ClinVar for Gene (Select 64795) - ClinVar

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

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154821	NM_022780.4(RMND5A):c.232G>A (p.Asp78Asn)	RMND5A (D78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685855	GRCh37/hg19 2p11.2(chr2:86766962-86989047)x3	CHMP3, RMND5A +2 more	Copy number gain	not provided	GUncertain significance
Select item 2471039	NM_022780.4(RMND5A):c.268G>A (p.Gly90Arg)	RMND5A (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465919	NM_022780.4(RMND5A):c.64G>C (p.Gly22Arg)	RMND5A, RNF103-CHMP3 (G22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300639	NM_022780.4(RMND5A):c.163G>C (p.Gly55Arg)	RMND5A (G55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295525	NM_022780.4(RMND5A):c.511C>G (p.Pro171Ala)	RMND5A (P171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226199	NM_022780.4(RMND5A):c.785T>C (p.Ile262Thr)	RMND5A (I262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1410487	NC_000002.11:g.(?_86067267)_(87017948_?)del	CD8A, CHMP3 +10 more	Deletion	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	REEP1, REG1A +81 more	Copy number loss	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 60182	GRCh38/hg38 2p11.2(chr2:86395172-86859284)x1	CD8A, CD8B +28 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 21