NEURL2[gene] - ClinVar

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Items: 36

	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 3195020	NM_080749.4(NEURL2):c.827A>C (p.Lys276Thr)	NEURL2, SPATA25 (K276T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459766	NM_080749.4(NEURL2):c.796C>T (p.Arg266Trp)	NEURL2, SPATA25 (R266W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2491714	NM_080749.4(NEURL2):c.752T>G (p.Leu251Arg)	NEURL2, SPATA25 (C256G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587955	NM_080749.4(NEURL2):c.746C>T (p.Pro249Leu)	SPATA25, NEURL2 (H254Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299367	NM_080749.4(NEURL2):c.740G>A (p.Gly247Asp)	NEURL2, SPATA25 (G247D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195007	NM_080749.4(NEURL2):c.499C>T (p.Leu167Phe)	NEURL2, SPATA25 (L167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545264	NM_080749.4(NEURL2):c.497G>A (p.Gly166Glu)	NEURL2, SPATA25 (G166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603521	NM_080749.4(NEURL2):c.476T>C (p.Leu159Pro)	NEURL2, SPATA25 (L159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194993	NM_080749.4(NEURL2):c.430G>A (p.Glu144Lys)	NEURL2, SPATA25 (E144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496468	NM_080749.4(NEURL2):c.427G>A (p.Val143Met)	NEURL2, SPATA25 (V143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194987	NM_080749.4(NEURL2):c.418A>G (p.Thr140Ala)	NEURL2, SPATA25 (T140A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1206356	NM_080749.4(NEURL2):c.406dup (p.Ser136fs)	NEURL2, SPATA25 (S136fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3299364	NM_080749.4(NEURL2):c.398C>T (p.Ala133Val)	NEURL2, SPATA25 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299365	NM_080749.4(NEURL2):c.391G>C (p.Glu131Gln)	NEURL2, SPATA25 (E131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567101	NM_080749.4(NEURL2):c.370C>T (p.Arg124Trp)	NEURL2, SPATA25 (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194985	NM_080749.4(NEURL2):c.334G>C (p.Val112Leu)	NEURL2, SPATA25 (V112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380465	NM_080749.4(NEURL2):c.269C>T (p.Pro90Leu)	NEURL2, SPATA25 (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299366	NM_080749.4(NEURL2):c.265G>T (p.Asp89Tyr)	NEURL2, SPATA25 (D89Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194983	NM_080749.4(NEURL2):c.149C>T (p.Ala50Val)	NEURL2, SPATA25 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 338513	NM_000308.3(CTSA):c.-322G>A	CTSA, NEURL2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 338514	NM_000308.3(CTSA):c.-292T>C	CTSA, NEURL2	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338515	NM_000308.3(CTSA):c.-271G>A	NEURL2, CTSA	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338516	NM_000308.3(CTSA):c.-238delC	CTSA, NEURL2	Deletion (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338517	NM_000308.3(CTSA):c.-237delT	CTSA, NEURL2	Deletion (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338518	NM_000308.3(CTSA):c.-234C>G	CTSA, NEURL2	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338519	NM_000308.3(CTSA):c.-223G>A	CTSA, NEURL2	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase +1 more	GLikely benign
Select item 338520	NM_000308.3(CTSA):c.-172A>C	CTSA, NEURL2	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase +1 more	GLikely benign
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: 36