ClinVar for Gene (Select 22990) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210392	NM_014982.3(PCNX1):c.3817G>T (p.Gly1273Cys)	PCNX1 (G1162C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210391	NM_014982.3(PCNX1):c.1783A>C (p.Ile595Leu)	PCNX1 (I595L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644352	NM_014982.3(PCNX1):c.4339-21G>C	PCNX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644351	NM_014982.3(PCNX1):c.762T>G (p.Ser254=)	PCNX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644350	NM_014982.3(PCNX1):c.694T>C (p.Leu232=)	PCNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644349	NM_014982.3(PCNX1):c.304C>G (p.Arg102Gly)	PCNX1 (R102G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644348	NM_014982.3(PCNX1):c.51C>T (p.Leu17=)	LOC130056009, PCNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412001	NM_014982.3(PCNX1):c.12G>C (p.Gln4His)	LOC130056009, PCNX1 (Q4H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394841	NM_014982.3(PCNX1):c.1739A>G (p.Tyr580Cys)	PCNX1 (Y580C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372969	NM_014982.3(PCNX1):c.923G>A (p.Arg308His)	PCNX1 (R308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372761	NM_014982.3(PCNX1):c.3902G>T (p.Gly1301Val)	PCNX1 (G1301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370451	NM_014982.3(PCNX1):c.4361T>G (p.Leu1454Trp)	PCNX1 (L1343W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362920	NM_014982.3(PCNX1):c.5201A>G (p.Asn1734Ser)	LOC126861988, PCNX1 (N1734S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350318	NM_014982.3(PCNX1):c.761C>G (p.Ser254Cys)	PCNX1 (S254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285840	NM_014982.3(PCNX1):c.1373C>T (p.Ala458Val)	PCNX1 (A458V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260959	NM_014982.3(PCNX1):c.2179G>C (p.Glu727Gln)	PCNX1 (E727Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260314	NM_014982.3(PCNX1):c.2017C>T (p.Arg673Cys)	PCNX1 (R673C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260061	NM_014982.3(PCNX1):c.3899T>C (p.Val1300Ala)	PCNX1 (V1189A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259143	NM_014982.3(PCNX1):c.3844A>G (p.Ser1282Gly)	PCNX1 (S1171G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258011	NM_014982.3(PCNX1):c.2437C>T (p.Pro813Ser)	PCNX1 (P813S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256508	NM_014982.3(PCNX1):c.3574C>G (p.Gln1192Glu)	PCNX1 (Q1192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247629	NM_014982.3(PCNX1):c.229G>A (p.Val77Ile)	PCNX1 (V77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232706	NM_014982.3(PCNX1):c.5752G>C (p.Asp1918His)	PCNX1 (D1807H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223728	NM_014982.3(PCNX1):c.2647C>G (p.Leu883Val)	PCNX1 (L777V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208999	NM_014982.3(PCNX1):c.5532G>A (p.Met1844Ile)	PCNX1 (M1844I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340921	GRCh37/hg19 14q24.2(chr14:71415706-71716923)x3	PCNX1	Copy number gain	not provided	GLikely benign
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 790146	NM_014982.3(PCNX1):c.6710A>G (p.His2237Arg)	PCNX1 (H2126R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788802	NM_014982.3(PCNX1):c.1412C>G (p.Thr471Ser)	PCNX1 (T471S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787719	NM_014982.3(PCNX1):c.2345G>A (p.Arg782His)	PCNX1 (R782H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 785466	NM_014982.3(PCNX1):c.4448-4A>C	PCNX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776847	NM_014982.3(PCNX1):c.2202A>G (p.Leu734=)	PCNX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768660	NM_014982.3(PCNX1):c.2016G>A (p.Lys672=)	PCNX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 755384	NM_014982.3(PCNX1):c.5133G>A (p.Ser1711=)	LOC126861988, PCNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720687	NM_014982.3(PCNX1):c.4305G>C (p.Leu1435Phe)	PCNX1 (L1435F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718355	NM_014982.3(PCNX1):c.651C>T (p.Ser217=)	PCNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716007	NM_014982.3(PCNX1):c.1347T>C (p.Thr449=)	PCNX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715050	NM_014982.3(PCNX1):c.2422T>C (p.Leu808=)	PCNX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 714580	NM_014982.3(PCNX1):c.233A>C (p.Asn78Thr)	PCNX1 (N78T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708820	NM_014982.3(PCNX1):c.6075C>T (p.Phe2025=)	PCNX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687445	GRCh37/hg19 14q24.2(chr14:71206597-71690700)x3	MAP3K9, PCNX1	Copy number gain	not provided	GUncertain significance
Select item 564119	GRCh37/hg19 14q24.2(chr14:71209177-71694949)x3	PCNX1, MAP3K9	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 161686	NM_014982.3(PCNX1):c.3049G>T (p.Ala1017Ser)	PCNX1 (A1017S +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 147390	GRCh38/hg38 14q24.2(chr14:70752460-72490693)x3	LOC111811966, LOC121529652 +48 more	Copy number gain	See cases	GUncertain significance
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 52