ClinVar for MedGen (Select 811538) - ClinVar

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Items: 29

	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 3061855	NM_020347.4(LZTFL1):c.778-3C>T	LZTFL1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 17	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 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 1426450	NM_020347.4(LZTFL1):c.281G>C (p.Trp94Ser)	LZTFL1 (W77S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 17 +1 more	GUncertain significance
Select item 1400857	NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser)	LZTFL1 (R19S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 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 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 1314341	NM_020347.4(LZTFL1):c.324-3A>G	LZTFL1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 17 +1 more	GUncertain significance
Select item 1170837	NM_020347.4(LZTFL1):c.128+13G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 1169296	NM_020347.4(LZTFL1):c.881+16C>T	LZTFL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 1108803	NM_020347.4(LZTFL1):c.881+19G>A	LZTFL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 1019150	NM_020347.4(LZTFL1):c.56G>A (p.Arg19His)	LZTFL1 (R19H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1014254	NM_020347.4(LZTFL1):c.361G>A (p.Glu121Lys)	LZTFL1 (E104K +2 more)	Single nucleotide variant (missense variant +1 more)	LZTFL1-related disorder +3 more	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 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 828163	NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile)	LZTFL1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Bardet-Biedl syndrome 17	GLikely pathogenic
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 523081	NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys)	LZTFL1 (R22C +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 17	GUncertain significance
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 126380	NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)	LZTFL1 (L70P +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 17	GPathogenic
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

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Items: 29