ClinVar for Gene (Select 9516) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360864	NM_001136472.2(LITAF):c.20A>G (p.Tyr7Cys)	LITAF (Y7C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339661	NM_001136472.2(LITAF):c.*52T>A	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3339030	NM_001136472.2(LITAF):c.*192C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3243407	NC_000016.9:g.(?_11643493)_(11643621_?)dup	LITAF	Duplication	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 3243332	NC_000016.9:g.(?_10971188)_(11650586_?)del	CIITA, CLEC16A +8 more	Deletion	MHC class II deficiency	GPathogenic
Select item 3234255	NM_001136472.2(LITAF):c.377+1747G>A	LITAF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3063411	GRCh37/hg19 16p13.13(chr16:11497040-11694753)x1	LITAF	Copy number loss	not specified	GUncertain significance
Select item 3057520	NM_001136472.2(LITAF):c.378-17TC[6]	LITAF	Microsatellite (intron variant)	LITAF-related disorder	GLikely benign
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 2685557	GRCh37/hg19 16p13.13-13.12(chr16:11444572-12722447)x1	BCAR4, GSPT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684785	GRCh37/hg19 16p13.13(chr16:11466110-12065032)x3	BCAR4, GSPT1 +6 more	Copy number gain	not provided	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 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	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 (missense 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 (synonymous 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 1810557	NM_001136472.2(LITAF):c.463C>T (p.Leu155=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
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 1708914	NM_001136472.2(LITAF):c.249C>A (p.His83Gln)	LITAF (H83Q)	Single nucleotide variant (missense variant +1 more)	not provided	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 1526503	GRCh37/hg19 16p13.13(chr16:11632852-11714575)	LITAF	Copy number loss	not specified	GLikely pathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1526424	NM_001136472.2(LITAF):c.232A>T (p.Thr78Ser)	LITAF (T78S)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
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 (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	ABAT, ATF7IP2 +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 1309498	NM_001136472.2(LITAF):c.98A>T (p.Tyr33Phe)	LITAF (Y33F)	Single nucleotide variant (missense variant +1 more)	not provided	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 1300339	NM_001136472.2(LITAF):c.220+65T>C	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298056	NM_001136472.2(LITAF):c.221-201G>A	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295304	NM_001136472.2(LITAF):c.378-126C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294994	NC_000016.10:g.11587040C>G	LITAF, LOC130058502	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1266284	NM_001136472.2(LITAF):c.-6+474T>C	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262127	NM_001136472.2(LITAF):c.-5-338dup	LITAF	Duplication (intron variant)	not provided	GBenign
Select item 1261460	NM_001136472.2(LITAF):c.377+1684_377+1687dup	LITAF	Duplication (intron variant)	not provided	GBenign
Select item 1256128	NM_001136472.2(LITAF):c.377+9G>C	LITAF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1249973	NM_001136472.2(LITAF):c.377+1612del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 1243140	NM_001136472.2(LITAF):c.-6+919A>G	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243042	NM_001136472.2(LITAF):c.377+1611_377+1612del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 1239799	NM_001136472.2(LITAF):c.221-229_221-228del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 1236923	NM_001136472.2(LITAF):c.378-30C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234269	NC_000016.10:g.11587065C>T	LITAF, LOC130058502	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1229250	NM_001136472.2(LITAF):c.377+1652del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 1227884	NM_001136472.2(LITAF):c.220+276T>A	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224008	NM_001136472.2(LITAF):c.377+1869del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 1223839	NC_000016.10:g.11587004C>G	LITAF, LOC130058502	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1222161	NM_001136472.2(LITAF):c.377+1557C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221212	NM_001136472.2(LITAF):c.221-131C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218890	NM_001136472.2(LITAF):c.377+297A>G	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218054	NM_001136472.2(LITAF):c.221-147A>C	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215798	NM_001136472.2(LITAF):c.378-27G>A	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213137	NM_001136472.2(LITAF):c.378-1794G>C	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign

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