CARNS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 3263342	NM_001166222.2(CARNS1):c.8C>T (p.Ser3Phe)	CARNS1 (S3F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137409	NM_001166222.2(CARNS1):c.37T>G (p.Cys13Gly)	CARNS1 (C13G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263349	NM_001166222.2(CARNS1):c.71G>A (p.Gly24Asp)	CARNS1 (G24D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528586	NM_001166222.2(CARNS1):c.98C>T (p.Pro33Leu)	CARNS1 (P33L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386028	NM_001166222.2(CARNS1):c.127C>T (p.Arg43Cys)	CARNS1 (R43C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488896	NM_001166222.2(CARNS1):c.165G>C (p.Glu55Asp)	CARNS1 (E55D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305968	NM_001166222.2(CARNS1):c.170C>T (p.Ala57Val)	CARNS1 (A57V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263341	NM_001166222.2(CARNS1):c.178C>T (p.Arg60Trp)	CARNS1 (R60W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2412517	NM_001166222.2(CARNS1):c.218G>A (p.Cys73Tyr)	CARNS1 (C73Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489859	NM_001166222.2(CARNS1):c.227A>G (p.Gln76Arg)	CARNS1 (Q76R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468656	NM_001166222.2(CARNS1):c.248A>G (p.Gln83Arg)	CARNS1 (Q83R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373272	NM_001166222.2(CARNS1):c.254G>T (p.Arg85Leu)	CARNS1 (R85L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137408	NM_001166222.2(CARNS1):c.287C>T (p.Ala96Val)	CARNS1 (A96V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137410	NM_001166222.2(CARNS1):c.434C>T (p.Ala145Val)	CARNS1 (A22V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137411	NM_001166222.2(CARNS1):c.454G>T (p.Ala152Ser)	CARNS1 (A122S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137412	NM_001166222.2(CARNS1):c.457G>T (p.Val153Leu)	CARNS1 (V153L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137413	NM_001166222.2(CARNS1):c.508C>T (p.Arg170Cys)	CARNS1 (R47C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263332	NM_001166222.2(CARNS1):c.511C>T (p.Arg171Cys)	CARNS1 (R141C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455185	NM_001166222.2(CARNS1):c.512G>A (p.Arg171His)	CARNS1 (R141H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469513	NM_001166222.2(CARNS1):c.520T>C (p.Tyr174His)	CARNS1 (Y51H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316763	NM_001166222.2(CARNS1):c.553C>T (p.Arg185Trp)	CARNS1 (R62W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263334	NM_001166222.2(CARNS1):c.623G>A (p.Arg208Gln)	CARNS1 (R178Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402944	NM_001166222.2(CARNS1):c.808G>T (p.Val270Leu)	CARNS1 (V147L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462820	NM_001166222.2(CARNS1):c.838G>A (p.Gly280Ser)	CARNS1 (G157S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137414	NM_001166222.2(CARNS1):c.889C>T (p.Arg297Trp)	CARNS1 (R174W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393970	NM_001166222.2(CARNS1):c.902G>A (p.Arg301His)	CARNS1 (R271H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2642016	NM_001166222.2(CARNS1):c.911C>T (p.Pro304Leu)	CARNS1 (P181L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3137415	NM_001166222.2(CARNS1):c.931G>A (p.Val311Met)	CARNS1 (V188M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137416	NM_001166222.2(CARNS1):c.958G>C (p.Glu320Gln)	CARNS1 (E197Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137395	NM_001166222.2(CARNS1):c.1042G>A (p.Gly348Ser)	CARNS1 (G225S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289667	NM_001166222.2(CARNS1):c.1049G>T (p.Gly350Val)	CARNS1 (G320V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244134	NM_001166222.2(CARNS1):c.1061G>A (p.Arg354Gln)	CARNS1 (R324Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324246	NM_001166222.2(CARNS1):c.1097G>A (p.Arg366Lys)	CARNS1 (R243K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137396	NM_001166222.2(CARNS1):c.1142G>T (p.Arg381Leu)	CARNS1, LOC130006195 (R258L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299586	NM_001166222.2(CARNS1):c.1145C>T (p.Pro382Leu)	CARNS1, LOC130006195 (P382L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137397	NM_001166222.2(CARNS1):c.1169C>T (p.Pro390Leu)	CARNS1, LOC130006195 (P390L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317180	NM_001166222.2(CARNS1):c.1231G>C (p.Val411Leu)	CARNS1, LOC130006195 (V381L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263344	NM_001166222.2(CARNS1):c.1258G>C (p.Glu420Gln)	CARNS1, LOC130006195 (E420Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532458	NM_001166222.2(CARNS1):c.1378G>A (p.Val460Met)	CARNS1, LOC130006195 (V337M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263343	NM_001166222.2(CARNS1):c.1443G>C (p.Glu481Asp)	CARNS1, LOC130006195 (E451D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396589	NM_001166222.2(CARNS1):c.1450T>G (p.Trp484Gly)	CARNS1, LOC130006195 (W361G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137398	NM_001166222.2(CARNS1):c.1482C>A (p.Asp494Glu)	CARNS1, LOC130006196 (D371E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285977	NM_001166222.2(CARNS1):c.1483G>A (p.Glu495Lys)	CARNS1, LOC130006196 (E495K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612339	NM_001166222.2(CARNS1):c.1520G>T (p.Arg507Leu)	CARNS1, LOC130006196 (R384L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408941	NM_001166222.2(CARNS1):c.1547G>C (p.Gly516Ala)	CARNS1, LOC130006196 (G393A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263339	NM_001166222.2(CARNS1):c.1559T>C (p.Leu520Pro)	CARNS1, LOC130006196 (L397P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489571	NM_001166222.2(CARNS1):c.1592T>C (p.Phe531Ser)	CARNS1, LOC130006196 (F408S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606056	NM_001166222.2(CARNS1):c.1607C>T (p.Ala536Val)	CARNS1, LOC130006196 (A536V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263333	NM_001166222.2(CARNS1):c.1612G>A (p.Asp538Asn)	CARNS1, LOC130006196 (D415N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248871	NM_001166222.2(CARNS1):c.1621C>A (p.Leu541Ile)	CARNS1, LOC130006196 (L511I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263347	NM_001166222.2(CARNS1):c.1636G>A (p.Val546Met)	CARNS1 (V423M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137399	NM_001166222.2(CARNS1):c.1648C>T (p.Pro550Ser)	CARNS1 (P550S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137400	NM_001166222.2(CARNS1):c.1709G>A (p.Arg570Gln)	CARNS1 (R447Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592115	NM_001166222.2(CARNS1):c.1720G>A (p.Glu574Lys)	CARNS1 (E544K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590442	NM_001166222.2(CARNS1):c.1751G>A (p.Arg584Gln)	CARNS1 (R461Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137401	NM_001166222.2(CARNS1):c.1759G>A (p.Gly587Ser)	CARNS1 (G557S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407014	NM_001166222.2(CARNS1):c.1856C>A (p.Ala619Asp)	CARNS1 (A496D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603575	NM_001166222.2(CARNS1):c.1865G>A (p.Arg622His)	CARNS1 (R499H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263331	NM_001166222.2(CARNS1):c.1906C>T (p.His636Tyr)	CARNS1 (H606Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263337	NM_001166222.2(CARNS1):c.1909C>T (p.His637Tyr)	CARNS1 (H637Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531076	NM_001166222.2(CARNS1):c.1954T>C (p.Cys652Arg)	CARNS1 (C529R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606281	NM_001166222.2(CARNS1):c.1993G>A (p.Val665Met)	CARNS1 (V635M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263330	NM_001166222.2(CARNS1):c.2072C>T (p.Ala691Val)	CARNS1 (A691V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487862	NM_001166222.2(CARNS1):c.2098C>T (p.Arg700Trp)	CARNS1 (R670W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137402	NM_001166222.2(CARNS1):c.2114T>G (p.Leu705Trp)	CARNS1 (L582W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246796	NM_001166222.2(CARNS1):c.2201A>G (p.Asp734Gly)	CARNS1 (D704G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330130	NM_001166222.2(CARNS1):c.2227C>T (p.Arg743Trp)	CARNS1 (R620W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137403	NM_001166222.2(CARNS1):c.2228G>A (p.Arg743Gln)	CARNS1 (R620Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263336	NM_001166222.2(CARNS1):c.2264C>T (p.Thr755Met)	CARNS1 (T725M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253706	NM_001166222.2(CARNS1):c.2273C>T (p.Pro758Leu)	CARNS1 (P728L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263345	NM_001166222.2(CARNS1):c.2308G>A (p.Gly770Arg)	CARNS1 (G647R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265907	NM_001166222.2(CARNS1):c.2455G>A (p.Gly819Ser)	CARNS1 (G696S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137405	NM_001166222.2(CARNS1):c.2468G>A (p.Arg823His)	CARNS1 (R700H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335233	NM_001166222.2(CARNS1):c.2543C>T (p.Ala848Val)	CARNS1 (A848V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517075	NM_001166222.2(CARNS1):c.2561G>A (p.Arg854His)	CARNS1 (R731H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263340	NM_001166222.2(CARNS1):c.2566C>T (p.Arg856Cys)	CARNS1 (R856C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263348	NM_001166222.2(CARNS1):c.2603A>G (p.Gln868Arg)	CARNS1 (Q868R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263338	NM_001166222.2(CARNS1):c.2662C>T (p.Arg888Cys)	CARNS1 (R765C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303774	NM_001166222.2(CARNS1):c.2663G>A (p.Arg888His)	CARNS1 (R888H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237758	NM_001166222.2(CARNS1):c.2708G>A (p.Gly903Asp)	CARNS1 (G780D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243838	NM_001166222.2(CARNS1):c.2719G>A (p.Glu907Lys)	CARNS1 (E877K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317257	NM_001166222.2(CARNS1):c.2765C>T (p.Ala922Val)	CARNS1 (A799V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592118	NM_001166222.2(CARNS1):c.2767C>T (p.Arg923Cys)	CARNS1 (R893C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137407	NM_001166222.2(CARNS1):c.2768G>A (p.Arg923His)	CARNS1 (R923H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328930	NM_001166222.2(CARNS1):c.2770C>A (p.Leu924Ile)	CARNS1 (L801I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363416	NM_001166222.2(CARNS1):c.2800G>A (p.Gly934Ser)	CARNS1 (G811S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563826	GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1	TBC1D10C, GPR152 +12 more	Copy number loss	not provided	GUncertain significance

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