ClinVar for Gene (Select 126862190) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133389	NM_004049.4(BCL2A1):c.98C>T (p.Thr33Met)	BCL2A1, LOC126862190 (T33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605890	NM_004049.4(BCL2A1):c.214A>G (p.Asn72Asp)	BCL2A1, LOC126862190 (N72D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555229	NM_004049.4(BCL2A1):c.131T>C (p.Val44Ala)	BCL2A1, LOC126862190 (V44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543386	NM_004049.4(BCL2A1):c.70C>A (p.Pro24Thr)	BCL2A1, LOC126862190 (P24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510958	NM_004049.4(BCL2A1):c.328C>T (p.Pro110Ser)	BCL2A1, LOC126862190 (P110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510221	NM_004049.4(BCL2A1):c.355T>G (p.Ser119Ala)	BCL2A1, LOC126862190 (S119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268869	NM_004049.4(BCL2A1):c.295C>G (p.Leu99Val)	BCL2A1, LOC126862190 (L99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207777	NM_004049.4(BCL2A1):c.329C>T (p.Pro110Leu)	BCL2A1, LOC126862190 (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712172	NM_004049.4(BCL2A1):c.99G>A (p.Thr33=)	BCL2A1, LOC126862190	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 58354	GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3	ARNT2, ARNT2-DT +38 more	Copy number gain	See cases	GUncertain significance