SS18L2[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170294	NM_001370300.1(SS18L2):c.35G>C (p.Gly12Ala)	SEC22C, SS18L2 (G12A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288598	NM_001370300.1(SS18L2):c.90G>T (p.Gln30His)	SEC22C, SS18L2 (Q30H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400737	NM_001370300.1(SS18L2):c.109G>A (p.Glu37Lys)	SEC22C, SS18L2 (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566404	NM_001370300.1(SS18L2):c.142G>A (p.Val48Met)	SEC22C, SS18L2 (V48M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527013	GRCh37/hg19 3p22.1(chr3:42566141-42673896)	NKTR, SEC22C +2 more	Copy number loss	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	ABHD5, ACKR2 +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
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	HHLA2, HIGD1A +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