PRAMEF5[gene] - ClinVar

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Items: 52

	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 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 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 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
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 150407	GRCh38/hg38 1p36.21(chr1:12852720-13330100)x1	HNRNPCL2, HNRNPCL3 +17 more	Copy number loss	See cases	GLikely benign
Select item 2392813	NM_001013407.5(PRAMEF5):c.49C>G (p.Leu17Val)	PRAMEF5 (L17V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281258	NM_001013407.5(PRAMEF5):c.121A>C (p.Met41Leu)	PRAMEF5 (M41L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391410	NM_001013407.5(PRAMEF5):c.142C>T (p.Arg48Cys)	PRAMEF5 (R48C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258508	NM_001013407.5(PRAMEF5):c.326G>C (p.Cys109Ser)	PRAMEF5 (C109S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309691	NM_001013407.5(PRAMEF5):c.359T>C (p.Met120Thr)	PRAMEF5 (M120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380093	NM_001013407.5(PRAMEF5):c.371G>C (p.Cys124Ser)	PRAMEF5 (C124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218228	NM_001013407.5(PRAMEF5):c.392A>C (p.Asn131Thr)	PRAMEF5 (N131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320302	NM_001013407.5(PRAMEF5):c.437C>G (p.Pro146Arg)	PRAMEF5 (P146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403264	NM_001013407.5(PRAMEF5):c.451G>A (p.Val151Ile)	PRAMEF5 (V151I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245924	NM_001013407.5(PRAMEF5):c.482A>G (p.Asp161Gly)	PRAMEF5 (D161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487765	NM_001013407.5(PRAMEF5):c.524A>G (p.Lys175Arg)	PRAMEF5 (K175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342998	NM_001013407.5(PRAMEF5):c.722A>G (p.His241Arg)	PRAMEF5 (H241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309692	NM_001013407.5(PRAMEF5):c.737G>A (p.Arg246His)	PRAMEF5 (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218229	NM_001013407.5(PRAMEF5):c.803G>A (p.Cys268Tyr)	PRAMEF5 (C268Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345385	NM_001013407.5(PRAMEF5):c.958A>G (p.Ile320Val)	PRAMEF5 (I320V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345780	NM_001013407.5(PRAMEF5):c.964C>G (p.Gln322Glu)	PRAMEF5 (Q322E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391452	NM_001013407.5(PRAMEF5):c.982C>G (p.Leu328Val)	PRAMEF5 (L328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490256	NM_001013407.5(PRAMEF5):c.1026A>T (p.Gln342His)	PRAMEF5 (Q342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244051	NM_001013407.5(PRAMEF5):c.1026A>C (p.Gln342His)	PRAMEF5 (Q342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404460	NM_001013407.5(PRAMEF5):c.1234C>G (p.Leu412Val)	PRAMEF5 (L412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355336	NM_001013407.5(PRAMEF5):c.1276C>G (p.Leu426Val)	PRAMEF5 (L426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283371	NM_001013407.5(PRAMEF5):c.1357T>C (p.Phe453Leu)	PRAMEF5 (F453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226055	NM_001013407.5(PRAMEF5):c.1421G>A (p.Cys474Tyr)	PRAMEF5 (C474Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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: 52