CAPNS2[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 2595044	NM_032330.3(CAPNS2):c.4T>A (p.Phe2Ile)	CAPNS2, LPCAT2 (F2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137211	NM_032330.3(CAPNS2):c.28G>A (p.Gly10Arg)	CAPNS2, LPCAT2 (G10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265395	NM_032330.3(CAPNS2):c.41G>A (p.Gly14Asp)	CAPNS2, LPCAT2 (G14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137212	NM_032330.3(CAPNS2):c.53C>T (p.Ala18Val)	CAPNS2, LPCAT2 (A18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595656	NM_032330.3(CAPNS2):c.170C>T (p.Thr57Ile)	CAPNS2, LPCAT2 (T57I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490538	NM_032330.3(CAPNS2):c.170C>G (p.Thr57Ser)	CAPNS2, LPCAT2 (T57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137209	NM_032330.3(CAPNS2):c.178C>T (p.Pro60Ser)	CAPNS2, LPCAT2 (P60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263248	NM_032330.3(CAPNS2):c.197A>G (p.His66Arg)	CAPNS2, LPCAT2 (H66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137210	NM_032330.3(CAPNS2):c.229G>C (p.Glu77Gln)	CAPNS2, LPCAT2 (E77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263246	NM_032330.3(CAPNS2):c.244C>T (p.Arg82Trp)	CAPNS2, LPCAT2 (R82W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213435	NM_032330.3(CAPNS2):c.374G>A (p.Arg125Gln)	CAPNS2, LPCAT2 (R125Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263247	NM_032330.3(CAPNS2):c.395A>G (p.Asp132Gly)	CAPNS2, LPCAT2 (D132G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526248	NM_032330.3(CAPNS2):c.397A>G (p.Ser133Gly)	CAPNS2, LPCAT2 (S133G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218381	NM_032330.3(CAPNS2):c.453C>G (p.Ile151Met)	CAPNS2, LPCAT2 (I151M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137213	NM_032330.3(CAPNS2):c.547T>G (p.Phe183Val)	CAPNS2, LPCAT2 (F183V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292500	NM_032330.3(CAPNS2):c.692A>T (p.Asp231Val)	CAPNS2, LPCAT2 (D231V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263250	NM_032330.3(CAPNS2):c.736A>G (p.Met246Val)	CAPNS2, LPCAT2 (M246V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1705883	GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1	AMFR, CAPNS2 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 39