ClinVar for Gene (Select 91694) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 152

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291063	NM_152271.5(LONRF1):c.247C>T (p.Pro83Ser)	LONRF1 (P83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291062	NM_152271.5(LONRF1):c.623A>C (p.Gln208Pro)	LONRF1 (Q208P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291061	NM_152271.5(LONRF1):c.515C>G (p.Ala172Gly)	LONRF1 (A172G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291060	NM_152271.5(LONRF1):c.1094A>G (p.Asn365Ser)	LONRF1 (N365S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3291059	NM_152271.5(LONRF1):c.2020G>A (p.Glu674Lys)	LONRF1 (E663K +1 more)	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 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 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 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 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 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 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 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 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 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 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 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 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	ADAM18, ADAM2 +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
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684527	GRCh37/hg19 8p23.1-22(chr8:12560782-13948729)x3	C8orf48, DLC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
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 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 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1808445	GRCh37/hg19 8p23.1-22(chr8:12552776-13937912)x3	C8orf48, DLC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815099	GRCh37/hg19 8p23.1-22(chr8:12490998-13074855)x3	DLC1, LONRF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 585238	GRCh37/hg19 8p23.1-22(chr8:12559475-13050887)x3	DLC1, LONRF1 +1 more	Copy number gain	not provided	Gnot provided
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MTMR9, MYOM2 +73 more	Copy number gain	not provided	GPathogenic
Select item 563509	GRCh37/hg19 8p23.1-22(chr8:12549214-13269408)x3	DLC1, LONRF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442870	GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1	AGPAT5, ANGPT2 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 442555	GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3	ASAH1, ASAH1-AS1 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442237	GRCh37/hg19 8p23.1-22(chr8:12490999-14047332)x1	C8orf48, DLC1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2