LZTFL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145538	GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3	CCR1, CCR3 +23 more	Copy number gain	See cases	GLikely benign
Select item 3352038	NM_020347.4(LZTFL1):c.894A>G (p.Glu298=)	LZTFL1	Single nucleotide variant (synonymous variant +2 more)	LZTFL1-related disorder	GLikely benign
Select item 1962314	NM_020347.4(LZTFL1):c.893A>T (p.Glu298Val)	LZTFL1 (E276V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1910181	NM_020347.4(LZTFL1):c.886G>C (p.Glu296Gln)	LZTFL1 (E274Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3348119	NM_020347.4(LZTFL1):c.882-10A>C	LZTFL1	Single nucleotide variant (intron variant)	LZTFL1-related disorder	GLikely benign
Select item 1552143	NM_020347.4(LZTFL1):c.882-10A>G	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531722	NM_020347.4(LZTFL1):c.881+19G>T	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1108803	NM_020347.4(LZTFL1):c.881+19G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1166042	NM_020347.4(LZTFL1):c.881+18C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1169296	NM_020347.4(LZTFL1):c.881+16C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1150206	NM_020347.4(LZTFL1):c.867G>A (p.Arg289=)	LZTFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2018728	NM_020347.4(LZTFL1):c.843G>A (p.Lys281=)	LZTFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1058235	NM_020347.4(LZTFL1):c.815G>A (p.Arg272Gln)	LZTFL1 (R255Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1026239	NM_020347.4(LZTFL1):c.812A>G (p.Tyr271Cys)	LZTFL1 (Y254C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 840312	NM_020347.4(LZTFL1):c.800A>G (p.Gln267Arg)	LZTFL1 (Q250R +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 943991	NM_020347.4(LZTFL1):c.798G>C (p.Gln266His)	LZTFL1 (Q266H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1544703	NM_020347.4(LZTFL1):c.792A>G (p.Lys264=)	LZTFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2111033	NM_020347.4(LZTFL1):c.783A>G (p.Leu261=)	LZTFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 126381	NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)	LZTFL1 (E243* +1 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 17	GPathogenic
Select item 1345900	NM_020347.4(LZTFL1):c.778-1G>A	LZTFL1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 3061855	NM_020347.4(LZTFL1):c.778-3C>T	LZTFL1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 17	GUncertain significance
Select item 2877462	NM_020347.4(LZTFL1):c.777+7_777+9del	LZTFL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1356804	NM_020347.4(LZTFL1):c.766A>G (p.Met256Val)	LZTFL1 (M256V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1481660	NM_020347.4(LZTFL1):c.742C>T (p.Leu248Phe)	LZTFL1 (L231F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1164870	NM_020347.4(LZTFL1):c.736G>A (p.Asp246Asn)	LZTFL1 (D229N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1148644	NM_020347.4(LZTFL1):c.735C>T (p.His245=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962546	NM_020347.4(LZTFL1):c.726A>G (p.Thr242=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 963919	NM_020347.4(LZTFL1):c.724A>G (p.Thr242Ala)	LZTFL1 (T242A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1549338	NM_020347.4(LZTFL1):c.723G>A (p.Ala241=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1489062	NM_020347.4(LZTFL1):c.722C>T (p.Ala241Val)	LZTFL1 (A237V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 942084	NM_020347.4(LZTFL1):c.721G>A (p.Ala241Thr)	LZTFL1 (A241T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1955526	NM_020347.4(LZTFL1):c.715A>G (p.Asn239Asp)	LZTFL1 (N235D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1348088	NM_020347.4(LZTFL1):c.701A>G (p.Lys234Arg)	LZTFL1 (K217R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 733625	NM_020347.4(LZTFL1):c.685A>G (p.Lys229Glu)	LZTFL1 (K229E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2125779	NM_020347.4(LZTFL1):c.682G>A (p.Asp228Asn)	LZTFL1 (D211N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920289	NM_020347.4(LZTFL1):c.679A>G (p.Asn227Asp)	LZTFL1 (N210D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3355994	NM_020347.4(LZTFL1):c.675A>T (p.Thr225=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	LZTFL1-related disorder	GLikely benign
Select item 1581395	NM_020347.4(LZTFL1):c.675A>G (p.Thr225=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1939588	NM_020347.4(LZTFL1):c.663G>C (p.Glu221Asp)	LZTFL1 (E199D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1664196	NM_020347.4(LZTFL1):c.654A>G (p.Leu218=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1145892	NM_020347.4(LZTFL1):c.648T>C (p.Ala216=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1169361	NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr)	LZTFL1 (A199T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1584603	NM_020347.4(LZTFL1):c.645C>T (p.Val215=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2154813	NM_020347.4(LZTFL1):c.634G>A (p.Glu212Lys)	LZTFL1 (E190K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1018200	NM_020347.4(LZTFL1):c.625A>T (p.Ser209Cys)	LZTFL1 (S192C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1003935	NM_020347.4(LZTFL1):c.625A>G (p.Ser209Gly)	LZTFL1 (S192G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 964027	NM_020347.4(LZTFL1):c.624A>C (p.Leu208Phe)	LZTFL1 (L204F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 960742	NM_020347.4(LZTFL1):c.609A>G (p.Ile203Met)	LZTFL1 (I186M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2048577	NM_020347.4(LZTFL1):c.606dup (p.Ile203fs)	LZTFL1 (I199fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1559377	NM_020347.4(LZTFL1):c.601-5C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908858	NM_020347.4(LZTFL1):c.601-15A>G	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580677	NM_020347.4(LZTFL1):c.601-16C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028660	