LOC126807355[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 2206599	NM_018321.4(BRIX1):c.479A>G (p.Lys160Arg)	BRIX1, LOC126807355 +1 more (K160R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135081	NM_018321.4(BRIX1):c.490C>A (p.Pro164Thr)	BRIX1, LOC126807355 +1 more (P164T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2484626	NM_018321.4(BRIX1):c.566T>G (p.Phe189Cys)	BRIX1, LOC126807355 +1 more (F189C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135082	NM_018321.4(BRIX1):c.598C>T (p.Pro200Ser)	BRIX1, LOC126807355 +1 more (P200S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261840	NM_018321.4(BRIX1):c.604G>A (p.Val202Met)	BRIX1, LOC126807355 +1 more (V202M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135083	NM_018321.4(BRIX1):c.611A>G (p.His204Arg)	BRIX1, LOC126807355 +1 more (H204R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261838	NM_018321.4(BRIX1):c.622T>C (p.Phe208Leu)	BRIX1, LOC126807355 +1 more (F208L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327503	NM_018321.4(BRIX1):c.634G>A (p.Asp212Asn)	BRIX1, LOC126807355 +1 more (D212N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135084	NM_018321.4(BRIX1):c.637A>G (p.Asn213Asp)	BRIX1, LOC126807355 +1 more (N213D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261843	NM_018321.4(BRIX1):c.652C>T (p.Arg218Trp)	BRIX1, LOC126807355 +1 more (R218W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135085	NM_018321.4(BRIX1):c.661C>G (p.Gln221Glu)	BRIX1, LOC126807355 +1 more (Q221E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 20