"GeneDx"[submitter] AND "RAB33A"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 156

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58669	GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2	AIFM1, APLN +127 more	Copy number gain	See cases	GPathogenic
Select item 1197495	NM_004208.4(AIFM1):c.*160A>G	AIFM1, RAB33A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 136325	NM_004208.4(AIFM1):c.1833T>C (p.His611=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +9 more	GBenign/Likely benign
Select item 515891	NM_004208.4(AIFM1):c.1794T>C (p.His598=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GLikely benign
Select item 682548	NM_004208.4(AIFM1):c.1771-9C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216339	NM_004208.4(AIFM1):c.1770+146G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3371877	NM_004208.4(AIFM1):c.1720G>T (p.Val574Leu)	AIFM1, RAB33A (V235L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 373913	NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)	RAB33A, AIFM1 (A549V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377456	NM_004208.4(AIFM1):c.1644G>A (p.Pro548=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 214081	NM_004208.4(AIFM1):c.1642C>T (p.Pro548Ser)	RAB33A, AIFM1 (P548S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1707864	NM_004208.4(AIFM1):c.1636A>G (p.Ser546Gly)	AIFM1, RAB33A (S207G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 372555	NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys)	AIFM1, RAB33A (E533K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 1304652	NM_004208.4(AIFM1):c.1592A>T (p.Glu531Val)	RAB33A, AIFM1 (E192V +2 more)	Single nucleotide variant (missense variant +2 more)	AIFM1-related disorder +3 more	GUncertain significance
Select item 452014	NM_004208.4(AIFM1):c.1574G>A (p.Gly525Glu)	AIFM1, RAB33A (G525E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 683838	NM_004208.4(AIFM1):c.1573+256T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511479	NM_004208.4(AIFM1):c.1543G>A (p.Asp515Asn)	AIFM1, RAB33A (D515N +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +3 more	GLikely benign
Select item 2430404	NM_004208.4(AIFM1):c.1534A>G (p.Thr512Ala)	AIFM1, RAB33A (T173A +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +3 more	GUncertain significance
Select item 1309478	NM_004208.4(AIFM1):c.1506G>T (p.Leu502Phe)	AIFM1, RAB33A (L163F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 411664	NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys)	AIFM1, RAB33A (S501C +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GUncertain significance
Select item 1481915	NM_004208.4(AIFM1):c.1495G>T (p.Asp499Tyr)	AIFM1, RAB33A (D160Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 968520	NM_004208.4(AIFM1):c.1483A>G (p.Ile495Val)	AIFM1, RAB33A (I491V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 514447	NM_004208.4(AIFM1):c.1479A>G (p.Glu493=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GLikely benign
Select item 3365583	NM_004208.4(AIFM1):c.1465G>C (p.Asp489His)	AIFM1, RAB33A (D150H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 938979	NM_004208.4(AIFM1):c.1465G>A (p.Asp489Asn)	AIFM1, RAB33A (D150N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GUncertain significance
Select item 1292077	NM_004208.4(AIFM1):c.1458G>A (p.Leu486=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GBenign/Likely benign
Select item 1187212	NM_004208.4(AIFM1):c.1449-60A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206434	NM_004208.4(AIFM1):c.1448+215A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187791	NM_004208.4(AIFM1):c.1448+149C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1307248	NM_004208.4(AIFM1):c.1435C>G (p.Gln479Glu)	AIFM1, RAB33A (Q140E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 136324	NM_004208.4(AIFM1):c.1416T>C (p.Ala472=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 243069	NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)	AIFM1, RAB33A (R459I +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease X-linked recessive 4 +3 more	GConflicting classifications of pathogenicity
Select item 218108	NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)	AIFM1, RAB33A (R451Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2428913	NM_004208.4(AIFM1):c.1343G>A (p.Gly448Glu)	RAB33A, AIFM1 (G109E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 136323	NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	not provided +6 more	GBenign/Likely benign
Select item 1245015	NM_004208.4(AIFM1):c.1306-176del	AIFM1, RAB33A	Deletion (intron variant)	not provided	GBenign
Select item 677968	NM_004208.4(AIFM1):c.1305+240C>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279426	NM_004208.4(AIFM1):c.1305+40C>T	RAB33A, AIFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162479	NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1, RAB33A (R422W +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1309249	NM_004208.4(AIFM1):c.1240A>G (p.Ile414Val)	AIFM1, RAB33A (I410V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3253355	NM_004208.4(AIFM1):c.1232G>C (p.Gly411Ala)	AIFM1, RAB33A (G407A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 543932	NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +7 more	GBenign/Likely benign
Select item 2507156	NM_004208.4(AIFM1):c.1208A>T (p.Asn403Ile)	AIFM1, RAB33A (N399I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 430466	NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)	RAB33A, AIFM1 (P402T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 214083	NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly)	RAB33A, AIFM1 (V395G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1314730	NM_004208.4(AIFM1):c.1183G>C (p.Val395Leu)	AIFM1, RAB33A (V391L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2098286	NM_004208.4(AIFM1):c.1181T>C (p.Ile394Thr)	AIFM1, RAB33A (I55T +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GUncertain significance
Select item 1706681	NM_004208.4(AIFM1):c.1171A>G (p.Thr391Ala)	RAB33A, AIFM1 (T387A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1302559	NM_004208.4(AIFM1):c.1156G>A (p.Gly386Ser)	AIFM1, RAB33A (G382S +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +3 more	GUncertain significance
Select item 383941	NM_004208.4(AIFM1):c.1120G>A (p.Val374Ile)	AIFM1, RAB33A (V374I +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GUncertain significance
Select item 162486	NM_004208.4(AIFM1):c.1113C>T (p.Ser371=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +3 more	GLikely benign
Select item 452403	NM_004208.4(AIFM1):c.1090A>G (p.Met364Val)	AIFM1, RAB33A (M364V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1303233	NM_004208.4(AIFM1):c.1087G>T (p.Val363Leu)	AIFM1, RAB33A (V24L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 576371	NM_004208.4(AIFM1):c.1081G>A (p.Val361Ile)	AIFM1, RAB33A (V361I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1201993	NM_004208.4(AIFM1):c.1076-118A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185741	NM_004208.4(AIFM1):c.1075+170C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382781	NM_004208.4(AIFM1):c.1075+20A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +2 more	GBenign/Likely benign
Select item 2443662	NM_004208.4(AIFM1):c.1061A>C (p.Glu354Ala)	AIFM1, RAB33A (E15A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214080	NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +6 more	GBenign/Likely benign
Select item 518002	NM_004208.4(AIFM1):c.1036G>A (p.Glu346Lys)	AIFM1, RAB33A (E346K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 162477	NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)	AIFM1, RAB33A (L344F +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GConflicting classifications of pathogenicity
Select item 1306224	NM_004208.4(AIFM1):c.1029C>G (p.Ile343Met)	AIFM1, RAB33A (I339M +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GUncertain significance
Select item 2136048	NM_004208.4(AIFM1):c.1020G>T (p.Met340Ile)	AIFM1, RAB33A (M1I +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 641733	NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys)	RAB33A, AIFM1 (E336K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1800540	NM_004208.4(AIFM1):c.1001T>A (p.Phe334Tyr)	AIFM1, RAB33A (F330Y +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 136322	NM_004208.4(AIFM1):c.996A>G (p.Gln332=)	RAB33A, AIFM1	Single nucleotide variant (5 prime UTR variant +3 more)	Severe X-linked mitochondrial encephalomyopathy +5 more	GBenign
Select item 1219047	NM_004208.4(AIFM1):c.968-161C>T	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 136321	NM_004208.4(AIFM1):c.968-358C>T	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1191343	NM_004208.4(AIFM1):c.968-638C>T	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1191420	NM_004208.4(AIFM1):c.967+548T>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199156	NM_004208.4(AIFM1):c.967+530del	AIFM1, RAB33A	Deletion (intron variant)	not provided	GLikely benign
Select item 1197356	NM_004208.4(AIFM1):c.967+326T>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208989	NM_004208.4(AIFM1):c.967+325C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223451	NM_004208.4(AIFM1):c.967+317A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211642	NM_004208.4(AIFM1):c.967+300T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195334	NM_004208.4(AIFM1):c.967+133T>C	RAB33A, AIFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675511	NM_004208.4(AIFM1):c.967+127T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200822	NM_004208.4(AIFM1):c.967+119A>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675484	NM_004208.4(AIFM1):c.967+48G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516100	NM_004208.4(AIFM1):c.948C>A (p.Ala316=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3372124	NM_004208.4(AIFM1):c.925G>A (p.Gly309Ser)	AIFM1, RAB33A (G305S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 136320	NM_004208.4(AIFM1):c.918C>T (p.Ile306=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 1307426	NM_004208.4(AIFM1):c.910A>T (p.Thr304Ser)	AIFM1, RAB33A (T300S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 655000	NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)	AIFM1, RAB33A (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	Deafness, X-linked 5 +3 more	GConflicting classifications of pathogenicity
Select item 1197521	NM_004208.4(AIFM1):c.859-146C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311967	NM_004208.4(AIFM1):c.808A>G (p.Ile270Val)	AIFM1, RAB33A (I266V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579437	NM_004208.4(AIFM1):c.790C>G (p.Pro264Ala)	AIFM1, RAB33A (P260A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 506999	NM_004208.4(AIFM1):c.782-4C>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +2 more	GLikely benign
Select item 678375	NM_004208.4(AIFM1):c.782-124C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190642	NM_004208.4(AIFM1):c.781+202C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206680	NM_004208.4(AIFM1):c.781+85A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449839	NM_004208.4(AIFM1):c.710A>T (p.Asp237Val)	AIFM1, RAB33A (D237V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1187952	NM_004208.4(AIFM1):c.697-192G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379106	NM_004208.4(AIFM1):c.696+16G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +2 more	GLikely benign
Select item 2504354	NM_004208.4(AIFM1):c.673G>A (p.Val225Met)	AIFM1, RAB33A (V221M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 651317	NM_004208.4(AIFM1):c.646G>A (p.Asp216Asn)	AIFM1, RAB33A (D216N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 367890	NM_004208.4(AIFM1):c.606-15C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Bieganski type +8 more	GBenign
Select item 1201088	NM_004208.4(AIFM1):c.606-100C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271354	NM_004208.4(AIFM1):c.606-104G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2