ClinVar for Gene (Select 79143) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338643	Single allele	CNOT3, LENG1 +3 more	Deletion	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 3338607	NM_024298.5(MBOAT7):c.493+1G>T	MBOAT7	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 3293566	NM_024298.5(MBOAT7):c.105C>G (p.Ala35=)	MBOAT7 (R5G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3293565	NM_024298.5(MBOAT7):c.578G>A (p.Arg193His)	MBOAT7 (R120H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293564	NM_024298.5(MBOAT7):c.1010C>T (p.Pro337Leu)	MBOAT7 (P264L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293563	NM_024298.5(MBOAT7):c.159T>A (p.Ser53=)	MBOAT7 (S23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3293562	NM_024298.5(MBOAT7):c.162G>A (p.Leu54=)	MBOAT7 (G24S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3293561	NM_024298.5(MBOAT7):c.709G>A (p.Val237Ile)	MBOAT7 (V237I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257368	NM_024298.5(MBOAT7):c.540C>T (p.Pro180=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256992	NM_024298.5(MBOAT7):c.561C>T (p.Ser187=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242700	NC_000019.9:g.(?_54621659)_(54797848_?)dup	CNOT3, LENG1 +9 more	Duplication	not provided	GUncertain significance
Select item 3234445	NM_024298.5(MBOAT7):c.516C>G (p.Thr172=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233805	NM_024298.5(MBOAT7):c.1132C>T (p.Arg378Trp)	MBOAT7 (R305W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233519	NM_024298.5(MBOAT7):c.1A>G (p.Met1Val)	MBOAT7 (M1V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3124122	NM_024298.5(MBOAT7):c.941G>A (p.Arg314His)	MBOAT7 (R314H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124121	NM_024298.5(MBOAT7):c.935G>A (p.Arg312Gln)	MBOAT7 (R239Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124120	NM_024298.5(MBOAT7):c.728T>C (p.Met243Thr)	MBOAT7 (M170T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124119	NM_024298.5(MBOAT7):c.725G>A (p.Arg242His)	MBOAT7 (R242H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124118	NM_024298.5(MBOAT7):c.698A>G (p.Tyr233Cys)	MBOAT7 (Y233C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124117	NM_024298.5(MBOAT7):c.568C>T (p.Pro190Ser)	MBOAT7 (P117S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124116	NM_024298.5(MBOAT7):c.565C>T (p.Arg189Trp)	MBOAT7 (R189W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124115	NM_024298.5(MBOAT7):c.432C>T (p.Pro144=)	MBOAT7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3124114	NM_024298.5(MBOAT7):c.1408C>T (p.Arg470Trp)	MBOAT7 (R470W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124113	NM_024298.5(MBOAT7):c.1404G>T (p.Lys468Asn)	MBOAT7 (K468N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124112	NM_024298.5(MBOAT7):c.1403A>T (p.Lys468Met)	MBOAT7 (K468M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124111	NM_024298.5(MBOAT7):c.1402A>C (p.Lys468Gln)	MBOAT7 (K468Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124109	NM_024298.5(MBOAT7):c.130T>C (p.Phe44Leu)	MBOAT7 (V13A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124108	NM_024298.5(MBOAT7):c.1220A>G (p.Tyr407Cys)	MBOAT7 (Y334C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124107	NM_024298.5(MBOAT7):c.1216G>T (p.Ala406Ser)	MBOAT7 (A333S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055118	NM_024298.5(MBOAT7):c.854+7C>T	MBOAT7	Single nucleotide variant (intron variant)	MBOAT7-related disorder	GLikely benign
Select item 3053791	NM_024298.5(MBOAT7):c.655_736dup (p.Tyr246Ter)	MBOAT7 (Y173* +1 more)	Duplication (nonsense)	MBOAT7-related disorder	GLikely pathogenic
Select item 3050830	NM_024298.5(MBOAT7):c.795C>T (p.Pro265=)	MBOAT7	Single nucleotide variant (synonymous variant)	MBOAT7-related disorder	GLikely benign
Select item 3050314	NM_024298.5(MBOAT7):c.885C>T (p.Asp295=)	MBOAT7	Single nucleotide variant (synonymous variant)	MBOAT7-related disorder	GLikely benign
