PRAMEF2[gene] - ClinVar - NCBI

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	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 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 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 146647	GRCh38/hg38 1p36.21(chr1:12800662-12858960)x1	HNRNPCL1, LINC01784 +2 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 2638268	NM_023014.1(PRAMEF2):c.21G>C (p.Pro7=)	PRAMEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513557	NM_023014.1(PRAMEF2):c.47G>C (p.Ser16Thr)	PRAMEF2 (S16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025848	NM_023014.1(PRAMEF2):c.48C>T (p.Ser16=)	PRAMEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282382	NM_023014.1(PRAMEF2):c.48C>A (p.Ser16Arg)	PRAMEF2 (S16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218199	NM_023014.1(PRAMEF2):c.52C>A (p.Leu18Met)	PRAMEF2 (L18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025842	NM_023014.1(PRAMEF2):c.81C>T (p.Ala27=)	PRAMEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025843	NM_023014.1(PRAMEF2):c.82A>G (p.Met28Val)	PRAMEF2 (M28V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3424496	NM_023014.1(PRAMEF2):c.128C>T (p.Ala43Val)	PRAMEF2 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309683	NM_023014.1(PRAMEF2):c.194C>T (p.Pro65Leu)	LOC126805622, PRAMEF2 (P65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3424502	NM_023014.1(PRAMEF2):c.215C>A (p.Thr72Lys)	LOC126805622, PRAMEF2 (T72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638269	NM_023014.1(PRAMEF2):c.314T>A (p.Leu105Ter)	LOC126805622, PRAMEF2 (L105*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2460100	NM_023014.1(PRAMEF2):c.316C>T (p.Arg106Trp)	LOC126805622, PRAMEF2 (R106W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218195	NM_023014.1(PRAMEF2):c.317G>A (p.Arg106Gln)	LOC126805622, PRAMEF2 (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356159	NM_023014.1(PRAMEF2):c.319G>T (p.Asp107Tyr)	LOC126805622, PRAMEF2 (D107Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269636	NM_023014.1(PRAMEF2):c.321T>A (p.Asp107Glu)	LOC126805622, PRAMEF2 (D107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3424493	NM_023014.1(PRAMEF2):c.344G>T (p.Arg115Ile)	LOC126805622, PRAMEF2 (R115I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3025679	NM_023014.1(PRAMEF2):c.349C>T (p.Pro117Ser)	LOC126805622, PRAMEF2 (P117S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025684	NM_023014.1(PRAMEF2):c.350C>G (p.Pro117Arg)	LOC126805622, PRAMEF2 (P117R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025685	NM_023014.1(PRAMEF2):c.355G>T (p.Ala119Ser)	LOC126805622, PRAMEF2 (A119S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025698	NM_023014.1(PRAMEF2):c.358T>A (p.Trp120Arg)	LOC126805622, PRAMEF2 (W120R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025476	NM_023014.1(PRAMEF2):c.366G>T (p.Leu122=)	LOC126805622, PRAMEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025422	NM_023014.1(PRAMEF2):c.374T>C (p.Phe125Ser)	LOC126805622, PRAMEF2 (F125S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3025217	NM_023014.1(PRAMEF2):c.382G>A (p.Ala128Thr)	LOC126805622, PRAMEF2 (A128T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2515629	NM_023014.1(PRAMEF2):c.389G>A (p.Ser130Asn)	LOC126805622, PRAMEF2 (S130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218197	NM_023014.1(PRAMEF2):c.394A>G (p.Arg132Gly)	PRAMEF2, LOC126805622 (R132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025382	NM_023014.1(PRAMEF2):c.412T>C (p.Cys138Arg)	LOC126805622, PRAMEF2 (C138R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3424498	NM_023014.1(PRAMEF2):c.419G>T (p.Arg140Met)	LOC126805622, PRAMEF2 (R140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218198	NM_023014.1(PRAMEF2):c.420G>T (p.Arg140Ser)	PRAMEF2, LOC126805622 (R140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025331	NM_023014.1(PRAMEF2):c.421A>G (p.Thr141Ala)	LOC126805622, PRAMEF2 (T141A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2534975	NM_023014.1(PRAMEF2):c.422C>A (p.Thr141Lys)	LOC126805622, PRAMEF2 (T141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025196	NM_023014.1(PRAMEF2):c.423G>A (p.Thr141=)	LOC126805622, PRAMEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309682	NM_023014.1(PRAMEF2):c.427G>C (p.Glu143Gln)	LOC126805622, PRAMEF2 (E143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025332	NM_023014.1(PRAMEF2):c.441A>G (p.Leu147=)	LOC126805622, PRAMEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025333	NM_023014.1(PRAMEF2):c.448T>C (p.Phe150Leu)	LOC126805622, PRAMEF2 (F150L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025334	NM_023014.1(PRAMEF2):c.457A>C (p.Ile153Leu)	LOC126805622, PRAMEF2 (I153L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3309684	NM_023014.1(PRAMEF2):c.499C>A (p.Leu167Ile)	LOC126805622, PRAMEF2 (L167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025319	NM_023014.1(PRAMEF2):c.553C>T (p.Leu185=)	