51574[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992968, LOC129992986 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 149944	GRCh38/hg38 4q25(chr4:112564382-112823236)x3	ANK2, LARP7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 1679684	Single allele	ANK2, LARP7 +13 more	Duplication	not provided	GUncertain significance
Select item 2028371	NM_016648.4(LARP7):c.9T>C (p.Thr3=)	LARP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 129478	NM_016648.4(LARP7):c.10G>A (p.Glu4Lys)	LARP7 (E4K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2365764	NM_016648.4(LARP7):c.23A>G (p.Gln8Arg)	LARP7 (Q8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1717589	NM_016648.4(LARP7):c.34A>G (p.Met12Val)	LARP7 (M12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2913543	NM_016648.4(LARP7):c.57_59del (p.Lys21del)	LARP7 (K21del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 777974	NM_016648.4(LARP7):c.62AAG[1] (p.Glu22del)	LARP7 (E22del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1308663	NM_016648.4(LARP7):c.64_65del (p.Glu22fs)	LARP7 (E22fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2035314	NM_016648.4(LARP7):c.66del (p.Val23fs)	LARP7 (V23fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 452712	NM_016648.4(LARP7):c.65A>T (p.Glu22Val)	LARP7 (E22V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2554384	NM_016648.4(LARP7):c.89G>A (p.Arg30Gln)	LARP7 (R30Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1323231	NM_016648.4(LARP7):c.119dup (p.Gln41fs)	LARP7 (Q41fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 790788	NM_016648.4(LARP7):c.141G>T (p.Gly47=)	LARP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1500522	NM_016648.4(LARP7):c.148A>C (p.Asn50His)	LARP7 (N50H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1478097	NM_016648.4(LARP7):c.191C>A (p.Ser64Tyr)	LARP7 (S64Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345970	NM_016648.4(LARP7):c.194G>A (p.Arg65Lys)	LARP7 (R65K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1626147	NM_016648.4(LARP7):c.202+10C>T	LARP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970781	NM_016648.4(LARP7):c.202+20_202+51del	LARP7	Deletion (intron variant)	not provided	GLikely benign
Select item 1273157	NM_016648.4(LARP7):c.202+264T>C	LARP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265867	NM_016648.4(LARP7):c.203-344_203-343dup	LARP7	Duplication (intron variant)	not provided	GBenign
Select item 2955155	NM_016648.4(LARP7):c.203-19A>C	LARP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847873	NM_016648.4(LARP7):c.203-18del	LARP7	Deletion (intron variant)	not provided	GLikely benign
Select item 666361	NM_016648.4(LARP7):c.203-12_231del	LARP7	Deletion (splice acceptor variant)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 2052108	NM_016648.4(LARP7):c.203-13T>C	LARP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452711	NM_016648.4(LARP7):c.203-3T>G	LARP7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 374899	NM_016648.4(LARP7):c.213_214dup (p.Ser72fs)	LARP7 (S72fs)	Microsatellite (frameshift variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 2505310	NM_016648.4(LARP7):c.223_229del (p.Val75fs)	LARP7 (V75fs)	Deletion (frameshift variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 1801475	NM_016648.4(LARP7):c.225_226del (p.Ser76fs)	LARP7 (S76fs)	Microsatellite (frameshift variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 1994502	NM_016648.4(LARP7):c.226T>C (p.Ser76Pro)	LARP7 (S76P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1530006	NM_016648.4(LARP7):c.231T>C (p.Phe77=)	LARP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1576281	NM_016648.4(LARP7):c.247T>C (p.Leu83=)	LARP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488839	NM_016648.4(LARP7):c.256G>A (p.Asp86Asn)	LARP7 (D7N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2996235	NM_016648.4(LARP7):c.268dup (p.Ile90fs)	LARP7 (I90fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1805499	NM_016648.4(LARP7):c.290C>A (p.Ser97Ter)	LARP7 (S18* +1 more)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 1323230	NM_016648.4(LARP7):c.297_303+2del	LARP7	Deletion (splice donor variant)	Microcephalic primordial dwarfism, Alazami type	GConflicting classifications of pathogenicity
Select item 426686	NM_016648.4(LARP7):c.298dup (p.Val100fs)	LARP7 (V100fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2278102	NM_016648.4(LARP7):c.299T>A (p.Val100Glu)	LARP7 (V100E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1932586	NM_016648.4(LARP7):c.305T>A (p.Leu102His)	LARP7 (L23H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991222	NM_016648.4(LARP7):c.313G>A (p.Glu105Lys)	LARP7 (E105K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3056026	NM_016648.4(LARP7):c.315A>G (p.Glu105=)	LARP7	Single nucleotide variant (synonymous variant)	LARP7-related disorder	GLikely benign
Select item 2181391	NM_016648.4(LARP7):c.318C>T (p.Gly106=)	LARP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218568	NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	LARP7 (T107I +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism, Alazami type +2 more	GConflicting classifications of pathogenicity
