ClinVar for Gene (Select 55544) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2541061	NM_017495.6(RBM38):c.49C>T (p.Pro17Ser)	RBM38, RBM38-AS1 (P17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472305	NM_017495.6(RBM38):c.510T>G (p.Ile170Met)	RBM38 (I170M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466095	NM_017495.6(RBM38):c.53T>C (p.Leu18Pro)	RBM38, RBM38-AS1 (L18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2461478	NM_017495.6(RBM38):c.668C>G (p.Thr223Ser)	RBM38 (T223S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219158	NM_017495.6(RBM38):c.23G>A (p.Cys8Tyr)	RBM38, RBM38-AS1 (C8Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205444	NM_017495.6(RBM38):c.388C>T (p.His130Tyr)	RBM38 (H130Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 789858	NM_017495.6(RBM38):c.62C>T (p.Pro21Leu)	RBM38, RBM38-AS1 (P21L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782630	NM_017495.6(RBM38):c.513G>A (p.Glu171=)	RBM38	Single nucleotide variant (synonymous variant +1 more)	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	KIF3B, KIZ +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	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +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	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	ANKRD60, APCDD1L +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +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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Items: 25