SPINT3[gene] - ClinVar - NCBI

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Items: 19

	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 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3169183	NM_006652.2(SPINT3):c.266C>A (p.Thr89Asn)	SPINT3 (T89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169182	NM_006652.2(SPINT3):c.181T>C (p.Cys61Arg)	SPINT3 (C61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250426	NM_006652.2(SPINT3):c.164A>G (p.Asn55Ser)	SPINT3 (N55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627996	NM_006652.2(SPINT3):c.149C>T (p.Thr50Met)	SPINT3 (T50M)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2217586	NM_006652.2(SPINT3):c.126G>C (p.Lys42Asn)	SPINT3 (K42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341923	NM_006652.2(SPINT3):c.118A>G (p.Met40Val)	SPINT3 (M40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169181	NM_006652.2(SPINT3):c.109G>A (p.Ala37Thr)	SPINT3 (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169184	NM_006652.2(SPINT3):c.59G>A (p.Arg20Gln)	SPINT3 (R20Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519132	NM_006652.2(SPINT3):c.53A>C (p.Glu18Ala)	SPINT3 (E18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350730	NM_006652.2(SPINT3):c.31C>G (p.Leu11Val)	SPINT3 (L11V)	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 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
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