15818[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
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 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
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 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
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 59000	GRCh38/hg38 20q13.31(chr20:56929154-57422442)x3	BMP7, BMP7-AS1 +20 more	Copy number gain	See cases	GUncertain significance
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 2219158	NM_017495.6(RBM38):c.23G>A (p.Cys8Tyr)	RBM38, RBM38-AS1 (C8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541061	NM_017495.6(RBM38):c.49C>T (p.Pro17Ser)	RBM38, RBM38-AS1 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466095	NM_017495.6(RBM38):c.53T>C (p.Leu18Pro)	RBM38, RBM38-AS1 (L18P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3152342	NM_017495.6(RBM38):c.158A>G (p.Tyr53Cys)	RBM38, RBM38-AS1 (Y53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152343	NM_017495.6(RBM38):c.320A>G (p.Asn107Ser)	RBM38, RBM38-AS1 (N107S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
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 3152344	NM_017495.6(RBM38):c.565C>G (p.Gln189Glu)	RBM38 (Q221E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152345	NM_017495.6(RBM38):c.614A>G (p.Tyr205Cys)	RBM38 (Y205C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461478	NM_017495.6(RBM38):c.668C>G (p.Thr223Ser)	RBM38 (T223S +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30