ClinVar for Gene (Select 84269) - ClinVar

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

Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144070	NM_032309.4(CHCHD5):c.214A>C (p.Asn72His)	CHCHD5 (N72H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144069	NM_032309.4(CHCHD5):c.128A>G (p.Gln43Arg)	CHCHD5 (Q43R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3144068	NM_032309.4(CHCHD5):c.118A>G (p.Ser40Gly)	CHCHD5 (S40G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2600916	NM_032309.4(CHCHD5):c.260T>G (p.Leu87Arg)	CHCHD5 (L49R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477965	NM_032309.4(CHCHD5):c.250C>T (p.Arg84Cys)	CHCHD5 (R84C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320523	NM_032309.4(CHCHD5):c.266G>T (p.Cys89Phe)	CHCHD5 (C89F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255660	NM_032309.4(CHCHD5):c.284C>T (p.Pro95Leu)	CHCHD5 (P95L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2208555	NM_032309.4(CHCHD5):c.94C>T (p.Arg32Trp)	CHCHD5 (R32W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341214	GRCh37/hg19 2q13(chr2:113295194-114085649)x3	CHCHD5, CKAP2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 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: 22