PMVK[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 1259917	NM_006556.4(PMVK):c.*48del	PMVK	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1254973	NM_006556.4(PMVK):c.*44T>G	PMVK	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2247763	NM_006556.4(PMVK):c.565C>T (p.Arg189Cys)	PMVK (R175C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 253042	NM_006556.4(PMVK):c.550del (p.Asn183_Leu184insTer)	PMVK	Deletion (nonsense)	Porokeratosis of Mibelli	GPathogenic
Select item 2296534	NM_006556.4(PMVK):c.527G>A (p.Arg176His)	PMVK (R101H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317218	NM_006556.4(PMVK):c.450C>A (p.Asp150Glu)	PMVK (D136E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215871	NM_006556.4(PMVK):c.437C>T (p.Thr146Met)	PMVK (T146M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639382	NM_006556.4(PMVK):c.436A>T (p.Thr146Ser)	PMVK (T132S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 253041	NM_006556.4(PMVK):c.412C>T (p.Arg138Ter)	PMVK (R138* +2 more)	Single nucleotide variant (nonsense)	Porokeratosis of Mibelli	GPathogenic
Select item 3062336	NM_006556.4(PMVK):c.398C>T (p.Ala133Val)	PMVK (A119V +2 more)	Single nucleotide variant (missense variant)	PMVK-associated autoinflammatory disorder	GUncertain significance
Select item 2351691	NM_006556.4(PMVK):c.391G>A (p.Val131Ile)	PMVK (V117I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236501	NM_006556.4(PMVK):c.391G>C (p.Val131Leu)	PMVK (V117L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344671	NM_006556.4(PMVK):c.379C>T (p.Gln127Ter)	PMVK (Q113* +2 more)	Single nucleotide variant (nonsense)	Linear porokeratosis	GLikely pathogenic
Select item 1180221	NM_006556.4(PMVK):c.373G>A (p.Val125Met)	PMVK (V111M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2222469	NM_006556.4(PMVK):c.355C>T (p.Arg119Trp)	PMVK (R44W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344669	NM_006556.4(PMVK):c.329G>A (p.Arg110Gln)	PMVK (R110Q +2 more)	Single nucleotide variant (missense variant)	Linear porokeratosis	GLikely pathogenic
Select item 1270881	NM_006556.4(PMVK):c.312+210ATTT[12]	PMVK	Microsatellite (intron variant)	not provided	GBenign
Select item 1257436	NM_006556.4(PMVK):c.312+210ATTT[11]	PMVK	Microsatellite (intron variant)	not provided	GBenign
Select item 377095	NM_006556.4(PMVK):c.287T>C (p.Val96Ala)	PMVK (V21A +2 more)	Single nucleotide variant (missense variant)	PMVK-related disorder +1 more	GBenign/Likely benign
Select item 2323082	NM_006556.4(PMVK):c.223G>C (p.Asp75His)	PMVK (D61H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2622769	NM_006556.4(PMVK):c.180G>T (p.Gln60His)	PMVK (Q46H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1278538	NM_006556.4(PMVK):c.147A>G (p.Glu49=)	PMVK (N14S)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 2239778	NM_006556.4(PMVK):c.104C>G (p.Ala35Gly)	PMVK (A21G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1227224	NM_006556.4(PMVK):c.96-288T>C	PMVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1049433	NM_006556.4(PMVK):c.95+166T>C	PMVK (V8A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1012741	NM_006556.4(PMVK):c.79G>T (p.Glu27Ter)	PMVK (E27*)	Single nucleotide variant (5 prime UTR variant +2 more)	Porokeratosis 1, Mibelli type +2 more	GPathogenic/Likely pathogenic
Select item 2399234	NM_006556.4(PMVK):c.31G>A (p.Val11Ile)	PMVK (V11I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3041180	NM_006556.4(PMVK):c.-8G>A	PMVK	Single nucleotide variant (5 prime UTR variant +1 more)	PMVK-related disorder	GBenign
Select item 1246024	NM_006556.3(PMVK):c.-107T>C	PMVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2685829	GRCh37/hg19 1q21.3-22(chr1:154684075-155017913)x3	CKS1B, DCST1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DAP3, MINDY1 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 46