ClinVar for Gene (Select 126805685) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147266	NM_001856.4(COL16A1):c.2667G>A (p.Met889Ile)	COL16A1, LOC126805685 (M889I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147265	NM_001856.4(COL16A1):c.2653A>G (p.Ile885Val)	COL16A1, LOC126805685 (I885V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147264	NM_001856.4(COL16A1):c.2636C>A (p.Pro879His)	COL16A1, LOC126805685 (P879H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2613949	NM_001856.4(COL16A1):c.2668C>T (p.Pro890Ser)	COL16A1, LOC126805685 (P890S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612454	NM_001856.4(COL16A1):c.2605G>C (p.Glu869Gln)	COL16A1, LOC126805685 (E869Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382056	NM_001856.4(COL16A1):c.2650C>T (p.Leu884Phe)	COL16A1, LOC126805685 (L884F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic