ClinVar for Gene (Select 10803) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264650	NM_031200.3(CCR9):c.628C>G (p.Leu210Val)	CCR9, LZTFL1 (L198V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264649	NM_031200.3(CCR9):c.775G>A (p.Val259Ile)	CCR9, LZTFL1 (V259I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264647	NM_031200.3(CCR9):c.1038T>A (p.Phe346Leu)	CCR9, LZTFL1 (F334L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	CCR1, CCR2 +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 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 832190	NC_000003.12:g.(?_45826314)_(46021947_?)dup	CCR9, CXCR6 +3 more	Duplication	not provided	GUncertain significance
Select item 780381	NM_031200.3(CCR9):c.406C>T (p.Leu136=)	LZTFL1, CCR9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686472	GRCh37/hg19 3p21.31(chr3:45862803-46173511)x3	CCR9, CXCR6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 273470	NM_031200.3(CCR9):c.3G>T (p.Met1Ile)	LZTFL1, CCR9 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 145538	GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3	CCR1, CCR3 +23 more	Copy number gain	See cases	GLikely benign
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30