8868[HGNC] - ClinVar

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Items: 20

	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 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 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 2602399	NM_002623.4(PFDN4):c.14T>C (p.Met5Thr)	PFDN4 (M5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305880	NM_002623.4(PFDN4):c.25G>C (p.Ala9Pro)	PFDN4 (A9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305879	NM_002623.4(PFDN4):c.41A>G (p.Asn14Ser)	PFDN4 (N14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590096	NM_002623.4(PFDN4):c.83G>A (p.Arg28Gln)	PFDN4 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548801	NM_002623.4(PFDN4):c.172A>C (p.Met58Leu)	PFDN4 (M58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211552	NM_002623.4(PFDN4):c.283C>A (p.Gln95Lys)	PFDN4 (Q95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589131	NM_002623.4(PFDN4):c.329G>A (p.Arg110Gln)	PFDN4 (R110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525931	NM_002623.4(PFDN4):c.337G>A (p.Ala113Thr)	PFDN4 (A113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685647	GRCh37/hg19 20q13.2(chr20:51192560-53918272)x1	BCAS1, CYP24A1 +4 more	Copy number loss	not provided	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 1809070	GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	AURKA, BCAS1 +13 more	Copy number gain	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 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: 20