PSMA7[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 146563	GRCh38/hg38 20q13.33(chr20:62136723-62197472)x3	LOC121853018, LOC126863082 +9 more	Copy number gain	See cases	GBenign
Select item 2628348	NM_002792.4(PSMA7):c.578A>G (p.Lys193Arg)	PSMA7 (K193R)	Single nucleotide variant (missense variant)	PSMA7-related disorder	GUncertain significance
Select item 2368195	NM_002792.4(PSMA7):c.532G>T (p.Asp178Tyr)	PSMA7 (D178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220350	NM_002792.4(PSMA7):c.521A>C (p.Lys174Thr)	PSMA7 (K174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 39976	NM_002792.4(PSMA7):c.335C>A (p.Ala112Asp)	PSMA7 (A112D)	Single nucleotide variant (missense variant)	Variant of unknown significance	GUncertain significance
Select item 754641	NM_002792.4(PSMA7):c.321C>T (p.Ile107=)	PSMA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220349	NM_002792.4(PSMA7):c.254A>G (p.Asn85Ser)	PSMA7 (N85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777604	NM_002792.4(PSMA7):c.223+9C>T	PSMA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3310953	NM_002792.4(PSMA7):c.178C>T (p.Arg60Trp)	PSMA7 (R60W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564619	GRCh37/hg19 20q13.33(chr20:60691126-60920798)x3	MTG2, LAMA5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 31