ClinVar for Gene (Select 57534) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338302	NM_020774.4(MIB1):c.2665+1G>A	MIB1	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3337285	NM_020774.4(MIB1):c.908G>C (p.Arg303Thr)	MIB1 (R303T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337284	NM_020774.4(MIB1):c.40del (p.Val14fs)	MIB1 (V14fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3294714	NM_020774.4(MIB1):c.1080A>C (p.Glu360Asp)	MIB1 (E360D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294713	NM_020774.4(MIB1):c.941C>T (p.Ala314Val)	MIB1 (A314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294712	NM_020774.4(MIB1):c.2720G>C (p.Arg907Thr)	MIB1 (R907T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294711	NM_020774.4(MIB1):c.390G>C (p.Pro130=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3294710	NM_020774.4(MIB1):c.385A>G (p.Thr129Ala)	MIB1 (T129A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294709	NM_020774.4(MIB1):c.934A>C (p.Thr312Pro)	MIB1 (T312P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294707	NM_020774.4(MIB1):c.1124T>C (p.Ile375Thr)	MIB1 (I375T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294706	NM_020774.4(MIB1):c.2484T>G (p.Asp828Glu)	MIB1 (D828E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294705	NM_020774.4(MIB1):c.252G>A (p.Met84Ile)	MIB1 (M84I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294704	NM_020774.4(MIB1):c.863T>C (p.Ile288Thr)	MIB1 (I288T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294703	NM_020774.4(MIB1):c.1975C>G (p.Leu659Val)	MIB1 (L659V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294702	NM_020774.4(MIB1):c.109G>T (p.Gly37Cys)	MIB1 (G37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294701	NM_020774.4(MIB1):c.2917A>T (p.Met973Leu)	MIB1 (M973L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294700	NM_020774.4(MIB1):c.1965T>C (p.Gly655=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3294699	NM_020774.4(MIB1):c.46G>T (p.Ala16Ser)	MIB1 (A16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294698	NM_020774.4(MIB1):c.1003G>A (p.Val335Met)	MIB1 (V335M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294697	NM_020774.4(MIB1):c.1281A>G (p.Glu427=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3294696	NM_020774.4(MIB1):c.719A>G (p.Asn240Ser)	MIB1 (N240S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294695	NM_020774.4(MIB1):c.2774A>G (p.Asp925Gly)	MIB1 (D925G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294694	NM_020774.4(MIB1):c.1160G>T (p.Gly387Val)	MIB1 (G387V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294693	NM_020774.4(MIB1):c.2347C>T (p.Pro783Ser)	MIB1 (P783S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294692	NM_020774.4(MIB1):c.2414G>A (p.Ser805Asn)	MIB1 (S805N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294691	NM_020774.4(MIB1):c.1097T>C (p.Leu366Ser)	MIB1 (L366S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294690	NM_020774.4(MIB1):c.2362G>T (p.Ala788Ser)	MIB1 (A788S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253570	NM_020774.4(MIB1):c.368G>A (p.Arg123His)	MIB1 (R123H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252736	NM_020774.4(MIB1):c.896C>A (p.Pro299Gln)	MIB1 (P299Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235838	NM_020774.4(MIB1):c.1922T>G (p.Leu641Arg)	MIB1 (L641R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3227432	NM_020774.4(MIB1):c.960A>G (p.Gly320=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227431	NM_020774.4(MIB1):c.93C>T (p.Gly31=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227430	NM_020774.4(MIB1):c.745G>A (p.Gly249Ser)	MIB1 (G249S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227429	NM_020774.4(MIB1):c.573C>T (p.Ser191=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227428	NM_020774.4(MIB1):c.390G>A (p.Pro130=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227427	NM_020774.4(MIB1):c.330A>G (p.Thr110=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227425	NM_020774.4(MIB1):c.2926C>T (p.Leu976Phe)	MIB1 (L976F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227424	NM_020774.4(MIB1):c.2897G>A (p.Cys966Tyr)	MIB1 (C966Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227423	NM_020774.4(MIB1):c.2793T>C (p.Ile931=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227422	NM_020774.4(MIB1):c.2757A>G (p.Ser919=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227421	NM_020774.4(MIB1):c.2731A>G (p.Ile911Val)	MIB1 (I911V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227420	NM_020774.4(MIB1):c.2673T>G (p.Ala891=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227419	NM_020774.4(MIB1):c.2509A>G (p.Ile837Val)	MIB1 (I837V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227418	NM_020774.4(MIB1):c.2389G>A (p.Val797Ile)	MIB1 (V797I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227417	NM_020774.4(MIB1):c.2349G>A (p.Pro783=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227415	NM_020774.4(MIB1):c.2271T>C (p.Cys757=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227414	NM_020774.4(MIB1):c.217A>G (p.Ser73Gly)	MIB1 (S73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227413	NM_020774.4(MIB1):c.2100T>G (p.Asp700Glu)	MIB1 (D700E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227412	NM_020774.4(MIB1):c.1928A>G (p.Asn643Ser)	MIB1 (N643S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227411	NM_020774.4(MIB1):c.1833A>C (p.Ala611=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227410	NM_020774.4(MIB1):c.1733T>C (p.Ile578Thr)	MIB1 (I578T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227409	NM_020774.4(MIB1):c.1728T>C (p.Asp576=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227408	NM_020774.4(MIB1):c.1695C>T (p.Thr565=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227407	NM_020774.4(MIB1):c.1647A>G (p.Leu549=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227406	NM_020774.4(MIB1):c.1550A>C (p.His517Pro)	MIB1 (H517P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227405	NM_020774.4(MIB1):c.1544T>C (p.Val515Ala)	MIB1 (V515A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3227404	NM_020774.4(MIB1):c.1395C>T (p.His465=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227403	NM_020774.4(MIB1):c.1380G>A (p.Gly460=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227402	NM_020774.4(MIB1):c.1368G>A (p.Val456=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227401	NM_020774.4(MIB1):c.1335T>G (p.Ala445=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227400	NM_020774.4(MIB1):c.1226A>T (p.Asn409Ile)	MIB1 (N409I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126086	NM_020774.4(MIB1):c.920A>G (p.Asn307Ser)	MIB1 (N307S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126085	NM_020774.4(MIB1):c.631G>A (p.Gly211Ser)	MIB1 (G211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126083	NM_020774.4(MIB1):c.335G>A (p.Cys112Tyr)	MIB1 (C112Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126082	NM_020774.4(MIB1):c.2629C>G (p.Leu877Val)	MIB1 (L877V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126081	NM_020774.4(MIB1):c.1724G>A (p.Arg575His)	MIB1 (R575H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067834	NM_020774.4(MIB1):c.531+1G>A	MIB1	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3064992	NM_020774.4(MIB1):c.178del (p.Tyr60fs)	LOC130062255, MIB1 (Y60fs)	Deletion (frameshift variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3061227	NM_020774.4(MIB1):c.2586+1G>A	MIB1	Single nucleotide variant (splice donor variant)	MIB1-related disorder	GUncertain significance
Select item 3054366	NM_020774.4(MIB1):c.571dup (p.Ser191fs)	MIB1 (S191fs)	Duplication (frameshift variant)	MIB1-related disorder	GUncertain significance
Select item 3042924	NM_020774.4(MIB1):c.2589T>G (p.Ile863Met)	MIB1 (I863M)	Single nucleotide variant (missense variant)	MIB1-related disorder	GUncertain significance
Select item 3040734	NM_020774.4(MIB1):c.2586+9T>G	MIB1	Single nucleotide variant (intron variant)	MIB1-related disorder	GLikely benign
Select item 3029378	NM_020774.4(MIB1):c.2161dup (p.Met721fs)	MIB1 (M721fs)	Duplication (frameshift variant)	MIB1-related disorder	GUncertain significance
Select item 3027436	NM_020774.4(MIB1):c.2250_2259del (p.Lys750fs)	MIB1 (K750fs)	Deletion (frameshift variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 2875710	NM_020774.4(MIB1):c.2473A>G (p.Met825Val)	MIB1 (M825V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692328	NM_020774.4(MIB1):c.908+5G>A	MIB1	Single nucleotide variant (intron variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 2689427	NM_020774.4(MIB1):c.335G>T (p.Cys112Phe)	MIB1 (C112F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 2662422	NM_020774.4(MIB1):c.856T>C (p.Cys286Arg)	MIB1 (C286R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661960	NM_020774.4(MIB1):c.1372-10A>G	MIB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2648615	NM_020774.4(MIB1):c.1209A>G (p.Ala403=)	MIB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648614	NM_020774.4(MIB1):c.694C>T (p.Pro232Ser)	MIB1 (P232S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633962	NM_020774.4(MIB1):c.402-1G>A	MIB1	Single nucleotide variant (splice acceptor variant)	MIB1-related disorder	GUncertain significance
Select item 2633913	NM_020774.4(MIB1):c.2733_2735delinsA (p.Met912fs)	MIB1 (M912fs)	Indel (frameshift variant)	MIB1-related disorder	GUncertain significance
Select item 2633002	NM_020774.4(MIB1):c.627dup (p.Glu210Ter)	MIB1 (E210*)	Duplication (nonsense +1 more)	MIB1-related disorder	GUncertain significance
Select item 2631074	NM_020774.4(MIB1):c.584T>G (p.Val195Gly)	MIB1 (V195G)	Single nucleotide variant (missense variant)	MIB1-related disorder	GUncertain significance
Select item 2625756	NM_020774.4(MIB1):c.1899T>C (p.Tyr633=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2625755	NM_020774.4(MIB1):c.2403G>C (p.Val801=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2625754	NM_020774.4(MIB1):c.1531G>A (p.Ala511Thr)	MIB1 (A511T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2625753	NM_020774.4(MIB1):c.2568G>T (p.Gln856His)	MIB1 (Q856H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2625751	NM_020774.4(MIB1):c.2087A>G (p.Asp696Gly)	MIB1 (D696G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624440	NM_020774.4(MIB1):c.2787G>C (p.Gly929=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2624439	NM_020774.4(MIB1):c.1410T>C (p.Ala470=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2580775	NM_020774.4(MIB1):c.2587-12_2587-11del	MIB1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2577136	NM_020774.4(MIB1):c.229+7C>G	MIB1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2563678	NM_020774.4(MIB1):c.1471G>A (p.Glu491Lys)	MIB1 (E491K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563677	NM_020774.4(MIB1):c.2940A>G (p.Gly980=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2563676	NM_020774.4(MIB1):c.65C>T (p.Pro22Leu)	MIB1 (P22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563675	NM_020774.4(MIB1):c.2778C>T (p.Ile926=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2563674	NM_020774.4(MIB1):c.2438C>T (p.Ser813Phe)	MIB1 (S813F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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