ClinVar for MedGen (Select 75728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243407	NC_000016.9:g.(?_11643493)_(11643621_?)dup	LITAF	Duplication	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 3003755	NM_001136472.2(LITAF):c.335G>A (p.Gly112Asp)	LITAF (G112D)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	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 2911356	NM_001136472.2(LITAF):c.112G>A (p.Ala38Thr)	LITAF (A38T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2904344	NM_001136472.2(LITAF):c.217C>T (p.Pro73Ser)	LITAF (P73S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
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 2885103	NM_001136472.2(LITAF):c.232A>G (p.Thr78Ala)	LITAF (T78A)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2870636	NM_001136472.2(LITAF):c.220+12del	LITAF	Deletion (intron variant)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 2870468	NM_001136472.2(LITAF):c.134C>T (p.Thr45Met)	LITAF (T45M)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2839120	NM_001136472.2(LITAF):c.241G>T (p.Val81Leu)	LITAF (V81L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2834080	NM_001136472.2(LITAF):c.351G>T (p.Leu117=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
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 2828654	NM_001136472.2(LITAF):c.215A>G (p.Asn72Ser)	LITAF (N72S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	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 2760396	NM_001136472.2(LITAF):c.285T>C (p.Cys95=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
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 2718295	NM_001136472.2(LITAF):c.378-22GT[2]	LITAF	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 2706974	NM_001136472.2(LITAF):c.271C>T (p.Pro91Ser)	LITAF (P91S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2703497	NM_001136472.2(LITAF):c.348G>C (p.Trp116Cys)	LITAF (W116C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2703327	NM_001136472.2(LITAF):c.100C>T (p.Pro34Ser)	LITAF (P34S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	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 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 2425236	NC_000016.9:g.(?_11647369)_(11647565_?)dup	LITAF	Duplication	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2194830	NM_001136472.2(LITAF):c.176C>G (p.Pro59Arg)	LITAF (P59R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	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 2157883	NM_001136472.2(LITAF):c.270C>T (p.Arg90=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 2141094	NM_001136472.2(LITAF):c.5C>T (p.Ser2Leu)	LITAF (S2L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2120487	NM_001136472.2(LITAF):c.149G>T (p.Gly50Val)	LITAF (G50V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 2117462	NM_001136472.2(LITAF):c.3G>T (p.Met1Ile)	LITAF (M1I)	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 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 2055073	NM_001136472.2(LITAF):c.358G>A (p.Gly120Arg)	LITAF (G120R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
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 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 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 1963051	NM_001136472.2(LITAF):c.56C>T (p.Ala19Val)	LITAF (A19V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1952157	NM_001136472.2(LITAF):c.284G>A (p.Cys95Tyr)	LITAF (C95Y)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1931753	NM_001136472.2(LITAF):c.129A>G (p.Pro43=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 1745340	NM_001136472.2(LITAF):c.50C>T (p.Pro17Leu)	LITAF (P17L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GConflicting classifications of pathogenicity
Select item 1718118	NM_001136472.2(LITAF):c.143T>C (p.Val48Ala)	LITAF (V48A)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1624841	NM_001136472.2(LITAF):c.12A>G (p.Pro4=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 1611411	NM_001136472.2(LITAF):c.99C>T (p.Tyr33=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 1611395	NM_001136472.2(LITAF):c.377+10C>T	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C	GLikely benign
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 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 1541434	NM_001136472.2(LITAF):c.364C>T (p.Leu122=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 1529385	NM_001136472.2(LITAF):c.102C>A (p.Pro34=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
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 1486153	NM_001136472.2(LITAF):c.332C>T (p.Ala111Val)	LITAF (A111V)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	CLEC16A, DEXI +20 more	Duplication	MHC class II deficiency +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 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 1411287	NC_000016.9:g.(?_11643493)_(11650586_?)del	LITAF	Deletion	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1405288	NM_001136472.2(LITAF):c.233C>T (p.Thr78Met)	LITAF (T78M)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 1386290	NM_001136472.2(LITAF):c.173C>T (p.Pro58Leu)	LITAF (P58L)	Single nucleotide variant (missense variant +1 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 1347883	NM_001136472.2(LITAF):c.182A>G (p.Tyr61Cys)	LITAF (Y61C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1309397	NM_001136472.2(LITAF):c.272C>G (p.Pro91Arg)	LITAF (P91R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 1127163	NM_001136472.2(LITAF):c.225C>T (p.Thr75=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
Select item 1125519	NM_001136472.2(LITAF):c.243G>A (p.Val81=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C	GLikely benign
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 1052564	NM_001136472.2(LITAF):c.46G>T (p.Ala16Ser)	LITAF (A16S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1043132	NM_001136472.2(LITAF):c.197C>T (p.Ala66Val)	LITAF (A66V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
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 1034788	NM_001136472.2(LITAF):c.168del (p.Met56fs)	LITAF (M56fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1025234	NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg)	LITAF (C95R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1024595	NC_000016.9:g.(?_11650347)_(11650606_?)del	LITAF	Deletion	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 970046	NM_001136472.2(LITAF):c.310G>T (p.Val104Leu)	LITAF (V104L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 968029	NM_001136472.2(LITAF):c.124G>T (p.Gly42Trp)	LITAF (G42W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 945669	NM_001136472.2(LITAF):c.26C>T (p.Ala9Val)	LITAF (A9V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 944854	NM_001136472.2(LITAF):c.157G>A (p.Gly53Arg)	LITAF (G53R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GConflicting classifications of pathogenicity
Select item 944155	NM_001136472.2(LITAF):c.55G>A (p.Ala19Thr)	LITAF (A19T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GConflicting classifications of pathogenicity
Select item 935915	NM_001136472.2(LITAF):c.220+4C>T	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 917349	NM_001136472.2(LITAF):c.221-16C>T	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C +1 more	GLikely benign
Select item 917348	NM_001136472.2(LITAF):c.377+3G>A	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C +1 more	GLikely benign
Select item 917347	NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser)	LITAF (P67S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 917116	NM_001136472.2(LITAF):c.269G>A (p.Arg90His)	LITAF (R90H)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 887967	NM_001136472.2(LITAF):c.-6+513G>C	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 887966	NM_001136472.2(LITAF):c.-6+618C>G	LITAF	Single nucleotide variant (intron variant)	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 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 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 885704	NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr)	LITAF (C123Y)	Single nucleotide variant (missense 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 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 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 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 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 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 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 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 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 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 872382	NM_001136472.2(LITAF):c.378-7C>T	LITAF	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1C +1 more	GConflicting classifications of pathogenicity
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 852191	NM_001136472.2(LITAF):c.374T>C (p.Leu125Pro)	LITAF (L125P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 851541	NM_001136472.2(LITAF):c.17C>T (p.Pro6Leu)	LITAF (P6L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 834975	NM_001136472.2(LITAF):c.172C>T (p.Pro58Ser)	LITAF (P58S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 830843	NC_000016.10:g.(?_11549637)_(11556730_?)dup	LITAF	Duplication	Charcot-Marie-Tooth disease type 1C	GUncertain significance

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