Related gene-specific medical variations for Gene (Select 54585) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584608	NM_031200.3(CCR9):c.40G>T (p.Ala14Ser)	LZTFL1, CCR9 (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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 780381	NM_031200.3(CCR9):c.406C>T (p.Leu136=)	CCR9, LZTFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 273470	NM_031200.3(CCR9):c.3G>T (p.Met1Ile)	CCR9, LZTFL1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Hirschsprung disease, susceptibility to, 1	GUncertain significance