.Thr710Ile)	SPIRE2 (T710I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351726	NM_032451.2(SPIRE2):c.1309C>T (p.Arg437Trp)	SPIRE2 (R437W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350552	NM_032451.2(SPIRE2):c.262G>A (p.Val88Met)	SPIRE2 (V88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350120	NM_032451.2(SPIRE2):c.962G>A (p.Arg321Gln)	SPIRE2 (R321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345075	NM_032451.2(SPIRE2):c.2042G>A (p.Arg681His)	SPIRE2 (R681H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342598	NM_032451.2(SPIRE2):c.436G>A (p.Asp146Asn)	SPIRE2 (D146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328132	NM_032451.2(SPIRE2):c.716A>G (p.His239Arg)	SPIRE2 (H239R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324330	NM_032451.2(SPIRE2):c.751C>G (p.Arg251Gly)	SPIRE2 (R251G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315144	NM_032451.2(SPIRE2):c.248C>T (p.Pro83Leu)	SPIRE2 (P83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310514	NM_032451.2(SPIRE2):c.448G>C (p.Gly150Arg)	SPIRE2 (G150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300527	NM_032451.2(SPIRE2):c.187G>T (p.Gly63Trp)	SPIRE2 (G63W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280761	NM_032451.2(SPIRE2):c.1067T>C (p.Leu356Pro)	SPIRE2 (L356P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260319	NM_032451.2(SPIRE2):c.1322T>C (p.Phe441Ser)	SPIRE2 (F441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258118	NM_032451.2(SPIRE2):c.2084G>T (p.Arg695Leu)	SPIRE2 (R695L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250846	NM_032451.2(SPIRE2):c.1286C>T (p.Pro429Leu)	SPIRE2 (P429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249561	NM_032451.2(SPIRE2):c.1217G>A (p.Arg406His)	SPIRE2 (R406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241888	NM_032451.2(SPIRE2):c.68C>G (p.Ser23Cys)	LOC130059841, SPIRE2 (S23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232473	NM_032451.2(SPIRE2):c.460G>A (p.Glu154Lys)	SPIRE2 (E154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220180	NM_032451.2(SPIRE2):c.402C>A (p.Asn134Lys)	SPIRE2 (N134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218015	NM_032451.2(SPIRE2):c.472G>A (p.Ala158Thr)	SPIRE2 (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214365	NM_032451.2(SPIRE2):c.1894G>A (p.Ala632Thr)	SPIRE2 (A632T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206744	NM_032451.2(SPIRE2):c.1636C>T (p.Arg546Cys)	SPIRE2 (R546C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807941	GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1703657	GRCh37/hg19 16q24.3(chr16:89845820-89913583)	FANCA, SPIRE2	Copy number gain	46,XY sex reversal 7	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526556	GRCh37/hg19 16q24.3(chr16:89763758-89961958)	FANCA, SPATA2L +4 more	Copy number loss	not specified	GUncertain significance
Select item 1526545	GRCh37/hg19 16q24.3(chr16:88985997-89962916)	ACSF3, ANKRD11 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1340715	GRCh37/hg19 16q24.3(chr16:89748800-89903843)x1	CDK10, FANCA +4 more	Copy number loss	not provided	GLikely benign
Select item 1340329	GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	CDK10, ANKRD11 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 1224512	NM_032451.2(SPIRE2):c.245-5527C>G	FANCA, SPIRE2	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 980110	GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3	DEF8, FANCA +21 more	Copy number gain	not provided	GUncertain significance

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