ClinVar for Gene (Select 54585) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3140111	NM_031200.3(CCR9):c.793T>G (p.Leu265Val)	CCR9, LZTFL1 (L253V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140110	NM_031200.3(CCR9):c.784G>A (p.Val262Ile)	CCR9, LZTFL1 (V262I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140109	NM_031200.3(CCR9):c.629T>C (p.Leu210Pro)	CCR9, LZTFL1 (L210P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140108	NM_031200.3(CCR9):c.489G>C (p.Leu163Phe)	CCR9, LZTFL1 (L151F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140107	NM_031200.3(CCR9):c.488T>G (p.Leu163Trp)	CCR9, LZTFL1 (L151W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140106	NM_031200.3(CCR9):c.250G>A (p.Asp84Asn)	CCR9, LZTFL1 (D72N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121787	NM_020347.4(LZTFL1):c.166G>A (p.Glu56Lys)	LZTFL1 (E52K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3061524	NM_020347.4(LZTFL1):c.340G>A (p.Val114Ile)	LZTFL1 (V110I +3 more)	Single nucleotide variant (missense variant +1 more)	LZTFL1-related disorder	GUncertain significance
Select item 3059402	NM_001276379.2(LZTFL1):c.36G>A (p.Gln12=)	LZTFL1	Single nucleotide variant (5 prime UTR variant +3 more)	LZTFL1-related disorder	GLikely benign
Select item 3051858	NM_001276378.2(LZTFL1):c.-170T>G	LZTFL1	Single nucleotide variant (5 prime UTR variant +1 more)	LZTFL1-related disorder	GLikely benign
Select item 3049487	NM_001276379.2(LZTFL1):c.10C>G (p.Gln4Glu)	LZTFL1 (Q4E)	Single nucleotide variant (5 prime UTR variant +2 more)	LZTFL1-related disorder	GUncertain significance
Select item 3042267	NM_020347.4(LZTFL1):c.363G>A (p.Glu121=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	LZTFL1-related disorder	GLikely benign
Select item 3039964	NM_001276379.2(LZTFL1):c.52T>G (p.Leu18Val)	LZTFL1 (L18V)	Single nucleotide variant (5 prime UTR variant +3 more)	LZTFL1-related disorder	GUncertain significance
Select item 3037258	NM_001276379.2(LZTFL1):c.26T>C (p.Met9Thr)	LZTFL1 (M9T)	Single nucleotide variant (5 prime UTR variant +2 more)	LZTFL1-related disorder	GLikely benign
Select item 3029918	NM_020347.4(LZTFL1):c.231C>G (p.Ala77=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	LZTFL1-related disorder	GLikely benign
Select item 3029602	NM_001276379.2(LZTFL1):c.66C>T (p.His22=)	LZTFL1	Single nucleotide variant (5 prime UTR variant +3 more)	LZTFL1-related disorder	GLikely benign
Select item 3005975	NM_020347.4(LZTFL1):c.42T>C (p.Val14=)	LZTFL1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2994471	NM_020347.4(LZTFL1):c.323+20C>G	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986691	NM_020347.4(LZTFL1):c.129-12G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959392	NM_020347.4(LZTFL1):c.523-11C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877462	NM_020347.4(LZTFL1):c.777+7_777+9del	LZTFL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2870408	NM_020347.4(LZTFL1):c.128+9G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801224	NM_020347.4(LZTFL1):c.180A>T (p.Gly60=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2767193	NM_020347.4(LZTFL1):c.233A>C (p.Tyr78Ser)	LZTFL1 (Y78S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2741310	NM_020347.4(LZTFL1):c.384+9T>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709040	NM_020347.4(LZTFL1):c.109C>T (p.Gln37Ter)	LZTFL1 (Q37* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2634303	NM_001276379.2(LZTFL1):c.28-5T>G	LZTFL1	Single nucleotide variant (intron variant)	LZTFL1-related disorder	GUncertain significance
Select item 2584608	NM_031200.3(CCR9):c.40G>T (p.Ala14Ser)	CCR9, LZTFL1 (A14S +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 17	GUncertain significance
Select item 2573036	NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)	LZTFL1 (R68* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 17	GPathogenic
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 2472896	NM_031200.3(CCR9):c.1007G>A (p.Gly336Asp)	CCR9, LZTFL1 (G324D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426538	NC_000003.11:g.(?_45867806)_(45877296_?)del	LZTFL1	Deletion	not provided	GPathogenic
