Related gene-specific medical variations for Gene (Select 140825) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3299366	NM_080749.4(NEURL2):c.265G>T (p.Asp89Tyr)	NEURL2, SPATA25 (D89Y)	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 3299364	NM_080749.4(NEURL2):c.398C>T (p.Ala133Val)	NEURL2, SPATA25 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3195007	NM_080749.4(NEURL2):c.499C>T (p.Leu167Phe)	NEURL2, SPATA25 (L167F)	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 3194987	NM_080749.4(NEURL2):c.418A>G (p.Thr140Ala)	NEURL2, SPATA25 (T140A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3194983	NM_080749.4(NEURL2):c.149C>T (p.Ala50Val)	NEURL2, SPATA25 (A50V)	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 2587955	NM_080749.4(NEURL2):c.746C>T (p.Pro249Leu)	NEURL2, SPATA25 (H254Y +1 more)	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 2545264	NM_080749.4(NEURL2):c.497G>A (p.Gly166Glu)	NEURL2, SPATA25 (G166E)	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 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 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 2380465	NM_080749.4(NEURL2):c.269C>T (p.Pro90Leu)	NEURL2, SPATA25 (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206356	NM_080749.4(NEURL2):c.406dup (p.Ser136fs)	NEURL2, SPATA25 (S136fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 338513	NM_080749.4(NEURL2):c.-13C>T	CTSA, NEURL2 +1 more	Single nucleotide variant (5 prime UTR variant)	Combined deficiency of sialidase AND beta galactosidase +1 more	GBenign

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Links from Gene

Items: 20