ClinVar for Gene (Select 125775243) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211383	NM_015946.5(PELO):c.176A>G (p.Asn59Ser)	ITGA1, PELO +1 more (N59S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598909	NM_181501.2(ITGA1):c.16C>A (p.Arg6Ser)	ITGA1, PELO +1 more (R6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541445	NM_015946.5(PELO):c.182T>C (p.Val61Ala)	ITGA1, PELO +1 more (V61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462942	NM_015946.5(PELO):c.38C>T (p.Ala13Val)	ITGA1, PELO +1 more (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307643	NM_015946.5(PELO):c.418G>C (p.Val140Leu)	ITGA1, PELO +1 more (V140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302627	NM_181501.2(ITGA1):c.49T>C (p.Trp17Arg)	ITGA1, PELO +1 more (W17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic