BNIP2[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 146698	GRCh38/hg38 15q22.2(chr15:59565894-59705977)x1	BNIP2, GCNT3 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3134669	NM_004330.4(BNIP2):c.859A>G (p.Met287Val)	BNIP2 (M243V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332134	NM_004330.4(BNIP2):c.797C>T (p.Ser266Leu)	BNIP2 (S213L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454746	NM_004330.4(BNIP2):c.791T>C (p.Ile264Thr)	BNIP2 (I264T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606604	NM_004330.4(BNIP2):c.769C>G (p.Leu257Val)	BNIP2 (L204V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304282	NM_004330.4(BNIP2):c.713G>A (p.Arg238Gln)	BNIP2 (R194Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478030	NM_004330.4(BNIP2):c.638G>A (p.Gly213Asp)	BNIP2 (G213D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244957	NM_004330.4(BNIP2):c.479A>T (p.Tyr160Phe)	BNIP2 (Y107F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327201	NM_004330.4(BNIP2):c.449A>G (p.Tyr150Cys)	BNIP2 (Y97C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402209	NM_004330.4(BNIP2):c.440T>C (p.Ile147Thr)	BNIP2 (I147T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510422	NM_004330.4(BNIP2):c.392G>A (p.Arg131His)	BNIP2 (R78H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134672	NM_004330.4(BNIP2):c.203C>G (p.Ser68Cys)	BNIP2 (S68C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261286	NM_004330.4(BNIP2):c.197A>T (p.Asp66Val)	BNIP2 (D13V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263297	NM_004330.4(BNIP2):c.157C>G (p.Leu53Val)	BNIP2 (L53V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261285	NM_004330.4(BNIP2):c.108G>C (p.Glu36Asp)	BNIP2 (E36D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134671	NM_004330.4(BNIP2):c.104C>A (p.Pro35Gln)	BNIP2 (P35Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493484	NM_004330.4(BNIP2):c.94A>G (p.Ile32Val)	BNIP2 (I32V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349251	NM_004330.4(BNIP2):c.71G>C (p.Ser24Thr)	BNIP2 (S24T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597559	NM_004330.4(BNIP2):c.68A>G (p.Asp23Gly)	BNIP2 (D23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311653	NM_004330.4(BNIP2):c.-2G>C	BNIP2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2469624	NM_004330.4(BNIP2):c.-101C>G	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3134670	NM_004330.4(BNIP2):c.-129G>A	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2293987	NM_004330.4(BNIP2):c.-138G>A	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2362792	NM_004330.4(BNIP2):c.-150C>G	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3261284	NM_004330.4(BNIP2):c.-164G>A	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2391472	NM_004330.4(BNIP2):c.-234G>A	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 815725	GRCh37/hg19 15q22.2(chr15:59926966-59984655)x1	GTF2A2, BNIP2	Copy number loss	not provided	GUncertain significance
Select item 815724	GRCh37/hg19 15q22.2(chr15:59592936-60360150)x1	BNIP2, FAM81A +4 more	Copy number loss	not provided	GUncertain significance
Select item 685946	GRCh37/hg19 15q22.2(chr15:59862040-59970994)x3	BNIP2, GCNT3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	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 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	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

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Items: 44