CHCHD5[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3266817	NM_032309.4(CHCHD5):c.180G>T (p.Gln60His)	CHCHD5 (Q60H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 3266816	NM_032309.4(CHCHD5):c.328T>A (p.Ser110Thr)	CHCHD5 (S72T +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 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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +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

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Items: 24