ClinVar for Gene (Select 6370) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139739	NM_005624.4(CCL25):c.53C>T (p.Ala18Val)	CCL25 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139738	NM_005624.4(CCL25):c.146A>T (p.Tyr49Phe)	CCL25 (Y49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139737	NM_005624.4(CCL25):c.131G>A (p.Arg44Gln)	CCL25 (R44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570417	NM_005624.4(CCL25):c.112A>G (p.Ile38Val)	CCL25 (I38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 2375775	NM_005624.4(CCL25):c.12G>T (p.Trp4Cys)	CCL25 (W4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313152	NM_005624.4(CCL25):c.113T>C (p.Ile38Thr)	CCL25 (I38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	CCL25, MCOLN1 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 782620	NM_005624.4(CCL25):c.130C>T (p.Arg44Trp)	CCL25 (R44W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 545228	Single allele	ACTL9, ADAMTS10 +132 more	Duplication	Autism	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic