CXCL16[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 2400669	NM_001386809.1(CXCL16):c.662C>T (p.Ala221Val)	CXCL16 (A221V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079175	NM_001386809.1(CXCL16):c.619C>A (p.Pro207Thr)	CXCL16 (P207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476001	NM_001386809.1(CXCL16):c.610G>A (p.Ala204Thr)	CXCL16 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777096	NM_001386809.1(CXCL16):c.575C>T (p.Pro192Leu)	CXCL16 (P192L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2320073	NM_001386809.1(CXCL16):c.428C>G (p.Ser143Cys)	CXCL16 (S143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207631	NM_001386809.1(CXCL16):c.421C>T (p.Leu141Phe)	CXCL16 (L141F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555485	NM_001386809.1(CXCL16):c.388G>A (p.Ala130Thr)	CXCL16 (A130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079174	NM_001386809.1(CXCL16):c.320C>T (p.Ser107Leu)	CXCL16 (S107L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270403	NM_001386809.1(CXCL16):c.292G>C (p.Asp98His)	CXCL16 (D98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079173	NM_001386809.1(CXCL16):c.262C>G (p.Pro88Ala)	CXCL16 (P88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079172	NM_001386809.1(CXCL16):c.98G>A (p.Ser33Asn)	CXCL16 (S33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541905	NM_001386809.1(CXCL16):c.17G>T (p.Arg6Leu)	CXCL16 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210695	NM_001386809.1(CXCL16):c.5G>A (p.Gly2Glu)	CXCL16 (G2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272043	NM_001386809.1(CXCL16):c.-29C>T	CXCL16	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 777097	NM_001386809.1(CXCL16):c.-49G>A	CXCL16	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 1526562	GRCh37/hg19 17p13.2(chr17:4475016-4648525)	ALOX15, ARRB2 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564394	GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3	INCA1, SLC25A11 +18 more	Copy number gain	not provided	GUncertain significance
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441788	GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1	C17orf107, CHRNE +14 more	Copy number loss	See cases	GUncertain significance
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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Items: 47