Select item 422202	NM_016648.4(LARP7):c.328C>T (p.Arg110Trp)	LARP7 (R110W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1429106	NM_016648.4(LARP7):c.335A>G (p.Lys112Arg)	LARP7 (K112R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3117877	NM_016648.4(LARP7):c.355C>T (p.Pro119Ser)	LARP7 (P119S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1995316	NM_016648.4(LARP7):c.361G>C (p.Asp121His)	LARP7 (D121H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966206	NM_016648.4(LARP7):c.363T>C (p.Asp121=)	LARP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986316	NM_016648.4(LARP7):c.377_378del (p.Thr126fs)	LARP7 (T47fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1379118	NM_016648.4(LARP7):c.386T>C (p.Val129Ala)	LARP7 (V50A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503070	NM_016648.4(LARP7):c.387+5G>C	LARP7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2171128	NM_016648.4(LARP7):c.387+6_387+7insA	LARP7	Insertion (intron variant)	not provided	GLikely benign
Select item 2171129	NM_016648.4(LARP7):c.387+7T>C	LARP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171130	NM_016648.4(LARP7):c.387+9A>G	LARP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171131	NM_016648.4(LARP7):c.387+10A>G	LARP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924353	NM_016648.4(LARP7):c.387+16C>T	LARP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2433410	NM_016648.4(LARP7):c.388-40G>A	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 1964251	NM_016648.4(LARP7):c.388-20T>G	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2769430	NM_016648.4(LARP7):c.388-6_388-5del	LARP7, MIR302CHG	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1911254	NM_016648.4(LARP7):c.388-7A>G	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2090306	NM_016648.4(LARP7):c.388-5A>C	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1578093	NM_016648.4(LARP7):c.396T>C (p.Leu132=)	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2130431	NM_016648.4(LARP7):c.404A>T (p.Asn135Ile)	LARP7, MIR302CHG (N56I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3065096	NM_016648.4(LARP7):c.414_415del (p.His138fs)	LARP7, MIR302CHG (H138fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 3340740	NM_016648.4(LARP7):c.420G>A (p.Trp140Ter)	LARP7, MIR302CHG (W140* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1324657	NM_016648.4(LARP7):c.422_429del (p.Ile141fs)	LARP7, MIR302CHG (I141fs +1 more)	Deletion (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 592141	NM_016648.4(LARP7):c.427del (p.Arg143fs)	LARP7, MIR302CHG (R143fs +1 more)	Deletion (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 1981063	NM_016648.4(LARP7):c.451G>A (p.Val151Ile)	LARP7, MIR302CHG (V151I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1647716	NM_016648.4(LARP7):c.453T>C (p.Val151=)	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1957190	NM_016648.4(LARP7):c.461_462del (p.Ile154fs)	LARP7, MIR302CHG (I75fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1914574	NM_016648.4(LARP7):c.465T>C (p.Ser155=)	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2753099	NM_016648.4(LARP7):c.492T>C (p.Asp164=)	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2383960	NM_016648.4(LARP7):c.493C>G (p.Pro165Ala)	LARP7, MIR302CHG (P86A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2983935	NM_016648.4(LARP7):c.501A>G (p.Gly167=)	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 523643	NM_016648.4(LARP7):c.503_504dup (p.Ala169fs)	MIR302CHG, LARP7 (A169fs +1 more)	Duplication (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 2088397	NM_016648.4(LARP7):c.503T>A (p.Phe168Tyr)	LARP7, MIR302CHG (F168Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2582056	NM_016648.4(LARP7):c.518T>C (p.Phe173Ser)	MIR302CHG, LARP7 (F173S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2766195	NM_016648.4(LARP7):c.520G>T (p.Glu174Ter)	LARP7, MIR302CHG (E95* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2185229	NM_016648.4(LARP7):c.552G>C (p.Glu184Asp)	LARP7, MIR302CHG (E105D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1974027	NM_016648.4(LARP7):c.552+2dup	LARP7, MIR302CHG	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1476484	NM_016648.4(LARP7):c.552+1G>A	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 377284	NM_016648.4(LARP7):c.552+1G>T	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3013270	NM_016648.4(LARP7):c.552+7C>T	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2988822	NM_016648.4(LARP7):c.552+7C>A	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1991441	NM_016648.4(LARP7):c.552+28dup	LARP7, MIR302CHG	Duplication (intron variant)	not provided	GBenign
Select item 1626982	NM_016648.4(LARP7):c.552+27_552+28del	LARP7, MIR302CHG	Deletion (intron variant)	not provided	GBenign
Select item 1260495	NM_016648.4(LARP7):c.552+33_552+36del	LARP7, MIR302CHG	Microsatellite (intron variant)	not provided	GBenign
Select item 522764	NM_016648.4(LARP7):c.552+31A>G	LARP7, MIR302CHG	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 809653	NM_016648.4(LARP7):c.556_558del (p.Leu186del)	LARP7, MIR302CHG (L107del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1569573	NM_016648.4(LARP7):c.561C>T (p.Asn187=)	LARP7, MIR302CHG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3290153	NM_016648.4(LARP7):c.590C>T (p.Pro197Leu)	LARP7, MIR302CHG (P197L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290152	NM_016648.4(LARP7):c.595A>T (p.Ile199Leu)	LARP7, MIR302CHG (I120L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973594	NM_016648.4(LARP7):c.597A>G (p.Ile199Met)	LARP7, MIR302CHG (I199M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 523963	NM_016648.4(LARP7):c.618_619insTT (p.Lys207fs)	LARP7, MIR302CHG (K207fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1955277	NM_016648.4(LARP7):c.618T>C (p.Asn206=)	LARP7, MIR302CHG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824153	NM_016648.4(LARP7):c.627dup (p.Pro210fs)	LARP7, MIR302CHG (P131fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic

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