ClinVar for Gene (Select 5203) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
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 2685647	GRCh37/hg19 20q13.2(chr20:51192560-53918272)x1	BCAS1, CYP24A1 +4 more	Copy number loss	not provided	GUncertain significance
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 2590096	NM_002623.4(PFDN4):c.83G>A (p.Arg28Gln)	PFDN4 (R28Q)	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 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	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 2525931	NM_002623.4(PFDN4):c.337G>A (p.Ala113Thr)	PFDN4 (A113T)	Single nucleotide variant (missense variant)	not specified	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
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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 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 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 20