PRAMEF11[gene] - ClinVar

Search results

Items: 97

	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 2338906	NM_001146344.3(PRAMEF11):c.1433G>A (p.Cys478Tyr)	PRAMEF11 (C478Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309674	NM_001146344.3(PRAMEF11):c.1420G>T (p.Asp474Tyr)	PRAMEF11 (D474Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607467	NM_001146344.3(PRAMEF11):c.1385A>C (p.Asp462Ala)	PRAMEF11 (D462A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294815	NM_001146344.3(PRAMEF11):c.1379G>T (p.Cys460Phe)	PRAMEF11 (C460F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376597	NM_001146344.3(PRAMEF11):c.1362G>C (p.Leu454Phe)	PRAMEF11 (L454F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218153	NM_001146344.3(PRAMEF11):c.1307T>C (p.Ile436Thr)	PRAMEF11 (I436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289359	NM_001146344.3(PRAMEF11):c.1300G>C (p.Ala434Pro)	PRAMEF11 (A434P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309668	NM_001146344.3(PRAMEF11):c.1292G>C (p.Ser431Thr)	PRAMEF11 (S431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218152	NM_001146344.3(PRAMEF11):c.1288T>C (p.Trp430Arg)	PRAMEF11 (W430R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392289	NM_001146344.3(PRAMEF11):c.1268G>A (p.Gly423Asp)	PRAMEF11 (G423D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594195	NM_001146344.3(PRAMEF11):c.1244A>T (p.Tyr415Phe)	PRAMEF11 (Y415F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218151	NM_001146344.3(PRAMEF11):c.1223A>G (p.Lys408Arg)	PRAMEF11 (K408R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252586	NM_001146344.3(PRAMEF11):c.1136G>A (p.Cys379Tyr)	PRAMEF11 (C379Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309671	NM_001146344.3(PRAMEF11):c.1135T>C (p.Cys379Arg)	PRAMEF11 (C379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218162	NM_001146344.3(PRAMEF11):c.1121C>G (p.Pro374Arg)	PRAMEF11 (P374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344325	NM_001146344.3(PRAMEF11):c.1114A>T (p.Ile372Phe)	PRAMEF11 (I372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237911	NM_001146344.3(PRAMEF11):c.1111G>A (p.Ala371Thr)	PRAMEF11 (A371T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309673	NM_001146344.3(PRAMEF11):c.1091T>C (p.Ile364Thr)	PRAMEF11 (I364T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218446	NM_001146344.3(PRAMEF11):c.1078G>T (p.Asp360Tyr)	PRAMEF11 (D360Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233000	NM_001146344.3(PRAMEF11):c.1055C>T (p.Ala352Val)	PRAMEF11 (A352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345505	NM_001146344.3(PRAMEF11):c.1037T>C (p.Leu346Pro)	PRAMEF11 (L346P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638262	NM_001146344.3(PRAMEF11):c.1014C>T (p.Tyr338=)	PRAMEF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218161	NM_001146344.3(PRAMEF11):c.1010A>G (p.Asn337Ser)	PRAMEF11 (N337S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509676	NM_001146344.3(PRAMEF11):c.874A>G (p.Ser292Gly)	PRAMEF11 (S292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603594	NM_001146344.3(PRAMEF11):c.838G>C (p.Val280Leu)	PRAMEF11 (V280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218157	NM_001146344.3(PRAMEF11):c.759G>T (p.Glu253Asp)	PRAMEF11 (E253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309666	NM_001146344.3(PRAMEF11):c.718G>A (p.Val240Ile)	PRAMEF11 (V240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316032	NM_001146344.3(PRAMEF11):c.679A>G (p.Thr227Ala)	PRAMEF11 (T227A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556885	NM_001146344.3(PRAMEF11):c.662C>G (p.Pro221Arg)	PRAMEF11 (P221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353649	NM_001146344.3(PRAMEF11):c.655A>G (p.Ile219Val)	PRAMEF11 (I219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250471	NM_001146344.3(PRAMEF11):c.641T>C (p.Val214Ala)	PRAMEF11 (V214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602986	NM_001146344.3(PRAMEF11):c.609G>C (p.Met203Ile)	PRAMEF11 (M203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234173	NM_001146344.3(PRAMEF11):c.584G>A (p.Arg195His)	PRAMEF11 (R195H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2270879	NM_001146344.3(PRAMEF11):c.559C>G (p.Leu187Val)	PRAMEF11 (L187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217669	NM_001146344.3(PRAMEF11):c.526A>G (p.Arg176Gly)	PRAMEF11 (R176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365645	NM_001146344.3(PRAMEF11):c.503G>A (p.Cys168Tyr)	PRAMEF11 (C168Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366272	NM_001146344.3(PRAMEF11):c.493T>C (p.Tyr165His)	PRAMEF11 (Y165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384497	NM_001146344.3(PRAMEF11):c.436C>T (p.Arg146Trp)	PRAMEF11 (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253446	NM_001146344.3(PRAMEF11):c.419G>A (p.Cys140Tyr)	PRAMEF11 (C140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241205	NM_001146344.3(PRAMEF11):c.399C>A (p.Asn133Lys)	PRAMEF11 (N133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296910	NM_001146344.3(PRAMEF11):c.379T>C (p.Phe127Leu)	PRAMEF11 (F127L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218156	NM_001146344.3(PRAMEF11):c.366G>T (p.Met122Ile)	PRAMEF11 (M122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218155	NM_001146344.3(PRAMEF11):c.319T>G (p.Leu107Val)	PRAMEF11 (L107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218154	NM_001146344.3(PRAMEF11):c.314T>C (p.Leu105Pro)	PRAMEF11 (L105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234145	NM_001146344.3(PRAMEF11):c.297A>G (p.Arg99=)	PRAMEF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309667	NM_001146344.3(PRAMEF11):c.290C>A (p.Pro97His)	PRAMEF11 (P97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522419	NM_001146344.3(PRAMEF11):c.290C>T (p.Pro97Leu)	PRAMEF11 (P97L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309669	NM_001146344.3(PRAMEF11):c.287G>C (p.Arg96Pro)	PRAMEF11 (R96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316498	NM_001146344.3(PRAMEF11):c.265G>A (p.Ala89Thr)	PRAMEF11 (A89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218150	NM_001146344.3(PRAMEF11):c.232G>A (p.Glu78Lys)	PRAMEF11 (E78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218160	NM_001146344.3(PRAMEF11):c.193C>T (p.Arg65Cys)	PRAMEF11 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218159	NM_001146344.3(PRAMEF11):c.191G>A (p.Arg64His)	PRAMEF11 (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309672	NM_001146344.3(PRAMEF11):c.148C>A (p.Arg50Ser)	PRAMEF11 (R50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638263	NM_001146344.3(PRAMEF11):c.120A>C (p.Pro40=)	PRAMEF11	Single nucleotide variant (synonymous variant)	not provided	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 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	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 980396	GRCh37/hg19 1p36.22-36.21(chr1:12690931-12910728)x4	HNRNPCL1, PRAMEF11 +5 more	Copy number gain	not provided	GUncertain significance
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 599310	Single allele	AADACL3, AADACL4 +11 more	Deletion	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	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 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
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
Select item 156728	CM000663.1:g.12880153_12913896del	HNRNPCL1, PRAMEF11	Deletion	Large for gestational age	Gnot provided

ClinVar

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Items: 97