PRAMEF6[gene] - ClinVar

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Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 153514	GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3	AADACL3, AADACL4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146143	GRCh38/hg38 1p36.22-36.21(chr1:12293275-13111197)x3	AADACL3, AADACL4 +32 more	Copy number gain	See cases	GBenign
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 147067	GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3	AADACL3, AADACL4 +21 more	Copy number gain	See cases	GBenign
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 147038	GRCh38/hg38 1p36.21(chr1:12779298-13075120)x1	HNRNPCL1, HNRNPCL3 +11 more	Copy number loss	See cases	GBenign
Select item 150407	GRCh38/hg38 1p36.21(chr1:12852720-13330100)x1	HNRNPCL2, HNRNPCL3 +17 more	Copy number loss	See cases	GLikely benign
Select item 2368354	NM_001010889.2(PRAMEF6):c.1421G>A (p.Cys474Tyr)	PRAMEF6 (C474Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327228	NM_001010889.2(PRAMEF6):c.1370G>A (p.Cys457Tyr)	PRAMEF6 (C457Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404504	NM_001010889.2(PRAMEF6):c.1228G>C (p.Val410Leu)	PRAMEF6 (V410L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2296727	NM_001010889.2(PRAMEF6):c.844G>A (p.Glu282Lys)	PRAMEF6 (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205903	NM_001010889.2(PRAMEF6):c.821C>A (p.Ser274Tyr)	PRAMEF6 (S274Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363700	NM_001010889.2(PRAMEF6):c.775C>A (p.Gln259Lys)	PRAMEF6 (Q259K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347169	NM_001010889.2(PRAMEF6):c.712G>A (p.Val238Ile)	PRAMEF6 (V238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459984	NM_001010889.2(PRAMEF6):c.664A>G (p.Thr222Ala)	PRAMEF6 (T222A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299146	NM_001010889.2(PRAMEF6):c.623A>T (p.Gln208Leu)	PRAMEF6 (Q208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309694	NM_001010889.2(PRAMEF6):c.604G>C (p.Val202Leu)	PRAMEF6 (V202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466547	NM_001010889.2(PRAMEF6):c.524A>G (p.Lys175Arg)	PRAMEF6 (K175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470222	NM_001010889.2(PRAMEF6):c.502C>A (p.Leu168Ile)	PRAMEF6 (L168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301199	NM_001010889.2(PRAMEF6):c.467A>T (p.Lys156Met)	PRAMEF6 (K156M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548413	NM_001010889.2(PRAMEF6):c.463C>G (p.Leu155Val)	PRAMEF6 (L155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309693	NM_001010889.2(PRAMEF6):c.443C>G (p.Thr148Ser)	PRAMEF6 (T148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545830	NM_001010889.2(PRAMEF6):c.434A>T (p.Gln145Leu)	PRAMEF6 (Q145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461174	NM_001010889.2(PRAMEF6):c.409G>C (p.Asp137His)	PRAMEF6 (D137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459690	NM_001010889.2(PRAMEF6):c.392A>T (p.Asn131Ile)	PRAMEF6 (N131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490160	NM_001010889.2(PRAMEF6):c.364C>G (p.Arg122Gly)	PRAMEF6 (R122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356051	NM_001010889.2(PRAMEF6):c.347G>T (p.Trp116Leu)	PRAMEF6 (W116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550904	NM_001010889.2(PRAMEF6):c.293G>T (p.Trp98Leu)	PRAMEF6 (W98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285631	NM_001010889.2(PRAMEF6):c.121A>C (p.Met41Leu)	PRAMEF6 (M41L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 395059	GRCh37/hg19 1p36.22-36.21(chr1:12357424-13187457)x3	AADACL3, AADACL4 +14 more	Copy number gain	See cases	GLikely benign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 59