CXCR6[gene] - ClinVar

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Items: 22

	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 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 3270429	NM_006564.2(CXCR6):c.85T>A (p.Phe29Ile)	CXCR6, FYCO1 (F29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377362	NM_006564.2(CXCR6):c.197C>T (p.Thr66Met)	CXCR6, FYCO1 (T66M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 756060	NM_006564.2(CXCR6):c.231C>T (p.Asp77=)	CXCR6, FYCO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3079219	NM_006564.2(CXCR6):c.281A>G (p.Glu94Gly)	CXCR6, FYCO1 (E94G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354599	NM_006564.2(CXCR6):c.320G>A (p.Gly107Asp)	CXCR6, FYCO1 (G107D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771134	NM_006564.2(CXCR6):c.552C>T (p.Asp184=)	CXCR6, FYCO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3079220	NM_006564.2(CXCR6):c.625G>A (p.Val209Ile)	CXCR6, FYCO1 (V209I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716101	NM_006564.2(CXCR6):c.702C>T (p.Phe234=)	CXCR6, FYCO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2619529	NM_006564.2(CXCR6):c.760C>T (p.Arg254Cys)	CXCR6, FYCO1 (R254C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321431	NM_006564.2(CXCR6):c.847C>T (p.Leu283Phe)	CXCR6, FYCO1 (L283F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079221	NM_006564.2(CXCR6):c.938G>A (p.Gly313Glu)	CXCR6, FYCO1 (G313E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307387	NM_006564.2(CXCR6):c.1009A>C (p.Thr337Pro)	CXCR6, FYCO1 (T337P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 22