NM_020347.4(LZTFL1):c.600+10G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898730	NM_020347.4(LZTFL1):c.590G>T (p.Gly197Val)	LZTFL1 (G175V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 972115	NM_020347.4(LZTFL1):c.583G>C (p.Asp195His)	LZTFL1 (D178H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2038470	NM_020347.4(LZTFL1):c.561_563delinsTT (p.Lys187fs)	LZTFL1 (K170fs +2 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 2017249	NM_020347.4(LZTFL1):c.555A>G (p.Leu185=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1497874	NM_020347.4(LZTFL1):c.554T>C (p.Leu185Pro)	LZTFL1 (L181P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 854500	NM_020347.4(LZTFL1):c.548C>T (p.Ser183Leu)	LZTFL1 (S166L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959392	NM_020347.4(LZTFL1):c.523-11C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919584	NM_020347.4(LZTFL1):c.522+13T>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748632	NM_020347.4(LZTFL1):c.522+9G>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1720869	NM_020347.4(LZTFL1):c.512T>C (p.Ile171Thr)	LZTFL1 (I154T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1655665	NM_020347.4(LZTFL1):c.509C>A (p.Thr170Asn)	LZTFL1 (T153N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3234009	NM_020347.4(LZTFL1):c.505A>T (p.Lys169Ter)	LZTFL1 (K152* +2 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 17	GPathogenic
Select item 1078976	NM_020347.4(LZTFL1):c.490T>C (p.Leu164=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3346072	NM_020347.4(LZTFL1):c.458A>G (p.Glu153Gly)	LZTFL1 (E136G +3 more)	Single nucleotide variant (missense variant +2 more)	LZTFL1-related disorder	GUncertain significance
Select item 1333226	NM_020347.4(LZTFL1):c.457-1G>T	LZTFL1	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 17	GLikely pathogenic
Select item 3355727	NM_020347.4(LZTFL1):c.457-4A>G	LZTFL1	Single nucleotide variant (intron variant)	LZTFL1-related disorder	GUncertain significance
Select item 1603055	NM_020347.4(LZTFL1):c.456+14T>A	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134417	NM_020347.4(LZTFL1):c.456+7T>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3354086	NM_020347.4(LZTFL1):c.456+6A>G	LZTFL1	Single nucleotide variant (intron variant)	LZTFL1-related disorder	GLikely benign
Select item 1022800	NM_020347.4(LZTFL1):c.454A>G (p.Lys152Glu)	LZTFL1 (K135E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 857972	NM_020347.4(LZTFL1):c.440C>G (p.Ala147Gly)	LZTFL1 (A130G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1047291	NM_020347.4(LZTFL1):c.437C>T (p.Thr146Ile)	LZTFL1 (T129I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3356698	NM_020347.4(LZTFL1):c.429A>G (p.Glu143=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	LZTFL1-related disorder	GLikely benign
Select item 1997074	NM_020347.4(LZTFL1):c.425A>G (p.Asn142Ser)	LZTFL1 (N150S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1019255	NM_020347.4(LZTFL1):c.422T>C (p.Leu141Pro)	LZTFL1 (L124P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 741647	NM_020347.4(LZTFL1):c.420A>G (p.Pro140=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2498317	NM_020347.4(LZTFL1):c.415dup (p.Ala139fs)	LZTFL1 (A122fs +3 more)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 737191	NM_020347.4(LZTFL1):c.414T>G (p.Leu138=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 39770	NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs)	LZTFL1 (P132fs +2 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 17	GPathogenic
Select item 1058140	NM_020347.4(LZTFL1):c.401C>T (p.Thr134Ile)	LZTFL1 (T117I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3348308	NM_020347.4(LZTFL1):c.396T>C (p.Asp132=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	LZTFL1-related disorder	GLikely benign
Select item 3349533	NM_020347.4(LZTFL1):c.395A>G (p.Asp132Gly)	LZTFL1 (D115G +3 more)	Single nucleotide variant (missense variant +1 more)	LZTFL1-related disorder	GUncertain significance
Select item 1015151	NM_020347.4(LZTFL1):c.388A>G (p.Ile130Val)	LZTFL1 (I113V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 950068	NM_020347.4(LZTFL1):c.385-2del	LZTFL1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1551849	NM_020347.4(LZTFL1):c.385-12_385-8del	LZTFL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1670241	NM_020347.4(LZTFL1):c.385-16_385-13del	LZTFL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1108175	NM_020347.4(LZTFL1):c.385-16C>G	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660505	NM_020347.4(LZTFL1):c.384+20A>G	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642746	NM_020347.4(LZTFL1):c.384+12G>T	LZTFL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2741310	NM_020347.4(LZTFL1):c.384+9T>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1403291	NM_020347.4(LZTFL1):c.384+5_384+6insCC	LZTFL1	Insertion (intron variant)	not provided	GUncertain significance
Select item 2780021	NM_020347.4(LZTFL1):c.384G>A (p.Lys128=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic
Select item 1717664	NM_020347.4(LZTFL1):c.377A>T (p.Asn126Ile)	LZTFL1 (N109I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 778069	NM_020347.4(LZTFL1):c.376A>C (p.Asn126His)	LZTFL1 (N122H +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 17 +1 more	GBenign/Likely benign
Select item 3352236	NM_020347.4(LZTFL1):c.373T>A (p.Ser125Thr)	LZTFL1 (S108T +3 more)	Single nucleotide variant (missense variant +1 more)	LZTFL1-related disorder	GUncertain significance
Select item 1497095	NM_020347.4(LZTFL1):c.371C>A (p.Ser124Tyr)	LZTFL1 (S107Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3349467	NM_020347.4(LZTFL1):c.363G>C (p.Glu121Asp)	LZTFL1 (E104D +3 more)	Single nucleotide variant (missense variant +1 more)	LZTFL1-related disorder	GUncertain significance

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