ClinVar for Gene (Select 3906) - ClinVar - NCBI

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

Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289849	NM_002289.3(LALBA):c.101T>C (p.Ile34Thr)	LALBA (I34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117360	NM_002289.3(LALBA):c.268A>G (p.Asn90Asp)	LALBA (N90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117359	NM_002289.3(LALBA):c.244A>G (p.Ser82Gly)	LALBA (S82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525186	NM_002289.3(LALBA):c.197G>A (p.Ser66Asn)	LALBA (S66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403308	NM_002289.3(LALBA):c.326T>C (p.Met109Thr)	LALBA (M109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370980	NM_002289.3(LALBA):c.200C>T (p.Thr67Met)	LALBA (T67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342701	NM_002289.3(LALBA):c.190A>G (p.Asn64Asp)	LALBA (N64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 688471	GRCh37/hg19 12q13.11-13.12(chr12:48944713-49265377)x3	KANSL2, LALBA +5 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394378	GRCh37/hg19 12q13.11-13.12(chr12:48961450-49255821)x3	ADCY6, CACNB3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic