"Ambry Genetics"[submitter] AND "RAB33A"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136325	NM_004208.4(AIFM1):c.1833T>C (p.His611=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +8 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 559295	NM_004208.4(AIFM1):c.1719C>G (p.Val573=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2941138	NM_004208.4(AIFM1):c.1688G>C (p.Gly563Ala)	AIFM1, RAB33A (G224A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1777791	NM_004208.4(AIFM1):c.1676A>G (p.Asp559Gly)	AIFM1, RAB33A (D559G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1357142	NM_004208.4(AIFM1):c.1663G>A (p.Val555Ile)	AIFM1, RAB33A (V555I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 367889	NM_004208.4(AIFM1):c.1647A>G (p.Ala549=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 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 411665	NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu)	AIFM1, RAB33A (P548L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 543930	NM_004208.4(AIFM1):c.1609G>A (p.Glu537Lys)	AIFM1, RAB33A (E537K +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GBenign/Likely benign
Select item 511479	NM_004208.4(AIFM1):c.1543G>A (p.Asp515Asn)	AIFM1, RAB33A (D515N +2 more)	Single nucleotide variant (missense variant +2 more)	AIFM1-related condition +4 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)	not provided +3 more	GUncertain significance
Select item 514447	NM_004208.4(AIFM1):c.1479A>G (p.Glu493=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +3 more	GLikely benign
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 1390581	NM_004208.4(AIFM1):c.1449-5_1449-3del	AIFM1, RAB33A	Microsatellite (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1772828	NM_004208.4(AIFM1):c.1448+5T>C	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	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 1771967	NM_004208.4(AIFM1):c.1409C>G (p.Thr470Ser)	RAB33A, AIFM1 (T131S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 912874	NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala)	AIFM1, RAB33A (V113A +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +3 more	GUncertain significance
Select item 136323	NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +7 more	GBenign/Likely benign
Select item 3102540	NM_004208.4(AIFM1):c.1315G>A (p.Ala439Thr)	AIFM1, RAB33A (A439T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 543932	NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +7 more	GBenign/Likely benign
Select item 1302559	NM_004208.4(AIFM1):c.1156G>A (p.Gly386Ser)	AIFM1, RAB33A (G382S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 543931	NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile)	AIFM1, RAB33A (V372I +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +3 more	GUncertain significance
Select item 162486	NM_004208.4(AIFM1):c.1113C>T (p.Ser371=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +3 more	GLikely benign
Select item 640384	NM_004208.4(AIFM1):c.1075+4G>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 214080	NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +6 more	GBenign/Likely benign
Select item 958283	NM_004208.4(AIFM1):c.1045A>G (p.Ser349Gly)	AIFM1, RAB33A (S349G +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GConflicting classifications of pathogenicity
Select item 518002	NM_004208.4(AIFM1):c.1036G>A (p.Glu346Lys)	AIFM1, RAB33A (E346K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2937443	NM_004208.4(AIFM1):c.986A>G (p.Glu329Gly)	AIFM1, RAB33A (E329G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 516100	NM_004208.4(AIFM1):c.948C>A (p.Ala316=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 813285	NM_004208.4(AIFM1):c.911C>T (p.Thr304Met)	AIFM1, RAB33A (T300M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 477608	NM_004208.4(AIFM1):c.801G>A (p.Leu267=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 836326	NM_004208.4(AIFM1):c.724A>G (p.Met242Val)	RAB33A, AIFM1 (M238V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +2 more	GConflicting classifications of pathogenicity
Select item 598756	NM_004208.4(AIFM1):c.720C>T (p.Asp240=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2317764	NM_004208.4(AIFM1):c.658A>G (p.Ile220Val)	AIFM1, RAB33A (I220V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 427033	NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys)	RAB33A, AIFM1 (R201K +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 477607	NM_004208.4(AIFM1):c.597A>C (p.Lys199Asn)	AIFM1, RAB33A (K199N +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GLikely benign
Select item 1749272	NM_004208.4(AIFM1):c.571C>G (p.Leu191Val)	AIFM1, RAB33A (L187V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1746742	NM_004208.4(AIFM1):c.530A>G (p.Lys177Arg)	AIFM1, RAB33A (K173R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478983	NM_004208.4(AIFM1):c.406C>A (p.Leu136Ile)	AIFM1, RAB33A (L132I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 647178	NM_004208.4(AIFM1):c.350C>T (p.Ala117Val)	AIFM1, RAB33A (A113V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 639720	NM_004208.4(AIFM1):c.341C>T (p.Ala114Val)	AIFM1, RAB33A (A110V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +3 more	GBenign/Likely benign
Select item 857026	NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr)	AIFM1, RAB33A (A110T +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +3 more	GConflicting classifications of pathogenicity
Select item 543933	NM_004208.4(AIFM1):c.339C>T (p.Ala113=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GLikely benign
Select item 239688	NM_004208.4(AIFM1):c.287A>G (p.Asn96Ser)	AIFM1, RAB33A (N96S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 789869	NM_004208.4(AIFM1):c.274G>A (p.Glu92Lys)	AIFM1, RAB33A (E92K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 916947	NM_004208.4(AIFM1):c.249+1258T>C	AIFM1, RAB33A (Y64H)	Single nucleotide variant (missense variant +1 more)	AIFM1-related condition +2 more	GLikely benign
Select item 520724	NM_004208.4(AIFM1):c.249+1226G>C	AIFM1, RAB33A (G53A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276054	NM_004208.4(AIFM1):c.249+1202C>A	AIFM1, RAB33A (P45H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 643584	NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr)	AIFM1, RAB33A (A80T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 445310	NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)	AIFM1, RAB33A (S57C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +6 more	GConflicting classifications of pathogenicity
Select item 660192	NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp)	RAB33A, AIFM1 (E47D)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +4 more	GConflicting classifications of pathogenicity
Select item 214085	NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg)	RAB33A, AIFM1 (P45R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2540286	NM_004208.4(AIFM1):c.122G>A (p.Arg41Gln)	AIFM1, RAB33A (R41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 512658	NM_004208.4(AIFM1):c.54C>G (p.Pro18=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2559522	NM_004794.3(RAB33A):c.8A>C (p.Gln3Pro)	RAB33A (Q3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286649	NM_004794.3(RAB33A):c.37C>T (p.Pro13Ser)	RAB33A (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568678	NM_004794.3(RAB33A):c.323G>A (p.Arg108His)	RAB33A (R108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150676	NM_004794.3(RAB33A):c.407A>G (p.Asn136Ser)	RAB33A (N136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150677	NM_004794.3(RAB33A):c.658G>T (p.Val220Leu)	RAB33A (V220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608220	NM_004794.3(RAB33A):c.686C>A (p.Ala229Asp)	RAB33A (A229D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 62