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2398012	NM_031200.3(CCR9):c.524T>C (p.Leu175Ser)	CCR9, LZTFL1 (L163S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397493	NM_031200.3(CCR9):c.580G>A (p.Gly194Ser)	CCR9, LZTFL1 (G194S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312269	NM_031200.3(CCR9):c.833C>T (p.Thr278Ile)	CCR9, LZTFL1 (T278I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265396	NM_031200.3(CCR9):c.1028G>C (p.Trp343Ser)	CCR9, LZTFL1 (W331S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258645	NM_031200.3(CCR9):c.74T>C (p.Met25Thr)	CCR9, LZTFL1 (M25T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255011	NM_031200.3(CCR9):c.1016G>A (p.Ser339Asn)	CCR9, LZTFL1 (S327N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252520	NM_031200.3(CCR9):c.725T>C (p.Ile242Thr)	CCR9, LZTFL1 (I230T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2193899	NM_020347.4(LZTFL1):c.129-10T>G	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154813	NM_020347.4(LZTFL1):c.634G>A (p.Glu212Lys)	LZTFL1 (E190K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134417	NM_020347.4(LZTFL1):c.456+7T>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128411	NM_020347.4(LZTFL1):c.360A>G (p.Ala120=)	LZTFL1	Single nucleotide variant (synonymous 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 2114283	NM_020347.4(LZTFL1):c.352G>A (p.Glu118Lys)	LZTFL1 (E118K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2110042	NM_020347.4(LZTFL1):c.128+10G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097835	NM_020347.4(LZTFL1):c.302A>T (p.Asp101Val)	LZTFL1 (D109V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093031	NM_020347.4(LZTFL1):c.129-14T>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088877	NM_020347.4(LZTFL1):c.12G>A (p.Leu4=)	LZTFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2045531	NM_020347.4(LZTFL1):c.44T>C (p.Ile15Thr)	LZTFL1 (I15T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 2028660	NM_020347.4(LZTFL1):c.600+10G>A	LZTFL1	Single nucleotide variant (intron variant)	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 2017249	NM_020347.4(LZTFL1):c.555A>G (p.Leu185=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2011481	NM_020347.4(LZTFL1):c.266C>T (p.Ala89Val)	LZTFL1 (A97V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000176	NM_020347.4(LZTFL1):c.337C>G (p.Gln113Glu)	LZTFL1 (Q96E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1999507	NM_020347.4(LZTFL1):c.261G>T (p.Leu87=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1978297	NM_020347.4(LZTFL1):c.254G>T (p.Arg85Leu)	LZTFL1 (R81L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1964607	NM_020347.4(LZTFL1):c.303C>T (p.Asp101=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 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 1961664	NM_020347.4(LZTFL1):c.129-16C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960140	NM_020347.4(LZTFL1):c.256C>T (p.Gln86Ter)	LZTFL1 (Q82* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1957877	NM_020347.4(LZTFL1):c.128+18T>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1940103	NM_020347.4(LZTFL1):c.65G>A (p.Arg22His)	LZTFL1 (R30H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939588	NM_020347.4(LZTFL1):c.663G>C (p.Glu221Asp)	LZTFL1 (E199D +4 more)	Single nucleotide variant (non-coding transcript 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 1919584	NM_020347.4(LZTFL1):c.522+13T>C	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910210	NM_020347.4(LZTFL1):c.69A>G (p.Ser23=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910181	NM_020347.4(LZTFL1):c.886G>C (p.Glu296Gln)	LZTFL1 (E274Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1908858	NM_020347.4(LZTFL1):c.601-15A>G	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902342	NM_020347.4(LZTFL1):c.323+20C>T	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 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 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 1716775	NM_020347.4(LZTFL1):c.151A>C (p.Ile51Leu)	LZTFL1 (I34L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716774	NM_020347.4(LZTFL1):c.188C>T (p.Ala63Val)	LZTFL1 (A46V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1670241	NM_020347.4(LZTFL1):c.385-16_385-13del	LZTFL1	Deletion (intron variant)	not provided	GLikely benign
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 1660505	NM_020347.4(LZTFL1):c.384+20A>G	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656530	NM_020347.4(LZTFL1):c.128+12G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1642758	NM_020347.4(LZTFL1):c.128+13del	LZTFL1	Deletion (intron variant)	not provided +1 more	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 1642281	NM_020347.4(LZTFL1):c.331T>C (p.Leu111=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1636858	NM_020347.4(LZTFL1):c.4-16C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603055	NM_020347.4(LZTFL1):c.456+14T>A	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely 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 1581395	NM_020347.4(LZTFL1):c.675A>G (p.Thr225=)	LZTFL1	Single nucleotide variant (synonymous variant +1 more)	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 1559377	NM_020347.4(LZTFL1):c.601-5C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557711	NM_020347.4(LZTFL1):c.128+7G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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