ClinVar for Gene (Select 115426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186279	NM_152896.3(UHRF2):c.844C>T (p.Arg282Cys)	UHRF2 (R282C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186278	NM_152896.3(UHRF2):c.551A>G (p.Glu184Gly)	UHRF2 (E184G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186277	NM_152896.3(UHRF2):c.50A>G (p.Glu17Gly)	UHRF2 (E17G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186276	NM_152896.3(UHRF2):c.509C>A (p.Ser170Tyr)	UHRF2 (S170Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186275	NM_152896.3(UHRF2):c.359T>C (p.Ile120Thr)	UHRF2 (I120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186274	NM_152896.3(UHRF2):c.338C>T (p.Thr113Ile)	UHRF2 (T113I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186272	NM_152896.3(UHRF2):c.278C>G (p.Ser93Cys)	UHRF2 (S93C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186271	NM_152896.3(UHRF2):c.2048C>T (p.Ser683Leu)	UHRF2 (S683L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186270	NM_152896.3(UHRF2):c.1268G>A (p.Arg423Gln)	UHRF2 (R423Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2659060	NM_152896.3(UHRF2):c.255A>G (p.Thr85=)	UHRF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622441	NM_152896.3(UHRF2):c.619G>A (p.Val207Ile)	UHRF2 (V207I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604761	NM_152896.3(UHRF2):c.2179T>A (p.Leu727Met)	UHRF2 (L727M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602583	NM_152896.3(UHRF2):c.1106A>T (p.Tyr369Phe)	UHRF2 (Y369F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558557	NM_152896.3(UHRF2):c.1976G>C (p.Ser659Thr)	UHRF2 (S659T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528944	NM_152896.3(UHRF2):c.786C>G (p.Phe262Leu)	UHRF2 (F262L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527380	NM_152896.3(UHRF2):c.2246T>G (p.Phe749Cys)	UHRF2 (F749C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477024	NM_152896.3(UHRF2):c.112G>T (p.Val38Leu)	LOC130001535, UHRF2 (V38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406110	NM_152896.3(UHRF2):c.977G>A (p.Arg326Gln)	UHRF2 (R326Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397199	NM_152896.3(UHRF2):c.377T>C (p.Ile126Thr)	UHRF2 (I126T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321466	NM_152896.3(UHRF2):c.2357T>A (p.Ile786Asn)	UHRF2 (I786N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287765	NM_152896.3(UHRF2):c.314T>C (p.Val105Ala)	UHRF2 (V105A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284248	NM_152896.3(UHRF2):c.2140C>G (p.Leu714Val)	UHRF2 (L714V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273032	NM_152896.3(UHRF2):c.460G>T (p.Ala154Ser)	UHRF2 (A154S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240954	NM_152896.3(UHRF2):c.1102G>T (p.Ala368Ser)	UHRF2 (A368S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222869	NM_152896.3(UHRF2):c.2029G>T (p.Val677Leu)	UHRF2 (V677L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217036	NM_152896.3(UHRF2):c.346C>T (p.Arg116Cys)	UHRF2 (R116C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213989	NM_152896.3(UHRF2):c.559A>C (p.Asn187His)	UHRF2 (N187H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	DMRT3, DOCK8 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706515	GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	KIAA2026, RLN2 +37 more	Copy number loss	See cases	GPathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703682	GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)	AK3, CD274 +36 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703681	GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)	ADAMTSL1, BNC2 +38 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703680	GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	AK3, CD274 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703678	GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	AK3, CD274 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1684649	Single allele	LOC130001549, LOC130001550 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 1527505	GRCh37/hg19 9p24.1(chr9:6284574-6577634)	GLDC, TPD52L3 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	RIGI, RLN1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, CD274 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, CD274 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527482	GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	AK3, CD274 +41 more	Copy number loss	not specified	GPathogenic
Select item 1527480	GRCh37/hg19 9p24.3-23(chr9:203861-11414732)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527479	GRCh37/hg19 9p24.3-23(chr9:203861-9631665)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527478	GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527477	GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331)	AK3, CD274 +35 more	Copy number loss	not specified	GPathogenic
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	ADAMTSL1, AK3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 1047875	GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677)	AK3, CD274 +25 more	Copy number gain	Global developmental delay	GPathogenic
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	AK3, BNC2 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 815221	GRCh37/hg19 9p24.1(chr9:6504664-6655730)x1	UHRF2, GLDC	Copy number loss	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815189	GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1	DOCK8, SPATA6L +40 more	Copy number loss	not provided	GPathogenic
Select item 815188	GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1	RLN1, RLN2 +41 more	Copy number loss	not provided	GPathogenic
Select item 815187	GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1	INSL6, PLGRKT +37 more	Copy number loss	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	TPD52L3, IL33 +51 more	Copy number loss	not provided	GPathogenic
Select item 687832	GRCh37/hg19 9p24.1(chr9:6489141-6654924)x1	GLDC, UHRF2	Copy number loss	not provided	GUncertain significance
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	ACER2, ACO1 +193 more	Copy number gain	not provided	GPathogenic
Select item 687390	GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1	AK3, CD274 +37 more	Copy number loss	not provided	GPathogenic
Select item 687364	GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1	AK3, CD274 +37 more	Copy number loss	not provided	GPathogenic
Select item 685502	GRCh37/hg19 9p24.1(chr9:6301577-6761300)x3	GLDC, KDM4C +2 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	IFNA1, IFNA10 +204 more	Copy number gain	not provided	GPathogenic
Select item 684956	GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3	MLANA, ZDHHC21 +59 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ANKRD18B, APTX +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	ACER2, ADAMTSL1 +89 more	Copy number gain	not provided	GPathogenic
Select item 563681	GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	TTC39B, SNAPC3 +61 more	Copy number gain	not provided	GPathogenic
Select item 563679	GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1	RLN2, NFIB +44 more	Copy number loss	not provided	GPathogenic
Select item 563678	GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1	RANBP6, DMRT3 +37 more	Copy number loss	not provided	GPathogenic
Select item 563677	GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1	DOCK8-AS1, RCL1 +37 more	Copy number loss	not provided	GPathogenic
Select item 563675	GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1	DMRT3, DOCK8-AS1 +37 more	Copy number loss	not provided	GPathogenic
Select item 563673	GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1	JAK2, RFX3 +35 more	Copy number loss	not provided	GPathogenic
Select item 563638	GRCh37/hg19 9p24.1(chr9:6103626-6633240)x1	GLDC, UHRF2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 443400	GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3	AK3, BRD10 +37 more	Copy number gain	See cases	GLikely pathogenic
Select item 443225	GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1	AK3, BRD10 +32 more	Copy number loss	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442671	GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1	AK3, BRD10 +40 more	Copy number loss	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	TRMT10B, TRPM3 +274 more	Copy number gain	See cases	GPathogenic
Select item 442304	GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1	AK3, BNC2 +51 more	Copy number loss	See cases	GPathogenic
Select item 442183	GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3	ACER2, ADAMTSL1 +69 more	Copy number gain	See cases	GPathogenic
Select item 441876	GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1	AK3, BNC2 +49 more	Copy number loss	See cases	GPathogenic

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