16173[HGNC] - ClinVar

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Items: 35

	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 146370	GRCh38/hg38 20q13.2(chr20:54402662-55795897)x1	DOK5, LINC01440 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2341121	NM_018431.5(DOK5):c.100G>A (p.Ala34Thr)	DOK5 (A34T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2599743	NM_018431.5(DOK5):c.317T>C (p.Val106Ala)	DOK5 (V106A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214797	NM_018431.5(DOK5):c.494G>A (p.Cys165Tyr)	DOK5 (C165Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564687	NM_018431.5(DOK5):c.524A>G (p.Lys175Arg)	DOK5 (K67R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409691	NM_018431.5(DOK5):c.538C>T (p.Pro180Ser)	DOK5 (P180S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272585	NM_018431.5(DOK5):c.554G>A (p.Arg185Gln)	DOK5 (R185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085192	NM_018431.5(DOK5):c.556C>T (p.Arg186Trp)	DOK5 (R78W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085193	NM_018431.5(DOK5):c.557G>A (p.Arg186Gln)	DOK5 (R186Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273462	NM_018431.5(DOK5):c.571A>G (p.Thr191Ala)	DOK5 (T191A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273463	NM_018431.5(DOK5):c.572C>A (p.Thr191Asn)	DOK5 (T83N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2303446	NM_018431.5(DOK5):c.646G>A (p.Gly216Arg)	DOK5 (G108R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289119	NM_018431.5(DOK5):c.671A>G (p.His224Arg)	DOK5 (H224R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598055	NM_018431.5(DOK5):c.721G>A (p.Val241Met)	DOK5 (V241M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314824	NM_018431.5(DOK5):c.736C>T (p.Leu246Phe)	DOK5 (L246F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337379	NM_018431.5(DOK5):c.757C>T (p.Arg253Trp)	DOK5 (R145W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553668	NM_018431.5(DOK5):c.810G>C (p.Gln270His)	DOK5 (Q270H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085196	NM_018431.5(DOK5):c.833C>T (p.Thr278Met)	DOK5 (T278M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520201	NM_018431.5(DOK5):c.840G>C (p.Gln280His)	DOK5 (Q172H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592211	NM_018431.5(DOK5):c.878T>G (p.Leu293Arg)	DOK5 (L185R +1 more)	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 979734	GRCh37/hg19 20q13.2(chr20:53190283-53248038)x1	DOK5	Copy number loss	not provided	GUncertain significance
Select item 687937	GRCh37/hg19 20q13.2(chr20:53211479-53257950)x1	DOK5	Copy number loss	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: 35