ClinVar for Gene (Select 131375) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2609930	NM_144634.4(LYZL4):c.200G>A (p.Arg67His)	LYZL4 (R67H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609814	NM_144634.4(LYZL4):c.307A>G (p.Asn103Asp)	LYZL4 (N103D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2548445	NM_144634.4(LYZL4):c.368C>T (p.Ala123Val)	LYZL4 (A123V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520013	NM_144634.4(LYZL4):c.340A>C (p.Ile114Leu)	LYZL4 (I114L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515647	NM_144634.4(LYZL4):c.199C>T (p.Arg67Cys)	LYZL4 (R67C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383904	NM_144634.4(LYZL4):c.110A>T (p.Asp37Val)	LYZL4 (D37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376065	NM_144634.4(LYZL4):c.43G>A (p.Val15Ile)	LYZL4 (V15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246495	NM_144634.4(LYZL4):c.182C>T (p.Ala61Val)	LYZL4 (A61V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	POMGNT2, SEC22C +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 980512	GRCh37/hg19 3p22.1(chr3:42008472-42610176)x3	LYZL4, SEC22C +3 more	Copy number gain	not provided	GUncertain significance
Select item 770518	NM_144634.4(LYZL4):c.303T>C (p.Asn101=)	LYZL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 57726	GRCh38/hg38 3p22.1(chr3:41880503-42550279)x3	CCK, LOC121009659 +36 more	Copy number gain	See cases	GUncertain significance