LITAF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 884699	NM_001136472.2(LITAF):c.*1879A>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317751	NM_001136472.2(LITAF):c.*1870C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 317752	NM_001136472.2(LITAF):c.*1853A>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 884700	NM_001136472.2(LITAF):c.*1632C>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317753	NM_001136472.2(LITAF):c.*1627G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317754	NM_001136472.2(LITAF):c.*1557C>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317755	NM_001136472.2(LITAF):c.*1493T>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 884701	NM_001136472.2(LITAF):c.*1436T>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 884702	NM_001136472.2(LITAF):c.*1422A>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317756	NM_001136472.2(LITAF):c.*1415C>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 885639	NM_001136472.2(LITAF):c.*1399C>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 885640	NM_001136472.2(LITAF):c.*1386G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 885641	NM_001136472.2(LITAF):c.*1364A>C	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317757	NM_001136472.2(LITAF):c.*1251A>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 885642	NM_001136472.2(LITAF):c.*1217A>C	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317758	NM_001136472.2(LITAF):c.*1170A>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 885643	NM_001136472.2(LITAF):c.*1054A>C	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317759	NM_001136472.2(LITAF):c.*949A>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317760	NM_001136472.2(LITAF):c.*933C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317761	NM_001136472.2(LITAF):c.*904G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317762	NM_001136472.2(LITAF):c.*882G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317763	NM_001136472.2(LITAF):c.*816dup	LITAF	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 317764	NM_001136472.2(LITAF):c.*816T>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317765	NM_001136472.2(LITAF):c.*796T>C	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317766	NM_001136472.2(LITAF):c.*723A>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317767	NM_001136472.2(LITAF):c.*711G>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317768	NM_001136472.2(LITAF):c.*686C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 317769	NM_001136472.2(LITAF):c.*598G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317770	NM_001136472.2(LITAF):c.*582dup	LITAF	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I	GBenign
Select item 887905	NM_001136472.2(LITAF):c.*563A>C	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 887906	NM_001136472.2(LITAF):c.*500A>G	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317771	NM_001136472.2(LITAF):c.*453C>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317772	NM_001136472.2(LITAF):c.*439G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317773	NM_001136472.2(LITAF):c.*421C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GBenign
Select item 317774	NM_001136472.2(LITAF):c.*294A>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 887907	NM_001136472.2(LITAF):c.*234C>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317775	NM_001136472.2(LITAF):c.*193G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1063503	NM_001136472.2(LITAF):c.*185T>C	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 317776	NM_001136472.2(LITAF):c.*143C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GBenign
Select item 694874	NM_001136472.2(LITAF):c.*138G>C	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Distal spinal muscular atrophy	GUncertain significance
Select item 694875	NM_001136472.2(LITAF):c.*116C>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Distal spinal muscular atrophy	GUncertain significance
Select item 317777	NM_001136472.2(LITAF):c.*99C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 317778	NM_001136472.2(LITAF):c.*68G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 694876	NM_001136472.2(LITAF):c.*48C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 317779	NM_001136472.2(LITAF):c.*37G>C	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 884759	NM_001136472.2(LITAF):c.*33G>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 694877	NM_001136472.2(LITAF):c.*24C>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 584169	NC_000016.9:g.(?_11643473)_(11650606_?)dup	LITAF	Duplication	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2428156	NM_001136472.2(LITAF):c.483G>C (p.Leu161Phe)	LITAF (L161F)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1606841	NM_001136472.2(LITAF):c.481T>C (p.Leu161=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 221090	NM_001136472.2(LITAF):c.479G>A (p.Arg160His)	LITAF (R160H)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C +4 more	GUncertain significance
Select item 245638	NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys)	LITAF (R160C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 637892	NM_001136472.2(LITAF):c.477G>A (p.Lys159=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GConflicting classifications of pathogenicity