Select item 3046898	NM_024298.5(MBOAT7):c.120G>A (p.Gly40=)	MBOAT7 (A10T)	Single nucleotide variant (missense variant +1 more)	MBOAT7-related disorder	GLikely benign
Select item 3046798	NM_024298.5(MBOAT7):c.114C>T (p.Gly38=)	MBOAT7 (P8S)	Single nucleotide variant (missense variant +1 more)	MBOAT7-related disorder	GLikely benign
Select item 3043262	NM_024298.5(MBOAT7):c.494-3C>T	MBOAT7	Single nucleotide variant (intron variant)	MBOAT7-related disorder	GLikely benign
Select item 3036984	NM_024298.5(MBOAT7):c.943G>A (p.Asp315Asn)	MBOAT7 (D242N +1 more)	Single nucleotide variant (missense variant)	MBOAT7-related disorder	GUncertain significance
Select item 3026780	NM_024298.5(MBOAT7):c.967del (p.Thr323fs)	MBOAT7 (T250fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3026032	NM_024298.5(MBOAT7):c.654C>G (p.Arg218=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672793	GRCh37/hg19 19q13.42(chr19:54544215-54881884)x3	CNOT3, LAIR1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2650426	NM_024298.5(MBOAT7):c.571C>T (p.Leu191=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650425	NM_024298.5(MBOAT7):c.756C>T (p.Ala252=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650424	NM_024298.5(MBOAT7):c.843A>C (p.Pro281=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650423	NM_024298.5(MBOAT7):c.1350C>A (p.Gly450=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615465	NM_024298.5(MBOAT7):c.506G>A (p.Arg169His)	MBOAT7 (R169H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594731	NM_024298.5(MBOAT7):c.1006G>A (p.Ala336Thr)	MBOAT7 (A263T +1 more)	Single nucleotide variant (missense variant)	MBOAT7-related disorder +1 more	GUncertain significance
Select item 2583119	NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)	MBOAT7 (Y357* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 2578841	NM_024298.5(MBOAT7):c.1361G>A (p.Arg454Gln)	MBOAT7 (R381Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537997	NM_024298.5(MBOAT7):c.931G>A (p.Val311Met)	MBOAT7 (V311M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532108	NM_024298.5(MBOAT7):c.1214G>A (p.Arg405His)	MBOAT7 (R405H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531206	NM_024298.5(MBOAT7):c.857C>G (p.Pro286Arg)	MBOAT7 (P213R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526294	NM_024298.5(MBOAT7):c.1415A>G (p.Glu472Gly)	MBOAT7 (E472G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481495	NM_024298.5(MBOAT7):c.172C>A (p.Leu58Ile)	MBOAT7 (L58I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473893	NM_024298.5(MBOAT7):c.1006_1009dup (p.Pro337fs)	MBOAT7 (P264fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2467842	NM_024298.5(MBOAT7):c.812G>A (p.Arg271Gln)	MBOAT7 (R271Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461624	NM_024298.5(MBOAT7):c.661G>A (p.Ala221Thr)	MBOAT7 (A148T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409727	NM_024298.5(MBOAT7):c.797T>G (p.Val266Gly)	MBOAT7 (V193G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392286	NM_024298.5(MBOAT7):c.1030C>T (p.Arg344Trp)	MBOAT7 (R344W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386558	NM_024298.5(MBOAT7):c.718G>T (p.Ala240Ser)	MBOAT7 (A167S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379672	NM_024298.5(MBOAT7):c.953G>A (p.Arg318Gln)	MBOAT7 (R318Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373429	NM_024298.5(MBOAT7):c.754G>A (p.Ala252Thr)	MBOAT7 (A179T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373328	NM_024298.5(MBOAT7):c.1293C>A (p.Phe431Leu)	MBOAT7 (F358L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364408	NM_024298.5(MBOAT7):c.1363C>T (p.Arg455Trp)	MBOAT7 (R455W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345401	NM_024298.5(MBOAT7):c.1133G>A (p.Arg378Gln)	MBOAT7 (R378Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335042	NM_024298.5(MBOAT7):c.1165C>T (p.Pro389Ser)	MBOAT7 (P316S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334894	NM_024298.5(MBOAT7):c.907G>A (p.Asp303Asn)	MBOAT7 (D230N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320294	NM_024298.5(MBOAT7):c.395C>T (p.Ser132Leu)	MBOAT7 (S132L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318938	NM_024298.5(MBOAT7):c.932T>G (p.Val311Gly)	MBOAT7 (V238G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309912	NM_024298.5(MBOAT7):c.185C>T (p.Ala62Val)	MBOAT7 (A62V)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308403	NM_024298.5(MBOAT7):c.742G>A (p.Ala248Thr)	MBOAT7 (A175T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307148	NM_024298.5(MBOAT7):c.676_679dup (p.Leu227fs)	MBOAT7 (L227fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2294629	NM_024298.5(MBOAT7):c.929G>A (p.Cys310Tyr)	MBOAT7 (C237Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290276	NM_024298.5(MBOAT7):c.41T>A (p.Ile14Asn)	MBOAT7 (I14N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280336	NM_024298.5(MBOAT7):c.1372G>T (p.Ala458Ser)	MBOAT7 (A385S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276097	NM_024298.5(MBOAT7):c.286A>G (p.Thr96Ala)	MBOAT7 (T96A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249067	NM_024298.5(MBOAT7):c.1400A>G (p.Glu467Gly)	MBOAT7 (E394G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238859	NM_024298.5(MBOAT7):c.1325G>T (p.Gly442Val)	MBOAT7 (G369V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234280	NM_024298.5(MBOAT7):c.1243G>A (p.Val415Met)	MBOAT7 (V415M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231652	NM_024298.5(MBOAT7):c.807A>C (p.Lys269Asn)	MBOAT7 (K196N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212101	NM_024298.5(MBOAT7):c.761G>A (p.Cys254Tyr)	MBOAT7 (C254Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210299	NM_024298.5(MBOAT7):c.1016G>A (p.Arg339His)	MBOAT7 (R266H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879456	NM_024298.5(MBOAT7):c.849dup (p.Ser284fs)	MBOAT7 (S211fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1706446	NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)	MBOAT7 (G129R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1698185	NM_024298.5(MBOAT7):c.1116C>A (p.Cys372Ter)	MBOAT7 (C299* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1694943	NM_024298.5(MBOAT7):c.678G>A (p.Pro226=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675309	NM_024298.5(MBOAT7):c.971_985del (p.Val324_Leu328del)	MBOAT7	Deletion (inframe_deletion)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1675308	NM_024298.5(MBOAT7):c.497C>T (p.Pro166Leu)	MBOAT7 (P166L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG7, CACNG8 +51 more	Duplication	not provided	GUncertain significance
Select item 1333419	NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)	MBOAT7 (R198fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 1328055	NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys)	MBOAT7 (E180K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 1325569	NM_024298.5(MBOAT7):c.1361_1382del (p.Arg454fs)	MBOAT7 (R381fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1324698	NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)	MBOAT7 (P36L +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 1314381	NM_024298.5(MBOAT7):c.1322_1355dup (p.Ser453fs)	MBOAT7 (S380fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1306241	NM_024298.5(MBOAT7):c.1399dup (p.Glu467fs)	MBOAT7 (E394fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1285426	NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)	MBOAT7 (R87*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 57 +1 more	GConflicting classifications of pathogenicity
Select item 1262088	NM_024298.5(MBOAT7):c.1260C>T (p.Ala420=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1190073	NM_024298.5(MBOAT7):c.-1587C>G	MBOAT7, TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 57 +1 more	GLikely benign
Select item 1189642	NM_024298.5(MBOAT7):c.823G>A (p.Gly275Ser)	MBOAT7 (G202S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57 +1 more	GUncertain significance
Select item 1184283	NM_024298.5(MBOAT7):c.763G>A (p.Gly255Ser)	MBOAT7 (G182S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance

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