PSME3IP1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	CFAP20, LOC101927556 +520 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 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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 3220487	NM_024946.4(PSME3IP1):c.743A>G (p.Asn248Ser)	PSME3IP1 (N274S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220486	NM_024946.4(PSME3IP1):c.737G>A (p.Arg246Gln)	PSME3IP1 (R246Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591433	NM_024946.4(PSME3IP1):c.650C>G (p.Ala217Gly)	PSME3IP1 (A217G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220484	NM_024946.4(PSME3IP1):c.588T>A (p.Ser196Arg)	PSME3IP1 (S196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220483	NM_024946.4(PSME3IP1):c.587G>A (p.Ser196Asn)	PSME3IP1 (S196N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220482	NM_024946.4(PSME3IP1):c.571G>A (p.Gly191Arg)	PSME3IP1 (G191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489797	NM_024946.4(PSME3IP1):c.355C>T (p.Leu119Phe)	PSME3IP1 (L119F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546416	NM_024946.4(PSME3IP1):c.334C>G (p.Leu112Val)	PSME3IP1 (L112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559664	NM_024946.4(PSME3IP1):c.254A>T (p.Asp85Val)	PSME3IP1 (D111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311026	NM_024946.4(PSME3IP1):c.253G>A (p.Asp85Asn)	PSME3IP1 (D111N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311027	NM_024946.4(PSME3IP1):c.232A>G (p.Met78Val)	PSME3IP1 (M104V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220480	NM_024946.4(PSME3IP1):c.208G>A (p.Glu70Lys)	PSME3IP1 (E70K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220485	NM_024946.4(PSME3IP1):c.70C>T (p.Arg24Trp)	PSME3IP1 (R50W +1 more)	Single nucleotide variant (missense variant)	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 3243644	NC_000016.9:g.(?_56226148)_(57286179_?)del	AMFR, ARL2BP +24 more	Deletion	not provided	GPathogenic
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 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	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 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 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 more	Copy number loss	not provided	GPathogenic
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 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 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
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40