PCNX3[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	LOC130006016, LOC130006017 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 982224	NM_032223.4(PCNX3):c.229_230del (p.Val77fs)	PCNX3 (V77fs)	Deletion (frameshift variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 2235399	NM_032223.4(PCNX3):c.519T>A (p.Asn173Lys)	PCNX3 (N173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641964	NM_032223.4(PCNX3):c.1428G>A (p.Glu476=)	PCNX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213790	NM_032223.4(PCNX3):c.1906G>A (p.Ala636Thr)	PCNX3 (A636T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239302	NM_032223.4(PCNX3):c.1990T>C (p.Tyr664His)	PCNX3 (Y664H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387682	NM_032223.4(PCNX3):c.2158G>A (p.Gly720Ser)	PCNX3 (G720S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641965	NM_032223.4(PCNX3):c.2496G>A (p.Gln832=)	PCNX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384188	NM_032223.4(PCNX3):c.3022G>A (p.Val1008Met)	PCNX3 (V1008M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214497	NM_032223.4(PCNX3):c.3107C>T (p.Pro1036Leu)	PCNX3 (P1036L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253940	NM_032223.4(PCNX3):c.3149A>G (p.His1050Arg)	PCNX3 (H1050R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373986	NM_032223.4(PCNX3):c.3647G>T (p.Arg1216Leu)	PCNX3 (R1216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393654	NM_032223.4(PCNX3):c.4137C>G (p.Asp1379Glu)	PCNX3 (D1379E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349714	NM_032223.4(PCNX3):c.4535C>T (p.Thr1512Met)	PCNX3 (T1512M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249947	NM_032223.4(PCNX3):c.4660C>T (p.His1554Tyr)	PCNX3 (H1554Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217884	NM_032223.4(PCNX3):c.4691G>A (p.Arg1564Gln)	PCNX3 (R1564Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246768	NM_032223.4(PCNX3):c.5200G>A (p.Val1734Met)	PCNX3 (V1734M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399404	NM_032223.4(PCNX3):c.6052A>G (p.Ile2018Val)	PCNX3 (I2018V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380568	NM_032223.4(PCNX3):c.6071C>G (p.Pro2024Arg)	PCNX3 (P2024R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 33