PSMA8[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	LOC130062386, LOC130062387 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	LINC01900, LINC01908 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 60206	GRCh38/hg38 18q11.2(chr18:24411993-26628123)x3	LINC01894, LINC01915 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2382236	NM_001025096.2(PSMA8):c.19A>T (p.Arg7Trp)	PSMA8 (R7W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484940	NM_001025096.2(PSMA8):c.79G>A (p.Ala27Thr)	PSMA8 (A27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220355	NM_001025096.2(PSMA8):c.90A>C (p.Lys30Asn)	PSMA8 (K30N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220351	NM_001025096.2(PSMA8):c.101C>T (p.Ala34Val)	PSMA8 (A34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480966	NM_001025096.2(PSMA8):c.127G>C (p.Val43Leu)	PSMA8 (V17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599387	NM_001025096.2(PSMA8):c.170A>G (p.Asp57Gly)	PSMA8 (D31G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372583	NM_001025096.2(PSMA8):c.203A>G (p.Asp68Gly)	PSMA8 (D42G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204290	NM_001025096.2(PSMA8):c.230-4A>G	PSMA8 (I82V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3220352	NM_001025096.2(PSMA8):c.268C>T (p.Arg90Cys)	PSMA8 (R52C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350364	NM_001025096.2(PSMA8):c.269G>C (p.Arg90Pro)	PSMA8 (R96P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220353	NM_001025096.2(PSMA8):c.275A>G (p.Glu92Gly)	PSMA8 (E92G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607117	NM_001025096.2(PSMA8):c.290A>G (p.Lys97Arg)	PSMA8 (K97R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220571	NM_001025096.2(PSMA8):c.466C>G (p.His156Asp)	PSMA8 (H162D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533695	NM_001025096.2(PSMA8):c.494G>A (p.Arg165Gln)	PSMA8 (R127Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311596	NM_001025096.2(PSMA8):c.569T>C (p.Ile190Thr)	PSMA8 (I190T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615328	NM_001025096.2(PSMA8):c.581T>G (p.Ile194Arg)	PSMA8 (I168R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324324	NM_001025096.2(PSMA8):c.647A>G (p.Asn216Ser)	PSMA8 (N190S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380228	NM_001025096.2(PSMA8):c.674A>G (p.Lys225Arg)	PSMA8 (K225R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3063549	GRCh37/hg19 18q11.2(chr18:23648402-24053824)x3	KCTD1, PSMA8 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1341053	GRCh37/hg19 18q11.2-12.1(chr18:23050629-26026370)x3	AQP4, CDH2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 979688	GRCh37/hg19 18q11.2-12.1(chr18:23586307-25193192)x1	KCTD1, TAF4B +4 more	Copy number loss	not provided	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 564547	GRCh37/hg19 18q11.2(chr18:20803607-24109364)x1	HRH4, ZNF521 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 55