ClinVar for Gene (Select 1477) - ClinVar

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Links from Gene

Items: 25

	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 3078437	NM_001324.3(CSTF1):c.860A>G (p.Lys287Arg)	CSTF1 (K287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078436	NM_001324.3(CSTF1):c.82A>G (p.Ile28Val)	CSTF1 (I28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078434	NM_001324.3(CSTF1):c.107A>G (p.Asn36Ser)	CSTF1 (N36S)	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 2519228	NM_001324.3(CSTF1):c.661C>T (p.Arg221Cys)	CSTF1 (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312948	NM_001324.3(CSTF1):c.86G>A (p.Ser29Asn)	CSTF1 (S29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297127	NM_001324.3(CSTF1):c.114C>G (p.Ile38Met)	CSTF1 (I38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237726	NM_001324.3(CSTF1):c.868G>A (p.Asp290Asn)	CSTF1 (D290N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233710	NM_001324.3(CSTF1):c.760T>C (p.Ser254Pro)	CSTF1 (S254P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228836	NM_001324.3(CSTF1):c.95A>G (p.Asn32Ser)	CSTF1 (N32S)	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 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 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 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	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: 25