ClinVar for Gene (Select 8480) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312537	NM_003610.4(RAE1):c.943G>C (p.Asp315His)	RAE1 (D315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312536	NM_003610.4(RAE1):c.363A>G (p.Ile121Met)	RAE1 (I121M)	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 3217804	NM_003610.4(RAE1):c.288+2453C>G	MTRNR2L3, RAE1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3217798	NM_003610.4(RAE1):c.288+2479C>T	MTRNR2L3, RAE1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3151161	NM_003610.4(RAE1):c.535A>G (p.Ile179Val)	RAE1 (I179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151160	NM_003610.4(RAE1):c.532G>A (p.Val178Met)	RAE1 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151159	NM_003610.4(RAE1):c.397A>G (p.Ile133Val)	RAE1 (I133V)	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 2538997	NM_003610.4(RAE1):c.1034A>G (p.Tyr345Cys)	RAE1 (Y345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518063	NM_003610.4(RAE1):c.288+2455A>G	MTRNR2L3, RAE1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2466679	NM_003610.4(RAE1):c.288+2455A>T	MTRNR2L3, RAE1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2465026	NM_003610.4(RAE1):c.288+2444C>T	MTRNR2L3, RAE1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2462799	NM_003610.4(RAE1):c.110C>G (p.Ser37Cys)	RAE1 (S37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391807	NM_003610.4(RAE1):c.288+2434C>T	MTRNR2L3, RAE1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2384654	NM_003610.4(RAE1):c.288+2497G>T	MTRNR2L3, RAE1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2384653	NM_003610.4(RAE1):c.288+2498C>T	MTRNR2L3, RAE1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2380257	NM_003610.4(RAE1):c.737A>G (p.Asn246Ser)	RAE1 (N246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315998	NM_003610.4(RAE1):c.94A>G (p.Ile32Val)	RAE1 (I32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244164	NM_003610.4(RAE1):c.74A>G (p.Asn25Ser)	RAE1 (N25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
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 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 713392	NM_003610.4(RAE1):c.91-8T>G	RAE1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
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 91952	NM_003610.4(RAE1):c.408C>G (p.Ile136Met)	RAE1 (I136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 59979	GRCh38/hg38 20q13.31(chr20:57137573-57378043)x1	BMP7, BMP7-AS1 +9 more	Copy number loss	See cases	GUncertain significance
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 59000	GRCh38/hg38 20q13.31(chr20:56929154-57422442)x3	BMP7, BMP7-AS1 +20 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 39