14107[HGNC] - ClinVar

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Items: 29

	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 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 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 2619747	NM_020182.5(PMEPA1):c.827G>A (p.Ser276Asn)	PMEPA1 (S226N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251646	NM_020182.5(PMEPA1):c.788A>C (p.His263Pro)	PMEPA1 (H213P +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554523	NM_020182.5(PMEPA1):c.741G>T (p.Gln247His)	PMEPA1 (Q197H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513283	NM_020182.5(PMEPA1):c.706A>G (p.Ile236Val)	PMEPA1 (I208V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326516	NM_020182.5(PMEPA1):c.548T>G (p.Val183Gly)	PMEPA1 (V148G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298189	NM_020182.5(PMEPA1):c.499C>T (p.Leu167Phe)	PMEPA1 (L167F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357103	NM_020182.5(PMEPA1):c.433G>A (p.Asp145Asn)	PMEPA1 (D145N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596697	NM_020182.5(PMEPA1):c.385C>T (p.Arg129Cys)	PMEPA1 (R101C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215800	NM_020182.5(PMEPA1):c.380G>C (p.Arg127Pro)	PMEPA1 (R92P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308028	NM_020182.5(PMEPA1):c.272G>A (p.Cys91Tyr)	PMEPA1 (C56Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215799	NM_020182.5(PMEPA1):c.262T>G (p.Ser88Ala)	PMEPA1 (S53A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312630	NM_020182.5(PMEPA1):c.53C>G (p.Pro18Arg)	PMEPA1 (P18R)	Single nucleotide variant (missense variant +1 more)	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 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
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 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 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: 29