ClinVar for Gene (Select 90070) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289832	NM_033277.2(LACRT):c.317T>G (p.Met106Arg)	LACRT (M106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289830	NM_033277.2(LACRT):c.160C>G (p.Pro54Ala)	LACRT (P54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289829	NM_033277.2(LACRT):c.279A>T (p.Leu93Phe)	LACRT (L93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117307	NM_033277.2(LACRT):c.334G>C (p.Gly112Arg)	LACRT (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117306	NM_033277.2(LACRT):c.31G>A (p.Ala11Thr)	LACRT (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117305	NM_033277.2(LACRT):c.191C>T (p.Ser64Leu)	LACRT (S64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596909	NM_033277.2(LACRT):c.265G>A (p.Glu89Lys)	LACRT (E89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528058	NM_033277.2(LACRT):c.224C>T (p.Thr75Ile)	LACRT (T75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470894	NM_033277.2(LACRT):c.101A>G (p.Glu34Gly)	LACRT (E34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396960	NM_033277.2(LACRT):c.43G>T (p.Ala15Ser)	LACRT (A15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290031	NM_033277.2(LACRT):c.318G>T (p.Met106Ile)	LACRT (M106I)	Single nucleotide variant (missense variant)	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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic