51526[Gene ID] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2476629	NM_016470.8(OSER1):c.773G>A (p.Arg258Gln)	OSER1 (R258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263601	NM_016470.8(OSER1):c.562G>C (p.Val188Leu)	OSER1 (V188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519449	NM_016470.8(OSER1):c.518C>A (p.Pro173His)	OSER1 (P173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288585	NM_016470.8(OSER1):c.505G>A (p.Ala169Thr)	OSER1 (A169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246652	NM_016470.8(OSER1):c.458C>T (p.Ser153Phe)	OSER1 (S153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237225	NM_016470.8(OSER1):c.376C>G (p.Pro126Ala)	OSER1 (P126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256281	NM_016470.8(OSER1):c.334A>G (p.Thr112Ala)	OSER1 (T112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303597	NM_016470.8(OSER1):c.170C>T (p.Ala57Val)	OSER1 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207143	NM_016470.8(OSER1):c.113G>T (p.Gly38Val)	OSER1 (G38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 979733	GRCh37/hg19 20q13.12(chr20:42778133-43079191)x1	R3HDML, OSER1 +4 more	Copy number loss	not provided	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 493564	GRCh37/hg19 20q13.12(chr20:42818852-43180449)x3	PKIG, R3HDML +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic