SPINT4[gene] - ClinVar

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Items: 20

	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 145195	GRCh38/hg38 20q13.12(chr20:45722054-45741776)x1	SPINT4	Copy number loss	See cases	GBenign/Likely benign
Select item 157464	Single allele	SPINT4	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 3169185	NM_178455.3(SPINT4):c.133A>G (p.Met45Val)	SPINT4 (M45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618127	NM_178455.3(SPINT4):c.161A>C (p.His54Pro)	SPINT4 (H54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461433	NM_178455.3(SPINT4):c.231C>A (p.Asn77Lys)	SPINT4 (N77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330868	NM_178455.3(SPINT4):c.231C>G (p.Asn77Lys)	SPINT4 (N77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169186	NM_178455.3(SPINT4):c.259C>T (p.Arg87Cys)	SPINT4 (R87C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169187	NM_178455.3(SPINT4):c.262G>C (p.Glu88Gln)	SPINT4 (E88Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371471	NM_178455.3(SPINT4):c.262G>A (p.Glu88Lys)	SPINT4 (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214498	NM_178455.3(SPINT4):c.269C>G (p.Ala90Gly)	SPINT4 (A90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169188	NM_178455.3(SPINT4):c.290C>T (p.Pro97Leu)	SPINT4 (P97L)	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

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Items: 20