"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RAB33A"[ge - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1143229	NM_004208.4(AIFM1):c.1713A>G (p.Lys571=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 2661428	NM_004208.4(AIFM1):c.1669G>A (p.Gly557Arg)	AIFM1, RAB33A (G218R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2661429	NM_004208.4(AIFM1):c.1602A>G (p.Thr534=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 162479	NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1, RAB33A (R422W +2 more)	Single nucleotide variant (missense variant +2 more)	AIFM1-related condition +5 more	GPathogenic/Likely pathogenic
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 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 374094	NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	AIFM1, RAB33A (M340T +2 more)	Single nucleotide variant (missense variant +3 more)	Combined oxidative phosphorylation deficiency +6 more	GPathogenic/Likely pathogenic
Select item 2661430	NM_004208.4(AIFM1):c.968-340A>G	AIFM1, RAB33A (D323G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 594797	NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr)	RAB33A, AIFM1 (A318T +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 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 547098	NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp)	AIFM1, RAB33A (N186D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2661431	NM_004208.4(AIFM1):c.458G>A (p.Arg153Gln)	AIFM1, RAB33A (R149Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2661432	NM_004208.4(AIFM1):c.192C>T (p.Ile64=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661433	NM_004208.4(AIFM1):c.184G>A (p.Gly62Ser)	AIFM1, RAB33A (G62S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661434	NM_004208.4(AIFM1):c.176C>T (p.Ala59Val)	AIFM1, RAB33A (A59V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 367894	NM_004208.4(AIFM1):c.72C>T (p.Cys24=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +4 more	GBenign/Likely benign
Select item 2661435	NM_004208.4(AIFM1):c.5T>A (p.Phe2Tyr)	AIFM1, LOC130068679 +1 more (F2Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 914371	NM_004208.4(AIFM1):c.-90G>C	AIFM1, LOC130068679 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367897	NM_004208.4(AIFM1):c.-185G>A	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic

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Items: 23