ClinVar for Gene (Select 79778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294795	NM_182924.4(MICALL2):c.2260C>A (p.Leu754Met)	MICALL2 (L754M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294794	NM_182924.4(MICALL2):c.565G>C (p.Gly189Arg)	MICALL2 (G189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294793	NM_182924.4(MICALL2):c.173T>C (p.Ile58Thr)	MICALL2 (I58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294792	NM_182924.4(MICALL2):c.914A>G (p.Asn305Ser)	MICALL2 (N305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294791	NM_182924.4(MICALL2):c.1704A>C (p.Leu568Phe)	MICALL2 (L568F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294790	NM_182924.4(MICALL2):c.1741G>A (p.Glu581Lys)	MICALL2 (E581K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294789	NM_182924.4(MICALL2):c.1336G>A (p.Asp446Asn)	MICALL2 (D446N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294788	NM_182924.4(MICALL2):c.1402G>A (p.Ala468Thr)	MICALL2 (A468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294787	NM_182924.4(MICALL2):c.199C>T (p.Arg67Cys)	MICALL2 (R67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294786	NM_182924.4(MICALL2):c.1316C>T (p.Pro439Leu)	MICALL2 (P439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294785	NM_182924.4(MICALL2):c.1710G>C (p.Gln570His)	MICALL2 (Q570H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126283	NM_182924.4(MICALL2):c.967T>C (p.Ser323Pro)	MICALL2 (S323P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126282	NM_182924.4(MICALL2):c.830A>G (p.Gln277Arg)	MICALL2 (Q277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126281	NM_182924.4(MICALL2):c.815C>T (p.Ser272Phe)	MICALL2 (S272F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126280	NM_182924.4(MICALL2):c.752A>G (p.Lys251Arg)	MICALL2 (K251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126279	NM_182924.4(MICALL2):c.716C>G (p.Thr239Ser)	MICALL2 (T239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126278	NM_182924.4(MICALL2):c.626A>G (p.His209Arg)	MICALL2 (H209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126277	NM_182924.4(MICALL2):c.610G>A (p.Asp204Asn)	MICALL2 (D204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126276	NM_182924.4(MICALL2):c.60C>G (p.Asp20Glu)	LOC129997772, MICALL2 (D20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126275	NM_182924.4(MICALL2):c.413C>T (p.Ala138Val)	MICALL2 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126274	NM_182924.4(MICALL2):c.335T>C (p.Ile112Thr)	MICALL2 (I112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126273	NM_182924.4(MICALL2):c.299C>T (p.Ser100Phe)	MICALL2 (S100F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126272	NM_182924.4(MICALL2):c.2675A>G (p.Lys892Arg)	MICALL2 (K892R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126271	NM_182924.4(MICALL2):c.2542G>A (p.Val848Met)	MICALL2 (V848M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126270	NM_182924.4(MICALL2):c.2435T>G (p.Leu812Arg)	MICALL2 (L812R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126269	NM_182924.4(MICALL2):c.2434C>G (p.Leu812Val)	MICALL2 (L812V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126268	NM_182924.4(MICALL2):c.2317G>A (p.Ala773Thr)	MICALL2 (A773T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126267	NM_182924.4(MICALL2):c.2302G>T (p.Ala768Ser)	MICALL2 (A768S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126266	NM_182924.4(MICALL2):c.2113G>A (p.Gly705Ser)	MICALL2 (G705S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126265	NM_182924.4(MICALL2):c.2038C>T (p.Leu680Phe)	MICALL2 (L680F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126264	NM_182924.4(MICALL2):c.2023G>A (p.Val675Ile)	MICALL2 (V675I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126263	NM_182924.4(MICALL2):c.1936C>T (p.Arg646Cys)	MICALL2 (R646C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126262	NM_182924.4(MICALL2):c.1858G>A (p.Ala620Thr)	MICALL2 (A620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126259	NM_182924.4(MICALL2):c.1562G>A (p.Ser521Asn)	MICALL2 (S521N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126258	NM_182924.4(MICALL2):c.1526G>T (p.Gly509Val)	MICALL2 (G509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126257	NM_182924.4(MICALL2):c.1463C>T (p.Thr488Ile)	MICALL2 (T488I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126256	NM_182924.4(MICALL2):c.142A>C (p.Ile48Leu)	MICALL2 (I48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126255	NM_182924.4(MICALL2):c.1358G>A (p.Arg453Gln)	MICALL2 (R453Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126254	NM_182924.4(MICALL2):c.1268C>T (p.Thr423Ile)	MICALL2 (T423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126253	NM_182924.4(MICALL2):c.1199C>T (p.Thr400Met)	MICALL2 (T400M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126252	NM_182924.4(MICALL2):c.1010G>A (p.Arg337His)	MICALL2 (R337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657180	NM_182924.4(MICALL2):c.872C>T (p.Ala291Val)	MICALL2 (A291V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657179	NM_182924.4(MICALL2):c.2316C>T (p.Asp772=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620786	NM_182924.4(MICALL2):c.698C>A (p.Pro233Gln)	MICALL2 (P233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614626	NM_182924.4(MICALL2):c.2299G>T (p.Ala767Ser)	MICALL2 (A767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604782	NM_182924.4(MICALL2):c.1022C>T (p.Thr341Ile)	MICALL2 (T341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604591	NM_182924.4(MICALL2):c.781G>A (p.Gly261Arg)	MICALL2 (G261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601685	NM_182924.4(MICALL2):c.1990C>T (p.Arg664Cys)	MICALL2 (R664C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599945	NM_182924.4(MICALL2):c.2266C>T (p.Leu756Phe)	MICALL2 (L756F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598629	NM_182924.4(MICALL2):c.34C>T (p.Arg12Trp)	LOC129997772, MICALL2 (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595457	NM_182924.4(MICALL2):c.1964C>T (p.Pro655Leu)	MICALL2 (P655L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591446	NM_182924.4(MICALL2):c.1850C>T (p.Ala617Val)	MICALL2 (A617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570379	NM_182924.4(MICALL2):c.1943C>T (p.Ala648Val)	MICALL2 (A648V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569799	NM_182924.4(MICALL2):c.1788G>T (p.Arg596Ser)	MICALL2 (R596S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569601	NM_182924.4(MICALL2):c.2563G>T (p.Val855Leu)	MICALL2 (V855L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554678	NM_182924.4(MICALL2):c.322G>A (p.Gly108Ser)	MICALL2 (G108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546764	NM_182924.4(MICALL2):c.10A>G (p.Ile4Val)	LOC129997772, MICALL2 (I4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537799	NM_182924.4(MICALL2):c.1267A>G (p.Thr423Ala)	MICALL2 (T423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533721	NM_182924.4(MICALL2):c.1003A>G (p.Lys335Glu)	MICALL2 (K335E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526976	NM_182924.4(MICALL2):c.2012C>G (p.Ala671Gly)	MICALL2 (A671G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524758	NM_182924.4(MICALL2):c.2511G>C (p.Glu837Asp)	MICALL2 (E837D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523348	NM_182924.4(MICALL2):c.2617C>T (p.Arg873Trp)	MICALL2 (R873W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520371	NM_182924.4(MICALL2):c.1686G>T (p.Lys562Asn)	MICALL2 (K562N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518930	NM_182924.4(MICALL2):c.200G>A (p.Arg67His)	MICALL2 (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518900	NM_182924.4(MICALL2):c.58G>A (p.Asp20Asn)	LOC129997772, MICALL2 (D20N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516623	NM_182924.4(MICALL2):c.686C>T (p.Ala229Val)	MICALL2 (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495597	NM_182924.4(MICALL2):c.1301G>T (p.Gly434Val)	MICALL2 (G434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491468	NM_182924.4(MICALL2):c.898G>T (p.Val300Phe)	MICALL2 (V300F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484833	NM_182924.4(MICALL2):c.934A>C (p.Thr312Pro)	MICALL2 (T312P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482877	NM_182924.4(MICALL2):c.1183T>G (p.Ser395Ala)	MICALL2 (S395A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481205	NM_182924.4(MICALL2):c.2464A>G (p.Met822Val)	MICALL2 (M822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473335	NM_182924.4(MICALL2):c.1070C>T (p.Ala357Val)	MICALL2 (A357V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460949	NM_182924.4(MICALL2):c.1517G>A (p.Arg506Gln)	MICALL2 (R506Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426527	NC_000007.13:g.(?_193200)_(1498962_?)del	FAM20C, GET4 +13 more	Deletion	not provided	GPathogenic
Select item 2412340	NM_182924.4(MICALL2):c.1606A>G (p.Arg536Gly)	MICALL2 (R536G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411411	NM_182924.4(MICALL2):c.2042G>A (p.Arg681Gln)	MICALL2 (R681Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410511	NM_182924.4(MICALL2):c.1483C>A (p.Pro495Thr)	MICALL2 (P495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410192	NM_182924.4(MICALL2):c.1555C>A (p.Pro519Thr)	MICALL2 (P519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409226	NM_182924.4(MICALL2):c.1913C>T (p.Pro638Leu)	MICALL2 (P638L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406870	NM_182924.4(MICALL2):c.1455G>C (p.Gln485His)	MICALL2 (Q485H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401171	NM_182924.4(MICALL2):c.2144A>G (p.Asn715Ser)	MICALL2 (N715S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398225	NM_182924.4(MICALL2):c.2665C>T (p.Arg889Cys)	MICALL2 (R889C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396895	NM_182924.4(MICALL2):c.2548G>A (p.Asp850Asn)	MICALL2 (D850N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394080	NM_182924.4(MICALL2):c.1118C>T (p.Pro373Leu)	MICALL2 (P373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391615	NM_182924.4(MICALL2):c.976C>T (p.Arg326Cys)	MICALL2 (R326C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388272	NM_182924.4(MICALL2):c.1636G>A (p.Gly546Ser)	MICALL2 (G546S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386376	NM_182924.4(MICALL2):c.138C>G (p.Asp46Glu)	MICALL2 (D46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381527	NM_182924.4(MICALL2):c.1357C>T (p.Arg453Trp)	MICALL2 (R453W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378185	NM_182924.4(MICALL2):c.1714A>G (p.Met572Val)	MICALL2 (M572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377306	NM_182924.4(MICALL2):c.2135C>T (p.Ser712Phe)	MICALL2 (S712F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370450	NM_182924.4(MICALL2):c.1588G>A (p.Ala530Thr)	MICALL2 (A530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368733	NM_182924.4(MICALL2):c.1829G>A (p.Arg610Gln)	MICALL2 (R610Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365719	NM_182924.4(MICALL2):c.2417G>A (p.Arg806His)	MICALL2 (R806H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363972	NM_182924.4(MICALL2):c.1661C>T (p.Pro554Leu)	MICALL2 (P554L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354476	NM_182924.4(MICALL2):c.2575G>A (p.Asp859Asn)	MICALL2 (D859N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344929	NM_182924.4(MICALL2):c.1058C>T (p.Pro353Leu)	MICALL2 (P353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342990	NM_182924.4(MICALL2):c.1135G>A (p.Gly379Arg)	MICALL2 (G379R)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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