C5orf34-AS1[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 2377216	NM_198566.4(C5orf34):c.1439C>T (p.Thr480Ile)	C5orf34, C5orf34-AS1 (T480I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356624	NM_198566.4(C5orf34):c.1172C>T (p.Ser391Leu)	C5orf34, C5orf34-AS1 (S391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252077	NM_198566.4(C5orf34):c.788A>G (p.Asn263Ser)	C5orf34, C5orf34-AS1 (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237105	NM_198566.4(C5orf34):c.632A>T (p.Lys211Met)	C5orf34, C5orf34-AS1 (K211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251865	NM_198566.4(C5orf34):c.593T>G (p.Phe198Cys)	C5orf34, C5orf34-AS1 (F198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance