ClinVar for Gene (Select 140689) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3138021	NM_080617.6(CBLN4):c.473G>A (p.Arg158His)	CBLN4 (R158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138020	NM_080617.6(CBLN4):c.316T>C (p.Phe106Leu)	CBLN4 (F106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138019	NM_080617.6(CBLN4):c.269C>G (p.Thr90Arg)	CBLN4 (T90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605722	NM_080617.6(CBLN4):c.406C>A (p.Gln136Lys)	CBLN4 (Q136K)	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 2475813	NM_080617.6(CBLN4):c.281A>G (p.Tyr94Cys)	CBLN4 (Y94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324004	NM_080617.6(CBLN4):c.193C>T (p.Arg65Trp)	CBLN4 (R65W)	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 1808760	GRCh37/hg19 20q13.2(chr20:54239671-54804644)x3	CBLN4	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 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 442642	GRCh37/hg19 20q13.2-13.31(chr20:54541125-55162415)x3	AURKA, CASS4 +8 more	Copy number gain	See cases	GUncertain significance
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 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	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 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21