ClinVar for Gene (Select 116151) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277366	NM_080821.3(FAM210B):c.73C>T (p.Leu25Phe)	FAM210B, LOC130066213 (L25F)	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 3092272	NM_080821.3(FAM210B):c.65C>G (p.Ala22Gly)	FAM210B, LOC130066213 (A22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092271	NM_080821.3(FAM210B):c.64G>C (p.Ala22Pro)	FAM210B, LOC130066213 (A22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092270	NM_080821.3(FAM210B):c.524T>C (p.Ile175Thr)	FAM210B (I175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092269	NM_080821.3(FAM210B):c.182A>G (p.His61Arg)	FAM210B, LOC130066213 (H61R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599020	NM_080821.3(FAM210B):c.446C>A (p.Thr149Asn)	FAM210B (T149N)	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 2490857	NM_080821.3(FAM210B):c.401T>A (p.Phe134Tyr)	FAM210B (F134Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489206	NM_080821.3(FAM210B):c.548G>A (p.Gly183Glu)	FAM210B (G183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366486	NM_080821.3(FAM210B):c.55C>T (p.Arg19Trp)	FAM210B, LOC130066213 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307416	NM_080821.3(FAM210B):c.161C>A (p.Ala54Glu)	FAM210B, LOC130066213 (A54E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273091	NM_080821.3(FAM210B):c.118G>A (p.Ala40Thr)	FAM210B, LOC130066213 (A40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258618	NM_080821.3(FAM210B):c.146G>A (p.Arg49Gln)	FAM210B, LOC130066213 (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212069	NM_080821.3(FAM210B):c.17C>T (p.Ala6Val)	FAM210B, LOC130066213 (A6V)	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: 29