LOC126805622, PRAMEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025320	NM_023014.1(PRAMEF2):c.558C>G (p.Val186=)	LOC126805622, PRAMEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3424501	NM_023014.1(PRAMEF2):c.560A>C (p.Asn187Thr)	LOC126805622, PRAMEF2 (N187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025318	NM_023014.1(PRAMEF2):c.560A>G (p.Asn187Ser)	LOC126805622, PRAMEF2 (N187S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2299895	NM_023014.1(PRAMEF2):c.591G>C (p.Lys197Asn)	LOC126805622, PRAMEF2 (K197N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309679	NM_023014.1(PRAMEF2):c.602T>C (p.Ile201Thr)	LOC126805622, PRAMEF2 (I201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218201	NM_023014.1(PRAMEF2):c.608A>G (p.Tyr203Cys)	LOC126805622, PRAMEF2 (Y203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259756	NM_023014.1(PRAMEF2):c.614A>G (p.Asn205Ser)	LOC126805622, PRAMEF2 (N205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345532	NM_023014.1(PRAMEF2):c.629T>G (p.Leu210Arg)	LOC126805622, PRAMEF2 (L210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3424504	NM_023014.1(PRAMEF2):c.670C>A (p.Leu224Ile)	LOC126805622, PRAMEF2 (L224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309680	NM_023014.1(PRAMEF2):c.670C>G (p.Leu224Val)	LOC126805622, PRAMEF2 (L224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289005	NM_023014.1(PRAMEF2):c.712G>A (p.Val238Ile)	LOC126805622, PRAMEF2 (V238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377969	NM_023014.1(PRAMEF2):c.713T>G (p.Val238Gly)	LOC126805622, PRAMEF2 (V238G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541492	NM_023014.1(PRAMEF2):c.737C>G (p.Thr246Arg)	LOC126805622, PRAMEF2 (T246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357383	NM_023014.1(PRAMEF2):c.754G>C (p.Glu252Gln)	LOC126805622, PRAMEF2 (E252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3424495	NM_023014.1(PRAMEF2):c.793A>G (p.Arg265Gly)	LOC126805622, PRAMEF2 (R265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606674	NM_023014.1(PRAMEF2):c.797T>C (p.Leu266Pro)	LOC126805622, PRAMEF2 (L266P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371290	NM_023014.1(PRAMEF2):c.831C>G (p.Ile277Met)	LOC126805622, PRAMEF2 (I277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543594	NM_023014.1(PRAMEF2):c.833C>T (p.Thr278Ile)	LOC126805622, PRAMEF2 (T278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347394	NM_023014.1(PRAMEF2):c.833C>A (p.Thr278Asn)	LOC126805622, PRAMEF2 (T278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218203	NM_023014.1(PRAMEF2):c.848A>G (p.His283Arg)	LOC126805622, PRAMEF2 (H283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638270	NM_023014.1(PRAMEF2):c.866+363G>C	PRAMEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2258209	NM_023014.1(PRAMEF2):c.912C>A (p.Asn304Lys)	PRAMEF2 (N304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295826	NM_023014.1(PRAMEF2):c.953G>A (p.Ser318Asn)	PRAMEF2 (S318N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267599	NM_023014.1(PRAMEF2):c.959G>A (p.Gly320Asp)	PRAMEF2 (G320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324578	NM_023014.1(PRAMEF2):c.989T>G (p.Val330Gly)	PRAMEF2 (V330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275029	NM_023014.1(PRAMEF2):c.1001G>A (p.Arg334His)	PRAMEF2 (R334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218192	NM_023014.1(PRAMEF2):c.1003A>C (p.Ile335Leu)	PRAMEF2 (I335L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218193	NM_023014.1(PRAMEF2):c.1012G>C (p.Glu338Gln)	PRAMEF2 (E338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334319	NM_023014.1(PRAMEF2):c.1033G>A (p.Glu345Lys)	PRAMEF2 (E345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3424499	NM_023014.1(PRAMEF2):c.1040T>C (p.Ile347Thr)	PRAMEF2 (I347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218194	NM_023014.1(PRAMEF2):c.1088A>G (p.Tyr363Cys)	PRAMEF2 (Y363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306515	NM_023014.1(PRAMEF2):c.1103C>T (p.Ala368Val)	PRAMEF2 (A368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403340	NM_023014.1(PRAMEF2):c.1123T>C (p.Cys375Arg)	PRAMEF2 (C375R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2621780	NM_023014.1(PRAMEF2):c.1139C>A (p.Thr380Asn)	PRAMEF2 (T380N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460197	NM_023014.1(PRAMEF2):c.1169C>T (p.Ser390Phe)	PRAMEF2 (S390F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478795	NM_023014.1(PRAMEF2):c.1175A>G (p.Asp392Gly)	PRAMEF2 (D392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212079	NM_023014.1(PRAMEF2):c.1193T>A (p.Leu398Gln)	PRAMEF2 (L398Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628010	NM_023014.1(PRAMEF2):c.1195C>T (p.Arg399Cys)	PRAMEF2 (R399C)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2512792	NM_023014.1(PRAMEF2):c.1199A>G (p.His400Arg)	PRAMEF2 (H400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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