NXPE3[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145303	GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3	CEP97, LOC101929411 +30 more	Copy number gain	See cases	GLikely benign
Select item 2344021	NM_145037.4(NXPE3):c.77A>G (p.Asn26Ser)	NXPE3 (N26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203530	NM_145037.4(NXPE3):c.158A>G (p.Gln53Arg)	NXPE3 (Q53R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203531	NM_145037.4(NXPE3):c.173G>A (p.Ser58Asn)	NXPE3 (S58N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612286	NM_145037.4(NXPE3):c.211T>C (p.Ser71Pro)	NXPE3 (S71P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517709	NM_145037.4(NXPE3):c.223C>T (p.Arg75Cys)	NXPE3 (R75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355358	NM_145037.4(NXPE3):c.307C>G (p.Pro103Ala)	NXPE3 (P103A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512721	NM_145037.4(NXPE3):c.348C>A (p.Phe116Leu)	NXPE3 (F116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301731	NM_145037.4(NXPE3):c.406C>A (p.Pro136Thr)	NXPE3 (P136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550382	NM_145037.4(NXPE3):c.406C>G (p.Pro136Ala)	NXPE3 (P136A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527357	NM_145037.4(NXPE3):c.436G>C (p.Ala146Pro)	NXPE3 (A146P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 208920	NM_145037.4(NXPE3):c.452_459del (p.Leu151fs)	NXPE3 (L151fs)	Deletion (frameshift variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208921	NM_145037.4(NXPE3):c.463del (p.Ala155fs)	NXPE3 (A155fs)	Deletion (frameshift variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 3203532	NM_145037.4(NXPE3):c.494A>G (p.Gln165Arg)	NXPE3 (Q165R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301732	NM_145037.4(NXPE3):c.604G>C (p.Glu202Gln)	NXPE3 (E202Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280683	NM_145037.4(NXPE3):c.619A>G (p.Arg207Gly)	NXPE3 (R207G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296221	NM_145037.4(NXPE3):c.622G>A (p.Val208Ile)	NXPE3 (V208I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530215	NM_145037.4(NXPE3):c.757A>C (p.Lys253Gln)	NXPE3 (K253Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402025	NM_145037.4(NXPE3):c.757A>G (p.Lys253Glu)	NXPE3 (K253E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301734	NM_145037.4(NXPE3):c.767C>G (p.Pro256Arg)	NXPE3 (P256R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488132	NM_145037.4(NXPE3):c.779G>C (p.Arg260Thr)	NXPE3 (R260T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373474	NM_145037.4(NXPE3):c.792C>G (p.Phe264Leu)	NXPE3 (F264L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 208922	NM_145037.4(NXPE3):c.956G>C (p.Gly319Ala)	NXPE3 (G319A)	Single nucleotide variant (missense variant +2 more)	Abnormality of neuronal migration	GBenign
Select item 2294419	NM_145037.4(NXPE3):c.1199A>G (p.Asn400Ser)	NXPE3 (N400S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358584	NM_145037.4(NXPE3):c.1217G>T (p.Arg406Leu)	NXPE3 (R406L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262307	NM_145037.4(NXPE3):c.1237C>T (p.Arg413Cys)	NXPE3 (R344C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613607	NM_145037.4(NXPE3):c.1268A>G (p.His423Arg)	NXPE3 (H423R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3203527	NM_145037.4(NXPE3):c.1318G>A (p.Val440Ile)	NXPE3 (V371I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203528	NM_145037.4(NXPE3):c.1372C>T (p.Arg458Trp)	NXPE3 (R458W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208095	NM_145037.4(NXPE3):c.1376G>A (p.Arg459Gln)	NXPE3 (R390Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406855	NM_145037.4(NXPE3):c.1391G>C (p.Arg464Pro)	NXPE3 (R395P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203529	NM_145037.4(NXPE3):c.1525C>G (p.Leu509Val)	NXPE3 (L509V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301733	NM_145037.4(NXPE3):c.1606C>A (p.Leu536Met)	NXPE3 (L536M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527033	GRCh37/hg19 3q12.3(chr3:101191611-101938521)	CEP97, NFKBIZ +6 more	Copy number gain	not specified	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 44