LYZL6[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292433	NM_020426.4(LYZL6):c.412C>T (p.Leu138Phe)	LYZL6 (L138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121780	NM_020426.4(LYZL6):c.359C>G (p.Ala120Gly)	LYZL6 (A120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121779	NM_020426.4(LYZL6):c.344G>C (p.Arg115Thr)	LYZL6 (R115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121778	NM_020426.4(LYZL6):c.283C>T (p.His95Tyr)	LYZL6 (H95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121777	NM_020426.4(LYZL6):c.240C>G (p.His80Gln)	LYZL6 (H80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540295	NM_020426.4(LYZL6):c.209T>C (p.Phe70Ser)	LYZL6 (F70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473890	NM_020426.4(LYZL6):c.197C>T (p.Ala66Val)	LYZL6 (A66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594787	NM_020426.4(LYZL6):c.157G>A (p.Val53Met)	LYZL6 (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121781	NM_020426.4(LYZL6):c.71G>A (p.Arg24His)	LYZL6 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467415	NM_020426.4(LYZL6):c.53A>G (p.Gln18Arg)	LYZL6 (Q18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254567	NM_020426.4(LYZL6):c.32G>A (p.Ser11Asn)	LYZL6 (S11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121776	NM_020426.4(LYZL6):c.11C>T (p.Ala4Val)	LYZL6 (A4V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 815929	GRCh37/hg19 17q12(chr17:34158619-34477480)x4	CCL14, CCL15 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685762	GRCh37/hg19 17q12(chr17:34151183-34477480)x3	CCL14, CCL15 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 20