Select item 1038405	NM_001136472.2(LITAF):c.473A>G (p.Tyr158Cys)	LITAF (Y158C)	Single nucleotide variant (3 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2828804	NM_001136472.2(LITAF):c.470C>G (p.Thr157Ser)	LITAF (T157S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 650636	NM_001136472.2(LITAF):c.468C>T (p.Gly156=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1810557	NM_001136472.2(LITAF):c.463C>T (p.Leu155=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2764275	NM_001136472.2(LITAF):c.458C>T (p.Ala153Val)	LITAF (A153V)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 404112	NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr)	LITAF (A153T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2163831	NM_001136472.2(LITAF):c.450C>G (p.Asn150Lys)	LITAF (N150K)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2005204	NM_001136472.2(LITAF):c.450C>A (p.Asn150Lys)	LITAF (N150K)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2726567	NM_001136472.2(LITAF):c.449A>G (p.Asn150Ser)	LITAF (N150S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1464988	NM_001136472.2(LITAF):c.448A>C (p.Asn150His)	LITAF (N150H)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 852504	NM_001136472.2(LITAF):c.430G>T (p.Val144Leu)	LITAF (V144L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 6061	NM_001136472.2(LITAF):c.430G>A (p.Val144Met)	LITAF (V144M)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2912264	NM_001136472.2(LITAF):c.429C>T (p.Asp143=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 546770	NM_001136472.2(LITAF):c.429C>A (p.Asp143Glu)	LITAF (D143E)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 656748	NM_001136472.2(LITAF):c.424C>T (p.Gln142Ter)	LITAF (Q142*)	Single nucleotide variant (nonsense +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1541883	NM_001136472.2(LITAF):c.420C>T (p.Ala140=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 694878	NM_001136472.2(LITAF):c.418G>C (p.Ala140Pro)	LITAF (A140P)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 576085	NM_001136472.2(LITAF):c.418G>A (p.Ala140Thr)	LITAF (A140T)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 2889458	NM_001136472.2(LITAF):c.415G>C (p.Asp139His)	LITAF (D139H)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 640744	NM_001136472.2(LITAF):c.412G>A (p.Val138Met)	LITAF (V138M)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C +2 more	GConflicting classifications of pathogenicity
Select item 701778	NM_001136472.2(LITAF):c.411C>T (p.Cys137=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 582795	NM_001136472.2(LITAF):c.410G>A (p.Cys137Tyr)	LITAF (C137Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1470260	NM_001136472.2(LITAF):c.409T>G (p.Cys137Gly)	LITAF (C137G)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 954546	NM_001136472.2(LITAF):c.409T>C (p.Cys137Arg)	LITAF (C137R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 392274	NM_001136472.2(LITAF):c.408C>A (p.Phe136Leu)	LITAF (F136L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1487692	NM_001136472.2(LITAF):c.407T>C (p.Phe136Ser)	LITAF (F136S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 664834	NM_001136472.2(LITAF):c.404C>T (p.Pro135Leu)	LITAF (P135L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 208246	NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg)	LITAF (P135R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2502274	NM_001136472.2(LITAF):c.403C>G (p.Pro135Ala)	LITAF (P135A)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely pathogenic
Select item 41231	NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser)	LITAF (P135S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 41230	NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)	LITAF (P135T)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GPathogenic
Select item 755830	NM_001136472.2(LITAF):c.399C>T (p.Phe133=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 2044881	NM_001136472.2(LITAF):c.392G>A (p.Cys131Tyr)	LITAF (C131Y)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1355091	NM_001136472.2(LITAF):c.389G>C (p.Gly130Ala)	LITAF (G130A)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 546771	NM_001136472.2(LITAF):c.388G>T (p.Gly130Cys)	LITAF (G130C)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 246593	NM_001136472.2(LITAF):c.388G>A (p.Gly130Ser)	LITAF (G130S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2080157	NM_001136472.2(LITAF):c.387G>A (p.Ala129=)	LITAF	Single nucleotide variant (3 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 317780	NM_001136472.2(LITAF):c.386C>T (p.Ala129Val)	LITAF (A129V)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 208245	NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr)	LITAF (A129T)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2116723	NM_001136472.2(LITAF):c.382A>G (p.Ile128Val)	LITAF (I128V)	Single nucleotide variant (3 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1986295	NM_001136472.2(LITAF):c.381C>T (p.Cys127=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 807994	NM_001136472.2(LITAF):c.380G>A (p.Cys127Tyr)	LITAF (C127Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 571959	NM_001136472.2(LITAF):c.378-3C>T	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C	GUncertain significance

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