79143[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 149

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
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 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 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 1306241	NM_024298.5(MBOAT7):c.1399dup (p.Glu467fs)	MBOAT7 (E394fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
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 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 1033619	NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu)	MBOAT7 (K383E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57 +1 more	GUncertain significance
Select item 445662	NM_024298.5(MBOAT7):c.1364G>A (p.Arg455Gln)	MBOAT7 (R455Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 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 1314381	NM_024298.5(MBOAT7):c.1322_1355dup (p.Ser453fs)	MBOAT7 (S380fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2650423	NM_024298.5(MBOAT7):c.1350C>A (p.Gly450=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808651	NM_024298.5(MBOAT7):c.1325GGCTGG[3] (p.442GL[3])	MBOAT7	Microsatellite (inframe_insertion)	not provided	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 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 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 1262088	NM_024298.5(MBOAT7):c.1260C>T (p.Ala420=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1033618	NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr)	MBOAT7 (M337T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	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 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 1028297	NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro)	MBOAT7 (H326P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	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 548624	NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln)	MBOAT7 (R384Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 812079	NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)	MBOAT7 (L306fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
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 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 546854	NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys)	MBOAT7 (E376K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 812082	NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)	MBOAT7 (Y281* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 808652	NM_024298.5(MBOAT7):c.1037C>T (p.Ala346Val)	MBOAT7 (A346V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028295	NM_024298.5(MBOAT7):c.1031+17A>G	MBOAT7	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1028296	NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln)	MBOAT7 (R344Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57 +1 more	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 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 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 2473893	NM_024298.5(MBOAT7):c.1006_1009dup (p.Pro337fs)	MBOAT7 (P264fs +1 more)	Duplication (frameshift 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 808653	NM_024298.5(MBOAT7):c.989A>G (p.Gln330Arg)	MBOAT7 (Q257R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1028299	NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met)	MBOAT7 (T250M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	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 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 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 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 1033623	NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu)	MBOAT7 (V313L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	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 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 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 932558	NM_024298.5(MBOAT7):c.930C>T (p.Cys310=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3050314	NM_024298.5(MBOAT7):c.885C>T (p.Asp295=)	MBOAT7	Single nucleotide variant (synonymous variant)	MBOAT7-related disorder	GLikely benign
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 986127	NM_024298.5(MBOAT7):c.855-2A>G	MBOAT7	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1033622	NM_024298.5(MBOAT7):c.854+8G>A	MBOAT7	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 57	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 268114	NM_024298.5(MBOAT7):c.854+1G>C	MBOAT7	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 1879456	NM_024298.5(MBOAT7):c.849dup (p.Ser284fs)	MBOAT7 (S211fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1028298	NM_024298.5(MBOAT7):c.849C>G (p.Pro283=)	MBOAT7	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 1033621	NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala)	MBOAT7 (P210A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 57	GUncertain significance
Select item 2650424	NM_024298.5(MBOAT7):c.843A>C (p.Pro281=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 268115	NM_024298.5(MBOAT7):c.820_826del (p.Gly274fs)	MBOAT7 (G201fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 57	GPathogenic
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 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 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 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 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 3050830	NM_024298.5(MBOAT7):c.795C>T (p.Pro265=)	MBOAT7	Single nucleotide variant (synonymous variant)	MBOAT7-related disorder	GLikely benign
Select item 268112	NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)	MBOAT7	Deletion (inframe_deletion)	Intellectual disability, autosomal recessive 57 +2 more	GPathogenic
Select item 817917	NM_024298.5(MBOAT7):c.757_769del (p.Glu253fs)	MBOAT7 (E180fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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
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 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 2650425	NM_024298.5(MBOAT7):c.756C>T (p.Ala252=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3053791	NM_024298.5(MBOAT7):c.655_736dup (p.Tyr246Ter)	MBOAT7 (Y173* +1 more)	Duplication (nonsense)	MBOAT7-related disorder	GLikely pathogenic
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 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 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 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 1120120	NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)	MBOAT7 (L158fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 57	GPathogenic/Likely pathogenic
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 1694943	NM_024298.5(MBOAT7):c.678G>A (p.Pro226=)	MBOAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

<< First< Prev

Page of 2