ClinVar for Gene (Select 663) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3261284	NM_004330.4(BNIP2):c.-164G>A	BNIP2	Single nucleotide variant (5 prime UTR 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 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 3134670	NM_004330.4(BNIP2):c.-129G>A	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	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 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 2469624	NM_004330.4(BNIP2):c.-101C>G	BNIP2	Single nucleotide variant (5 prime UTR variant)	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 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 2391472	NM_004330.4(BNIP2):c.-234G>A	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2362792	NM_004330.4(BNIP2):c.-150C>G	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 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 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 2311653	NM_004330.4(BNIP2):c.-2G>C	BNIP2	Single nucleotide variant (intron 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 2293987	NM_004330.4(BNIP2):c.-138G>A	BNIP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 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 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	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +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
Select item 146698	GRCh38/hg38 15q22.2(chr15:59565894-59705977)x1	BNIP2, GCNT3 +2 more	Copy number loss	See cases	GUncertain significance
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 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 44