ClinVar for Gene (Select 646) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690983	NM_001717.4(BNC1):c.1874_1875del (p.Pro625fs)	BNC1 (P618fs +1 more)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690982	NM_001717.4(BNC1):c.621_637del (p.Phe207fs)	BNC1 (F200fs +1 more)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2685526	GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1	BTBD1, SCARNA15 +11 more	Copy number loss	not provided	GPathogenic
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2645645	NM_001717.4(BNC1):c.42C>T (p.Ala14=)	BNC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645644	NM_001717.4(BNC1):c.1043A>G (p.Asn348Ser)	BNC1 (N341S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645643	NM_001717.4(BNC1):c.2568G>C (p.Leu856=)	BNC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621279	NM_001717.4(BNC1):c.2552G>A (p.Ser851Asn)	BNC1 (S844N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614592	NM_001717.4(BNC1):c.974C>T (p.Ser325Leu)	BNC1 (S318L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607884	NM_001717.4(BNC1):c.2590A>T (p.Met864Leu)	BNC1 (M857L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604994	NM_001717.4(BNC1):c.1433T>C (p.Leu478Pro)	BNC1 (L478P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598970	NM_001717.4(BNC1):c.791A>G (p.Tyr264Cys)	BNC1 (Y257C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596749	NM_001717.4(BNC1):c.38C>T (p.Ala13Val)	BNC1 (A13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2550833	NM_001717.4(BNC1):c.1831C>A (p.Arg611Ser)	BNC1 (R611S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545780	NM_001717.4(BNC1):c.1319G>C (p.Cys440Ser)	BNC1 (C440S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541378	NM_001717.4(BNC1):c.2846C>T (p.Thr949Ile)	BNC1 (T942I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529257	NM_001717.4(BNC1):c.1069G>A (p.Val357Met)	BNC1 (V357M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524018	NM_001717.4(BNC1):c.2284C>T (p.Arg762Cys)	BNC1 (R755C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2494839	NM_001717.4(BNC1):c.2857C>T (p.Arg953Trp)	BNC1 (R953W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480803	NM_001717.4(BNC1):c.2723T>G (p.Ile908Ser)	BNC1 (I901S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478856	NM_001717.4(BNC1):c.154A>T (p.Asn52Tyr)	BNC1 (N52Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468437	NM_001717.4(BNC1):c.2030G>A (p.Arg677His)	BNC1 (R670H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2464247	NM_001717.4(BNC1):c.2468G>C (p.Gly823Ala)	BNC1 (G816A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461477	NM_001717.4(BNC1):c.1961A>G (p.His654Arg)	BNC1 (H647R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460384	NM_001717.4(BNC1):c.559G>A (p.Glu187Lys)	BNC1 (E180K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378687	NM_001717.4(BNC1):c.1966C>T (p.His656Tyr)	BNC1 (H656Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375642	NM_001717.4(BNC1):c.1829A>G (p.His610Arg)	BNC1 (H610R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365458	NM_001717.4(BNC1):c.70C>T (p.Arg24Trp)	BNC1 (R24W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351907	NM_001717.4(BNC1):c.1925T>C (p.Leu642Ser)	BNC1 (L642S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330334	NM_001717.4(BNC1):c.1031A>T (p.Lys344Met)	BNC1 (K337M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328703	NM_001717.4(BNC1):c.2551A>G (p.Ser851Gly)	BNC1 (S851G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326284	NM_001717.4(BNC1):c.1507A>G (p.Asn503Asp)	BNC1 (N503D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311880	NM_001717.4(BNC1):c.2078C>T (p.Ala693Val)	BNC1 (A686V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293112	NM_001717.4(BNC1):c.680C>G (p.Pro227Arg)	BNC1 (P227R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280886	NM_001717.4(BNC1):c.1821G>T (p.Arg607Ser)	BNC1 (R607S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251161	NM_001717.4(BNC1):c.2155C>T (p.Arg719Cys)	BNC1 (R719C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245218	NM_001717.4(BNC1):c.1855G>A (p.Gly619Arg)	BNC1 (G612R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237851	NM_001717.4(BNC1):c.1753C>T (p.His585Tyr)	BNC1 (H578Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236694	NM_001717.4(BNC1):c.712A>G (p.Ser238Gly)	BNC1 (S238G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234359	NM_001717.4(BNC1):c.2751G>C (p.Gln917His)	BNC1 (Q910H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227255	NM_001717.4(BNC1):c.1657A>G (p.Ile553Val)	BNC1 (I553V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216436	NM_001717.4(BNC1):c.705C>G (p.Asn235Lys)	BNC1 (N235K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215266	NM_001717.4(BNC1):c.571C>A (p.Gln191Lys)	BNC1 (Q191K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206868	NM_001717.4(BNC1):c.47C>T (p.Ala16Val)	BNC1 (A16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1030363	NM_001717.4(BNC1):c.2917C>T (p.Arg973Ter)	BNC1 (R973* +1 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 16	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 929778	NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)	BNC1 (T751I +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 800707	NM_001717.4(BNC1):c.1065_1069del (p.Arg356fs)	BNC1 (R349fs +1 more)	Deletion (frameshift variant)	Premature ovarian failure 16	GPathogenic
Select item 770625	NM_001717.4(BNC1):c.2359A>G (p.Ser787Gly)	BNC1 (S780G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732673	NM_001717.4(BNC1):c.576C>T (p.Ser192=)	BNC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 687860	GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1	ADAMTSL3, AP3B2 +12 more	Copy number loss	not provided	GPathogenic
Select item 685629	GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3	ADAMTSL3, AP3B2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 666438	GRCh37/hg19 15q25.2(chr15:83214012-84772030)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
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	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 549640	NC_000015.9:g.83214012_84812693del1598682	ADAMTSL3, AP3B2 +11 more	Deletion	Primary amenorrhea	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 441779	GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3	ADAMTSL3, AP3B2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441679	GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	ABHD17C, AP3B2 +22 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221753	GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	Premature ovarian failure	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
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	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147906	GRCh38/hg38 15q25.2(chr15:83101364-83291966)x1	BNC1, HDGFL3 +9 more	Copy number loss	See cases	GBenign
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 84