LONRF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	AGPAT5, ANGPT2 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 59806	GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3	FAM66A, FAM86B2 +18 more	Copy number gain	See cases	GBenign
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 149287	GRCh38/hg38 8p23.1-22(chr8:12633363-13767233)x3	C8orf48, DLC1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 155085	GRCh38/hg38 8p23.1-22(chr8:12698495-13381340)x1	DLC1, LINC00681 +18 more	Copy number loss	See cases	GLikely benign
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2337610	NM_152271.5(LONRF1):c.2282A>G (p.Gln761Arg)	LONRF1 (Q761R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483891	NM_152271.5(LONRF1):c.2237C>T (p.Ser746Leu)	LONRF1 (S746L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 2291122	NM_152271.5(LONRF1):c.2036A>G (p.Asn679Ser)	LONRF1 (N668S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272734	NM_152271.5(LONRF1):c.2034G>C (p.Lys678Asn)	LONRF1 (K667N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119529	NM_152271.5(LONRF1):c.2033A>G (p.Lys678Arg)	LONRF1 (K678R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 148067	GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)x3	C8orf48, DLC1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 3119528	NM_152271.5(LONRF1):c.1984G>A (p.Asp662Asn)	LONRF1 (D662N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329416	NM_152271.5(LONRF1):c.1952A>G (p.Lys651Arg)	LONRF1 (K640R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286941	NM_152271.5(LONRF1):c.1915G>T (p.Val639Phe)	LONRF1 (V639F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 2475759	NM_152271.5(LONRF1):c.1855G>A (p.Asp619Asn)	LONRF1 (D619N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119527	NM_152271.5(LONRF1):c.1797A>G (p.Ile599Met)	LONRF1 (I588M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317780	NM_152271.5(LONRF1):c.1666G>A (p.Glu556Lys)	LONRF1 (E545K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262176	NM_152271.5(LONRF1):c.1663G>A (p.Asp555Asn)	LONRF1 (D555N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214556	NM_152271.5(LONRF1):c.1642T>A (p.Ser548Thr)	LONRF1 (S537T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151551	GRCh38/hg38 8p23.1-22(chr8:12732530-13130114)x3	DLC1, LINC00681 +11 more	Copy number gain	See cases	GLikely benign
Select item 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 2288318	NM_152271.5(LONRF1):c.1385T>C (p.Leu462Ser)	LONRF1 (L462S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230309	NM_152271.5(LONRF1):c.1364A>T (p.Asn455Ile)	LONRF1 (N455I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369869	NM_152271.5(LONRF1):c.1237T>C (p.Ser413Pro)	LONRF1 (S413P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119526	NM_152271.5(LONRF1):c.1144C>T (p.Pro382Ser)	LONRF1 (P382S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119525	NM_152271.5(LONRF1):c.1131G>C (p.Glu377Asp)	LONRF1 (E377D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605693	NM_152271.5(LONRF1):c.1095T>A (p.Asn365Lys)	LONRF1 (N365K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552525	NM_152271.5(LONRF1):c.1042A>G (p.Lys348Glu)	LONRF1 (K348E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119524	NM_152271.5(LONRF1):c.1003G>A (p.Gly335Ser)	LONRF1 (G335S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119536	NM_152271.5(LONRF1):c.958C>G (p.Gln320Glu)	LONRF1 (Q320E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2523101	NM_152271.5(LONRF1):c.885A>C (p.Leu295Phe)	LONRF1 (L295F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261543	NM_152271.5(LONRF1):c.817T>C (p.Phe273Leu)	LONRF1 (F273L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545716	NM_152271.5(LONRF1):c.780G>T (p.Glu260Asp)	LONRF1 (E260D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119535	NM_152271.5(LONRF1):c.725C>A (p.Pro242His)	LONRF1 (P242H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 2233222	NM_152271.5(LONRF1):c.697G>A (p.Ala233Thr)	LONRF1 (A233T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623850	NM_152271.5(LONRF1):c.667C>G (p.His223Asp)	LONRF1 (H223D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223295	NM_152271.5(LONRF1):c.650G>C (p.Arg217Thr)	LONRF1 (R217T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119534	NM_152271.5(LONRF1):c.553G>A (p.Ala185Thr)	LONRF1 (A185T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522519	NM_152271.5(LONRF1):c.542C>T (p.Pro181Leu)	LONRF1 (P181L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210253	NM_152271.5(LONRF1):c.512A>T (p.Asp171Val)	LONRF1 (D171V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119532	NM_152271.5(LONRF1):c.508A>G (p.Thr170Ala)	LONRF1 (T170A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119531	NM_152271.5(LONRF1):c.396G>T (p.Glu132Asp)	LONRF1 (E132D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493863	NM_152271.5(LONRF1):c.359T>C (p.Leu120Pro)	LONRF1 (L120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119530	NM_152271.5(LONRF1):c.352G>A (p.Gly118Ser)	LONRF1 (G118S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534244	NM_152271.5(LONRF1):c.247C>G (p.Pro83Ala)	LONRF1 (P83A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534243	NM_152271.5(LONRF1):c.242C>T (p.Ala81Val)	LONRF1 (A81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351730	NM_152271.5(LONRF1):c.241G>A (p.Ala81Thr)	LONRF1 (A81T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534241	NM_152271.5(LONRF1):c.212T>A (p.Phe71Tyr)	LONRF1 (F71Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2372149	NM_152271.5(LONRF1):c.212T>G (p.Phe71Cys)	LONRF1 (F71C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208241	NM_152271.5(LONRF1):c.127G>A (p.Ala43Thr)	LONRF1 (A43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534240	NM_152271.5(LONRF1):c.100A>G (p.Ser34Gly)	LONRF1 (S34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534247	NM_152271.5(LONRF1):c.98G>A (p.Gly33Asp)	LONRF1 (G33D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365315	NM_152271.5(LONRF1):c.58G>T (p.Ala20Ser)	LONRF1 (A20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366549	NM_152271.5(LONRF1):c.56C>T (p.Pro19Leu)	LONRF1 (P19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119533	NM_152271.5(LONRF1):c.51G>A (p.Met17Ile)	LONRF1 (M17I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534246	NM_152271.5(LONRF1):c.49A>G (p.Met17Val)	LONRF1 (M17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534245	NM_152271.5(LONRF1):c.26C>G (p.Thr9Ser)	LONRF1 (T9S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2409422	NM_152271.5(LONRF1):c.11C>A (p.Pro4Gln)	LONRF1 (P4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063031	GRCh37/hg19 8p23.1-22(chr8:12560781-16099271)x3	C8orf48, DLC1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic

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