Related gene-specific medical variations for Gene (Select 54827) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301739	NM_001077639.2(NXPE4):c.562G>A (p.Val188Met)	NXPE2, NXPE4 (V188M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301738	NM_001077639.2(NXPE4):c.443T>C (p.Met148Thr)	NXPE2, NXPE4 (M148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301737	NM_001077639.2(NXPE4):c.124T>G (p.Ser42Ala)	NXPE2, NXPE4 (S42A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301736	NM_001077639.2(NXPE4):c.238G>A (p.Asp80Asn)	NXPE2, NXPE4 (D80N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203545	NM_001077639.2(NXPE4):c.94A>G (p.Lys32Glu)	NXPE2, NXPE4 (K32E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203544	NM_001077639.2(NXPE4):c.940A>G (p.Thr314Ala)	NXPE2, NXPE4 (T30A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203543	NM_001077639.2(NXPE4):c.907A>G (p.Met303Val)	NXPE2, NXPE4 (M19V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203541	NM_001077639.2(NXPE4):c.434C>T (p.Pro145Leu)	NXPE2, NXPE4 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203540	NM_001077639.2(NXPE4):c.226A>G (p.Ile76Val)	NXPE2, NXPE4 (I76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203539	NM_001077639.2(NXPE4):c.1532T>C (p.Ile511Thr)	NXPE2, NXPE4 (I511T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203538	NM_001077639.2(NXPE4):c.1402A>C (p.Thr468Pro)	NXPE2, NXPE4 (T184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203537	NM_001077639.2(NXPE4):c.1289T>C (p.Val430Ala)	NXPE2, NXPE4 (V146A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203536	NM_001077639.2(NXPE4):c.1274G>A (p.Gly425Glu)	NXPE2, NXPE4 (G425E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203535	NM_001077639.2(NXPE4):c.1270G>A (p.Gly424Arg)	NXPE2, NXPE4 (G424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203534	NM_001077639.2(NXPE4):c.1064G>A (p.Arg355His)	NXPE2, NXPE4 (R71H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203533	NM_001077639.2(NXPE4):c.1063C>T (p.Arg355Cys)	NXPE2, NXPE4 (R71C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614217	NM_001077639.2(NXPE4):c.1055C>G (p.Ser352Cys)	NXPE2, NXPE4 (S352C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612499	NM_001077639.2(NXPE4):c.1228G>C (p.Val410Leu)	NXPE2, NXPE4 (V126L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601870	NM_001077639.2(NXPE4):c.480C>A (p.Asn160Lys)	NXPE2, NXPE4 (N160K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595980	NM_001077639.2(NXPE4):c.289G>A (p.Ala97Thr)	NXPE2, NXPE4 (A97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557279	NM_001077639.2(NXPE4):c.1232A>C (p.Lys411Thr)	NXPE2, NXPE4 (K127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540206	NM_001077639.2(NXPE4):c.46T>C (p.Phe16Leu)	NXPE2, NXPE4 (F16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533916	NM_001077639.2(NXPE4):c.1572T>G (p.Asn524Lys)	NXPE2, NXPE4 (N524K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514067	NM_001077639.2(NXPE4):c.550C>T (p.Pro184Ser)	NXPE2, NXPE4 (P184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391184	NM_001077639.2(NXPE4):c.437C>T (p.Ala146Val)	NXPE2, NXPE4 (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381423	NM_001077639.2(NXPE4):c.1075G>A (p.Glu359Lys)	NXPE2, NXPE4 (E359K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365492	NM_001077639.2(NXPE4):c.284C>T (p.Thr95Ile)	NXPE2, NXPE4 (T95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364836	NM_001077639.2(NXPE4):c.634A>G (p.Thr212Ala)	NXPE2, NXPE4 (T212A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362450	NM_001077639.2(NXPE4):c.213A>T (p.Arg71Ser)	NXPE2, NXPE4 (R71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352419	NM_001077639.2(NXPE4):c.1597G>A (p.Gly533Arg)	NXPE2, NXPE4 (G249R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343921	NM_001077639.2(NXPE4):c.329C>T (p.Thr110Met)	NXPE2, NXPE4 (T110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343196	NM_001077639.2(NXPE4):c.752G>A (p.Cys251Tyr)	NXPE2, NXPE4 (C251Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306607	NM_001077639.2(NXPE4):c.1403C>T (p.Thr468Ile)	NXPE2, NXPE4 (T184I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301076	NM_001077639.2(NXPE4):c.103T>C (p.Ser35Pro)	NXPE2, NXPE4 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275574	NM_001077639.2(NXPE4):c.1256C>T (p.Ala419Val)	NXPE2, NXPE4 (A135V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275389	NM_001077639.2(NXPE4):c.102G>C (p.Trp34Cys)	NXPE2, NXPE4 (W34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250318	NM_001077639.2(NXPE4):c.1306G>C (p.Gly436Arg)	NXPE2, NXPE4 (G436R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242087	NM_001077639.2(NXPE4):c.214A>G (p.Ile72Val)	NXPE2, NXPE4 (I72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212035	NM_001077639.2(NXPE4):c.1484A>T (p.Gln495Leu)	NXPE2, NXPE4 (Q211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212034	NM_001077639.2(NXPE4):c.1456A>G (p.Arg486Gly)	NXPE2, NXPE4 (R202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209367	NM_001077639.2(NXPE4):c.88T>C (p.Ser30Pro)	NXPE2, NXPE4 (S30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205758	NM_001077639.2(NXPE4):c.385C>T (p.Arg129Cys)	NXPE2, NXPE4 (R129C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 42