ClinVar for Gene (Select 597) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260641	NM_004049.4(BCL2A1):c.303G>T (p.Lys101Asn)	BCL2A1, LOC126862190 (K101N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260640	NM_004049.4(BCL2A1):c.142G>A (p.Val48Met)	BCL2A1, LOC126862190 (V48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260639	NM_004049.4(BCL2A1):c.173A>G (p.Asn58Ser)	BCL2A1, LOC126862190 (N58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684765	GRCh37/hg19 15q25.1(chr15:80208164-81551831)x3	ABHD17C, ARNT2 +10 more	Copy number gain	not provided	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 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
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)	LOC126862190, BCL2A1 (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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	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 2237952	NM_004049.4(BCL2A1):c.509T>C (p.Leu170Pro)	BCL2A1 (L170P)	Single nucleotide variant (3 prime UTR variant +1 more)	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 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1807897	GRCh37/hg19 15q25.1-25.2(chr15:79996626-82097796)x1	ABHD17C, ARNT2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980537	GRCh37/hg19 15q25.1(chr15:79679772-80383301)x3	MINAR1, MTHFS +4 more	Copy number gain	not provided	GUncertain significance
Select item 720504	NM_004049.4(BCL2A1):c.421-8T>G	BCL2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712172	NM_004049.4(BCL2A1):c.99G>A (p.Thr33=)	BCL2A1, LOC126862190	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 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

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Links from Gene

Items: 37