"Ambry Genetics"[submitter] AND "CARNS1"[gene] - ClinVar

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Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2528586	NM_001166222.2(CARNS1):c.98C>T (p.Pro33Leu)	CARNS1 (P33L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2386028	NM_001166222.2(CARNS1):c.127C>T (p.Arg43Cys)	CARNS1 (R43C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2488896	NM_001166222.2(CARNS1):c.165G>C (p.Glu55Asp)	CARNS1 (E55D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2305968	NM_001166222.2(CARNS1):c.170C>T (p.Ala57Val)	CARNS1 (A57V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2412517	NM_001166222.2(CARNS1):c.218G>A (p.Cys73Tyr)	CARNS1 (C73Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489859	NM_001166222.2(CARNS1):c.227A>G (p.Gln76Arg)	CARNS1 (Q76R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468656	NM_001166222.2(CARNS1):c.248A>G (p.Gln83Arg)	CARNS1 (Q83R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2373272	NM_001166222.2(CARNS1):c.254G>T (p.Arg85Leu)	CARNS1 (R85L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2455185	NM_001166222.2(CARNS1):c.512G>A (p.Arg171His)	CARNS1 (R141H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469513	NM_001166222.2(CARNS1):c.520T>C (p.Tyr174His)	CARNS1 (Y51H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316763	NM_001166222.2(CARNS1):c.553C>T (p.Arg185Trp)	CARNS1 (R62W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402944	NM_001166222.2(CARNS1):c.808G>T (p.Val270Leu)	CARNS1 (V147L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462820	NM_001166222.2(CARNS1):c.838G>A (p.Gly280Ser)	CARNS1 (G157S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393970	NM_001166222.2(CARNS1):c.902G>A (p.Arg301His)	CARNS1 (R271H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2289667	NM_001166222.2(CARNS1):c.1049G>T (p.Gly350Val)	CARNS1 (G320V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244134	NM_001166222.2(CARNS1):c.1061G>A (p.Arg354Gln)	CARNS1 (R324Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324246	NM_001166222.2(CARNS1):c.1097G>A (p.Arg366Lys)	CARNS1 (R243K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299586	NM_001166222.2(CARNS1):c.1145C>T (p.Pro382Leu)	CARNS1, LOC130006195 (P382L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317180	NM_001166222.2(CARNS1):c.1231G>C (p.Val411Leu)	CARNS1, LOC130006195 (V381L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532458	NM_001166222.2(CARNS1):c.1378G>A (p.Val460Met)	CARNS1, LOC130006195 (V337M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2396589	NM_001166222.2(CARNS1):c.1450T>G (p.Trp484Gly)	CARNS1, LOC130006195 (W361G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285977	NM_001166222.2(CARNS1):c.1483G>A (p.Glu495Lys)	CARNS1, LOC130006196 (E495K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612339	NM_001166222.2(CARNS1):c.1520G>T (p.Arg507Leu)	CARNS1, LOC130006196 (R384L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408941	NM_001166222.2(CARNS1):c.1547G>C (p.Gly516Ala)	CARNS1, LOC130006196 (G393A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489571	NM_001166222.2(CARNS1):c.1592T>C (p.Phe531Ser)	CARNS1, LOC130006196 (F408S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606056	NM_001166222.2(CARNS1):c.1607C>T (p.Ala536Val)	CARNS1, LOC130006196 (A536V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248871	NM_001166222.2(CARNS1):c.1621C>A (p.Leu541Ile)	CARNS1, LOC130006196 (L511I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592115	NM_001166222.2(CARNS1):c.1720G>A (p.Glu574Lys)	CARNS1 (E544K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590442	NM_001166222.2(CARNS1):c.1751G>A (p.Arg584Gln)	CARNS1 (R461Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407014	NM_001166222.2(CARNS1):c.1856C>A (p.Ala619Asp)	CARNS1 (A496D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603575	NM_001166222.2(CARNS1):c.1865G>A (p.Arg622His)	CARNS1 (R499H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531076	NM_001166222.2(CARNS1):c.1954T>C (p.Cys652Arg)	CARNS1 (C529R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606281	NM_001166222.2(CARNS1):c.1993G>A (p.Val665Met)	CARNS1 (V635M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487862	NM_001166222.2(CARNS1):c.2098C>T (p.Arg700Trp)	CARNS1 (R670W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246796	NM_001166222.2(CARNS1):c.2201A>G (p.Asp734Gly)	CARNS1 (D704G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330130	NM_001166222.2(CARNS1):c.2227C>T (p.Arg743Trp)	CARNS1 (R620W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253706	NM_001166222.2(CARNS1):c.2273C>T (p.Pro758Leu)	CARNS1 (P728L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265907	NM_001166222.2(CARNS1):c.2455G>A (p.Gly819Ser)	CARNS1 (G696S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335233	NM_001166222.2(CARNS1):c.2543C>T (p.Ala848Val)	CARNS1 (A848V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517075	NM_001166222.2(CARNS1):c.2561G>A (p.Arg854His)	CARNS1 (R731H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303774	NM_001166222.2(CARNS1):c.2663G>A (p.Arg888His)	CARNS1 (R888H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237758	NM_001166222.2(CARNS1):c.2708G>A (p.Gly903Asp)	CARNS1 (G780D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243838	NM_001166222.2(CARNS1):c.2719G>A (p.Glu907Lys)	CARNS1 (E877K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317257	NM_001166222.2(CARNS1):c.2765C>T (p.Ala922Val)	CARNS1 (A799V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592118	NM_001166222.2(CARNS1):c.2767C>T (p.Arg923Cys)	CARNS1 (R893C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328930	NM_001166222.2(CARNS1):c.2770C>A (p.Leu924Ile)	CARNS1 (L801I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363416	NM_001166222.2(CARNS1):c.2800G>A (p.Gly934Ser)	CARNS1 (G811S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 47