PSENEN[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 3048196	NM_172341.3(PSENEN):c.-187A>G	PSENEN	Single nucleotide variant	PSENEN-related condition	GLikely benign
Select item 446483	NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter)	PSENEN (L12*)	Single nucleotide variant (nonsense)	Acne inversa, familial, 2	GPathogenic
Select item 2164812	NM_172341.4(PSENEN):c.40C>T (p.Leu14=)	PSENEN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2043928	NM_172341.4(PSENEN):c.57C>T (p.Tyr19=)	PSENEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493528	NM_172341.4(PSENEN):c.61+3A>G	PSENEN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2700970	NM_172341.4(PSENEN):c.61+10A>G	PSENEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566437	NM_172341.4(PSENEN):c.61+13_61+21del	PSENEN	Deletion (intron variant)	not provided	GLikely benign
Select item 1674624	NM_172341.4(PSENEN):c.61+14C>T	PSENEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744023	NM_172341.4(PSENEN):c.61+17G>T	PSENEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 518298	NM_172341.4(PSENEN):c.61+17G>C	PSENEN	Single nucleotide variant (intron variant)	Acne inversa, familial, 2 +1 more	GBenign
Select item 2966140	NM_172341.4(PSENEN):c.61+19G>A	PSENEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 446482	NM_172341.3(PSENEN):c.66dup	PSENEN	Duplication	Acne inversa, familial, 2	GPathogenic
Select item 446486	NM_172341.4(PSENEN):c.62-1G>C	PSENEN	Single nucleotide variant (splice acceptor variant)	Acne inversa, familial, 2	GPathogenic
Select item 30681	NM_172341.3(PSENEN):c.66del	PSENEN	Deletion	Acne inversa, familial, 2	GPathogenic
Select item 2696986	NM_172341.4(PSENEN):c.65G>A (p.Gly22Glu)	PSENEN (G22E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750175	NM_172341.4(PSENEN):c.71C>G (p.Ala24Gly)	PSENEN (A24G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374058	NM_172341.4(PSENEN):c.75C>G (p.Phe25Leu)	PSENEN (F25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989602	NM_172341.4(PSENEN):c.127C>T (p.Leu43Phe)	PSENEN (L43F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478265	NM_172341.4(PSENEN):c.137C>A (p.Ala46Asp)	PSENEN (A46D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802053	NM_172341.4(PSENEN):c.166+12G>T	PSENEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911817	NM_172341.4(PSENEN):c.167-16C>G	PSENEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974616	NM_172341.4(PSENEN):c.167-11T>C	PSENEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888424	NM_172341.4(PSENEN):c.167-4A>G	PSENEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 446485	NM_172341.4(PSENEN):c.167-2A>G	PSENEN	Single nucleotide variant (splice acceptor variant)	Acne inversa, familial, 2	GPathogenic
Select item 1045159	NM_172341.4(PSENEN):c.168T>G (p.Tyr56Ter)	PSENEN (Y56*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2812875	NM_172341.4(PSENEN):c.173G>C (p.Trp58Ser)	PSENEN (W58S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416343	NM_172341.4(PSENEN):c.175C>T (p.Arg59Cys)	PSENEN (R59C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585266	NM_172341.4(PSENEN):c.185_200del (p.Val62fs)	PSENEN (V62fs)	Deletion (frameshift variant)	Acne inversa, familial, 2	GUncertain significance
Select item 1525010	NM_172341.4(PSENEN):c.184G>A (p.Val62Met)	PSENEN (V62M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446484	NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg)	PSENEN (L65R)	Single nucleotide variant (missense variant)	Acne inversa, familial, 2	GPathogenic
Select item 2129070	NM_172341.4(PSENEN):c.195C>T (p.Leu65=)	PSENEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803544	NM_172341.4(PSENEN):c.225C>G (p.Ile75Met)	PSENEN (I75M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821589	NM_172341.4(PSENEN):c.240C>A (p.Ile80=)	PSENEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2462466	NM_172341.4(PSENEN):c.245G>A (p.Arg82Gln)	PSENEN (R82Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1455398	NM_172341.4(PSENEN):c.246G>A (p.Arg82=)	PSENEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647839	NM_172341.4(PSENEN):c.249C>T (p.Pro83=)	PSENEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985384	NM_172341.4(PSENEN):c.251G>A (p.Arg84His)	PSENEN (R84H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368598	NM_172341.4(PSENEN):c.256G>T (p.Gly86Cys)	PSENEN (G86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941708	NM_172341.4(PSENEN):c.263T>C (p.Leu88Pro)	PSENEN (L88P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30682	NM_172341.4(PSENEN):c.279del (p.Phe94fs)	PSENEN (F94fs)	Deletion (frameshift variant)	Acne inversa, familial, 2	GPathogenic
Select item 2329696	NM_172341.4(PSENEN):c.299C>A (p.Thr100Asn)	PSENEN (T100N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2036909	NM_172341.4(PSENEN):c.305G>A (p.Ter102=)	PSENEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 221541	GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3	HSPB6, IGFLR1 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221399	GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3	ARHGAP33, HSPB6 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 60