ClinVar for Gene (Select 23166) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323006	NM_015136.3(STAB1):c.5489G>A (p.Arg1830Gln)	STAB1 (R1830Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323005	NM_015136.3(STAB1):c.920T>G (p.Val307Gly)	STAB1 (V307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323004	NM_015136.3(STAB1):c.5728C>T (p.Arg1910Cys)	STAB1 (R1910C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323003	NM_015136.3(STAB1):c.4366G>A (p.Val1456Met)	STAB1 (V1456M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323002	NM_015136.3(STAB1):c.3377C>T (p.Pro1126Leu)	STAB1 (P1126L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323001	NM_015136.3(STAB1):c.610T>C (p.Cys204Arg)	STAB1 (C204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323000	NM_015136.3(STAB1):c.3586G>A (p.Ala1196Thr)	STAB1 (A1196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322999	NM_015136.3(STAB1):c.4677C>A (p.Ser1559Arg)	STAB1 (S1559R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322998	NM_015136.3(STAB1):c.1083C>G (p.His361Gln)	STAB1 (H361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322997	NM_015136.3(STAB1):c.3401A>G (p.Gln1134Arg)	STAB1 (Q1134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322996	NM_015136.3(STAB1):c.3452A>G (p.His1151Arg)	STAB1 (H1151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322995	NM_015136.3(STAB1):c.1426T>C (p.Tyr476His)	STAB1 (Y476H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322994	NM_015136.3(STAB1):c.4273G>A (p.Asp1425Asn)	STAB1 (D1425N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322993	NM_015136.3(STAB1):c.14G>A (p.Arg5Gln)	STAB1 (R5Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322992	NM_015136.3(STAB1):c.4268A>C (p.Lys1423Thr)	STAB1 (K1423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322991	NM_015136.3(STAB1):c.1195G>A (p.Val399Met)	STAB1 (V399M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322990	NM_015136.3(STAB1):c.6940G>A (p.Val2314Met)	STAB1 (V2314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322989	NM_015136.3(STAB1):c.2036C>G (p.Pro679Arg)	STAB1 (P679R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322988	NM_015136.3(STAB1):c.2902G>T (p.Gly968Trp)	STAB1 (G968W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322987	NM_015136.3(STAB1):c.6424G>A (p.Gly2142Arg)	STAB1 (G2142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322986	NM_015136.3(STAB1):c.3041C>T (p.Thr1014Met)	STAB1 (T1014M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322985	NM_015136.3(STAB1):c.142G>A (p.Ala48Thr)	STAB1 (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301223	NM_001134231.2(NT5DC2):c.1669C>T (p.Arg557Cys)	NT5DC2, STAB1 (R557C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170799	NM_015136.3(STAB1):c.857A>G (p.Asn286Ser)	STAB1 (N286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170798	NM_015136.3(STAB1):c.743C>G (p.Ser248Trp)	STAB1 (S248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170797	NM_015136.3(STAB1):c.7315C>T (p.Arg2439Cys)	STAB1 (R2439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170795	NM_015136.3(STAB1):c.7235G>T (p.Gly2412Val)	STAB1 (G2412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170794	NM_015136.3(STAB1):c.655T>A (p.Cys219Ser)	STAB1 (C219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170793	NM_015136.3(STAB1):c.5930G>A (p.Ser1977Asn)	STAB1 (S1977N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170792	NM_015136.3(STAB1):c.5828G>A (p.Gly1943Asp)	STAB1 (G1943D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170791	NM_015136.3(STAB1):c.5785G>T (p.Val1929Phe)	STAB1 (V1929F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170790	NM_015136.3(STAB1):c.5750C>T (p.Thr1917Met)	STAB1 (T1917M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170789	NM_015136.3(STAB1):c.5732T>C (p.Phe1911Ser)	STAB1 (F1911S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170788	NM_015136.3(STAB1):c.5635C>T (p.Arg1879Trp)	STAB1 (R1879W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170786	NM_015136.3(STAB1):c.5261G>T (p.Arg1754Leu)	STAB1 (R1754L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170785	NM_015136.3(STAB1):c.5213A>G (p.Lys1738Arg)	STAB1 (K1738R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170784	NM_015136.3(STAB1):c.5194G>A (p.Ala1732Thr)	STAB1 (A1732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170783	NM_015136.3(STAB1):c.5164C>T (p.Pro1722Ser)	STAB1 (P1722S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170782	NM_015136.3(STAB1):c.5162C>T (p.Ala1721Val)	STAB1 (A1721V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170781	NM_015136.3(STAB1):c.4930C>T (p.Arg1644Cys)	STAB1 (R1644C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170780	NM_015136.3(STAB1):c.4751G>A (p.Arg1584Gln)	STAB1 (R1584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170779	NM_015136.3(STAB1):c.4094C>T (p.Thr1365Met)	STAB1 (T1365M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170778	NM_015136.3(STAB1):c.3838C>A (p.Arg1280Ser)	STAB1 (R1280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170777	NM_015136.3(STAB1):c.3790C>A (p.His1264Asn)	STAB1 (H1264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170776	NM_015136.3(STAB1):c.3770C>T (p.Ser1257Leu)	STAB1 (S1257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170775	NM_015136.3(STAB1):c.3506C>A (p.Thr1169Asn)	STAB1 (T1169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170774	NM_015136.3(STAB1):c.3484G>A (p.Ala1162Thr)	STAB1 (A1162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170773	NM_015136.3(STAB1):c.3460G>A (p.Val1154Met)	STAB1 (V1154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170772	NM_015136.3(STAB1):c.3370G>A (p.Asp1124Asn)	STAB1 (D1124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170771	NM_015136.3(STAB1):c.3202C>T (p.Arg1068Trp)	STAB1 (R1068W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170770	NM_015136.3(STAB1):c.3140C>T (p.Thr1047Met)	STAB1 (T1047M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170769	NM_015136.3(STAB1):c.3124T>C (p.Trp1042Arg)	STAB1 (W1042R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170768	NM_015136.3(STAB1):c.3109G>A (p.Glu1037Lys)	STAB1 (E1037K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170767	NM_015136.3(STAB1):c.3082G>A (p.Glu1028Lys)	STAB1 (E1028K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170766	NM_015136.3(STAB1):c.2945G>A (p.Gly982Asp)	STAB1 (G982D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170765	NM_015136.3(STAB1):c.2755G>A (p.Asp919Asn)	STAB1 (D919N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170764	NM_015136.3(STAB1):c.2719G>A (p.Glu907Lys)	STAB1 (E907K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170763	NM_015136.3(STAB1):c.2680G>A (p.Gly894Ser)	STAB1 (G894S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170762	NM_015136.3(STAB1):c.2638G>A (p.Val880Ile)	STAB1 (V880I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170761	NM_015136.3(STAB1):c.2539C>T (p.Arg847Cys)	STAB1 (R847C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170760	NM_015136.3(STAB1):c.2351G>A (p.Cys784Tyr)	STAB1 (C784Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170759	NM_015136.3(STAB1):c.2164A>C (p.Lys722Gln)	STAB1 (K722Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170757	NM_015136.3(STAB1):c.2036C>A (p.Pro679His)	STAB1 (P679H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170756	NM_015136.3(STAB1):c.2032C>G (p.Pro678Ala)	STAB1 (P678A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170755	NM_015136.3(STAB1):c.182G>A (p.Arg61Gln)	STAB1 (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170754	NM_015136.3(STAB1):c.1820T>C (p.Ile607Thr)	STAB1 (I607T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170753	NM_015136.3(STAB1):c.1804G>T (p.Val602Phe)	STAB1 (V602F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170752	NM_015136.3(STAB1):c.1756G>A (p.Val586Ile)	STAB1 (V586I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170751	NM_015136.3(STAB1):c.1562G>A (p.Arg521His)	STAB1 (R521H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170750	NM_015136.3(STAB1):c.1162C>T (p.Arg388Trp)	STAB1 (R388W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170749	NM_015136.3(STAB1):c.1138G>A (p.Val380Met)	STAB1 (V380M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170748	NM_015136.3(STAB1):c.1069G>A (p.Gly357Arg)	STAB1 (G357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3024156	NM_015136.3(STAB1):c.7328G>A (p.Trp2443Ter)	STAB1 (W2443*)	Single nucleotide variant (nonsense)	Isolated hyperferritinemia	GAffects
Select item 3024155	NM_015136.3(STAB1):c.1042G>A (p.Glu348Lys)	STAB1 (E348K)	Single nucleotide variant (missense variant)	Isolated hyperferritinemia	GAffects
Select item 3024154	NM_015136.3(STAB1):c.7016A>G (p.Tyr2339Cys)	STAB1 (Y2339C)	Single nucleotide variant (missense variant)	Isolated hyperferritinemia	GAffects
Select item 3024153	NM_015136.3(STAB1):c.5612_5646delinsG (p.Ala1871fs)	STAB1 (A1871fs)	Indel (frameshift variant)	Isolated hyperferritinemia	GAffects
Select item 2653896	NM_015136.3(STAB1):c.6762C>T (p.Cys2254=)	STAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653895	NM_015136.3(STAB1):c.4712C>T (p.Thr1571Ile)	STAB1 (T1571I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653894	NM_015136.3(STAB1):c.3429C>T (p.Leu1143=)	STAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653893	NM_015136.3(STAB1):c.3429C>A (p.Leu1143=)	STAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653892	NM_015136.3(STAB1):c.3294C>T (p.Ser1098=)	STAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653891	NM_015136.3(STAB1):c.885G>A (p.Pro295=)	STAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653890	NM_015136.3(STAB1):c.584-5C>T	STAB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653889	NM_015136.3(STAB1):c.527G>A (p.Arg176His)	STAB1 (R176H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653888	NM_015136.3(STAB1):c.459C>T (p.Pro153=)	STAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621093	NM_015136.3(STAB1):c.1897G>A (p.Val633Met)	STAB1 (V633M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619493	NM_015136.3(STAB1):c.5729G>A (p.Arg1910His)	STAB1 (R1910H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617416	NM_015136.3(STAB1):c.7322T>C (p.Ile2441Thr)	STAB1 (I2441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602212	NM_015136.3(STAB1):c.3434G>A (p.Arg1145Gln)	STAB1 (R1145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601444	NM_015136.3(STAB1):c.4580G>A (p.Arg1527His)	STAB1 (R1527H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601323	NM_015136.3(STAB1):c.3146C>T (p.Pro1049Leu)	STAB1 (P1049L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597035	NM_015136.3(STAB1):c.4439G>A (p.Arg1480Gln)	STAB1 (R1480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595756	NM_015136.3(STAB1):c.3913C>T (p.Arg1305Trp)	STAB1 (R1305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594356	NM_015136.3(STAB1):c.7544C>T (p.Ala2515Val)	STAB1 (A2515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592944	NM_015136.3(STAB1):c.340G>A (p.Gly114Arg)	STAB1 (G114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590612	NM_015136.3(STAB1):c.5974A>G (p.Ser1992Gly)	STAB1 (S1992G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589785	NM_015136.3(STAB1):c.1415C>T (p.Thr472Met)	STAB1 (T472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568807	NM_015136.3(STAB1):c.1663C>T (p.Arg555Cys)	STAB1 (R555C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567438	NM_015136.3(STAB1):c.2978G>A (p.Arg993Gln)	STAB1 (R993Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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