NIBAN1[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144788	GRCh38/hg38 1q25.3(chr1:184102589-185593977)x1	C1orf21, C1orf21-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 148400	GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1	C1orf21, C1orf21-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 150833	GRCh38/hg38 1q25.3(chr1:184686232-184933141)x1	EDEM3, LOC129388659 +5 more	Copy number loss	See cases	GUncertain significance
Select item 3199907	NM_052966.4(NIBAN1):c.2782G>A (p.Glu928Lys)	NIBAN1 (E726K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299693	NM_052966.4(NIBAN1):c.2746G>T (p.Gly916Cys)	NIBAN1 (G916C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199905	NM_052966.4(NIBAN1):c.2731G>A (p.Val911Met)	NIBAN1 (V911M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199904	NM_052966.4(NIBAN1):c.2626G>A (p.Ala876Thr)	NIBAN1 (A876T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199903	NM_052966.4(NIBAN1):c.2612C>T (p.Ala871Val)	NIBAN1 (A669V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199901	NM_052966.4(NIBAN1):c.2611G>T (p.Ala871Ser)	NIBAN1 (A669S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199900	NM_052966.4(NIBAN1):c.2562T>A (p.Ser854Arg)	NIBAN1 (S854R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780286	NM_052966.4(NIBAN1):c.2488G>A (p.Gly830Ser)	NIBAN1 (G830S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2598257	NM_052966.4(NIBAN1):c.2443C>T (p.Leu815Phe)	NIBAN1 (L815F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199899	NM_052966.4(NIBAN1):c.2436G>T (p.Glu812Asp)	NIBAN1 (E610D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475511	NM_052966.4(NIBAN1):c.2432T>A (p.Met811Lys)	NIBAN1 (M609K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199898	NM_052966.4(NIBAN1):c.2428C>T (p.Pro810Ser)	NIBAN1 (P810S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199897	NM_052966.4(NIBAN1):c.2410A>G (p.Thr804Ala)	NIBAN1 (T602A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199896	NM_052966.4(NIBAN1):c.2378G>A (p.Ser793Asn)	NIBAN1 (S591N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199895	NM_052966.4(NIBAN1):c.2371G>T (p.Val791Leu)	NIBAN1 (V791L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199894	NM_052966.4(NIBAN1):c.2350G>C (p.Glu784Gln)	NIBAN1 (E784Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299689	NM_052966.4(NIBAN1):c.2335G>A (p.Glu779Lys)	NIBAN1 (E779K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199893	NM_052966.4(NIBAN1):c.2218G>A (p.Val740Ile)	NIBAN1 (V538I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 92021	NM_052966.4(NIBAN1):c.2201C>T (p.Thr734Met)	NIBAN1 (T734M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3199892	NM_052966.4(NIBAN1):c.2171T>C (p.Val724Ala)	NIBAN1 (V724A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199891	NM_052966.4(NIBAN1):c.2117C>T (p.Ser706Leu)	NIBAN1 (S706L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199890	NM_052966.4(NIBAN1):c.2110A>G (p.Thr704Ala)	NIBAN1 (T502A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199889	NM_052966.4(NIBAN1):c.2077G>C (p.Glu693Gln)	NIBAN1 (E491Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199888	NM_052966.4(NIBAN1):c.2066C>A (p.Thr689Asn)	NIBAN1 (T487N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199887	NM_052966.4(NIBAN1):c.2029C>T (p.Pro677Ser)	NIBAN1 (P677S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199886	NM_052966.4(NIBAN1):c.2024G>T (p.Gly675Val)	NIBAN1 (G473V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600003	NM_052966.4(NIBAN1):c.1990G>T (p.Val664Leu)	NIBAN1 (V462L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199884	NM_052966.4(NIBAN1):c.1976G>A (p.Arg659Lys)	NIBAN1 (R659K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299692	NM_052966.4(NIBAN1):c.1946C>T (p.Pro649Leu)	NIBAN1 (P649L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3299691	NM_052966.4(NIBAN1):c.1936A>C (p.Ser646Arg)	NIBAN1 (S646R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299696	NM_052966.4(NIBAN1):c.1774T>A (p.Ser592Thr)	NIBAN1 (S592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299690	NM_052966.4(NIBAN1):c.1730G>A (p.Ser577Asn)	NIBAN1 (S577N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199882	NM_052966.4(NIBAN1):c.1553C>A (p.Pro518Gln)	NIBAN1 (P518Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199881	NM_052966.4(NIBAN1):c.1504C>A (p.Gln502Lys)	NIBAN1 (Q300K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199880	NM_052966.4(NIBAN1):c.1436G>A (p.Arg479Gln)	NIBAN1 (R277Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199879	NM_052966.4(NIBAN1):c.1393G>A (p.Glu465Lys)	NIBAN1 (E465K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199878	NM_052966.4(NIBAN1):c.1384C>G (p.Leu462Val)	NIBAN1 (L462V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199877	NM_052966.4(NIBAN1):c.1357A>C (p.Thr453Pro)	NIBAN1 (T453P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199875	NM_052966.4(NIBAN1):c.1256G>A (p.Arg419His)	NIBAN1 (R419H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199874	NM_052966.4(NIBAN1):c.1255C>T (p.Arg419Cys)	NIBAN1 (R217C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199873	NM_052966.4(NIBAN1):c.1199C>T (p.Pro400Leu)	NIBAN1 (P400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599959	NM_052966.4(NIBAN1):c.1183C>T (p.Arg395Trp)	NIBAN1 (R395W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621654	NM_052966.4(NIBAN1):c.1141C>A (p.Gln381Lys)	NIBAN1 (Q381K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199872	NM_052966.4(NIBAN1):c.1094T>C (p.Val365Ala)	NIBAN1 (V365A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199871	NM_052966.4(NIBAN1):c.1093G>T (p.Val365Leu)	NIBAN1 (V163L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199870	NM_052966.4(NIBAN1):c.1039C>G (p.Leu347Val)	NIBAN1 (L347V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463921	NM_052966.4(NIBAN1):c.1001C>T (p.Pro334Leu)	NIBAN1 (P334L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461043	NM_052966.4(NIBAN1):c.971T>C (p.Ile324Thr)	NIBAN1 (I324T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199917	NM_052966.4(NIBAN1):c.929G>A (p.Arg310His)	NIBAN1 (R310H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199916	NM_052966.4(NIBAN1):c.905C>T (p.Thr302Ile)	NIBAN1 (T100I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199915	NM_052966.4(NIBAN1):c.829G>A (p.Glu277Lys)	NIBAN1 (E277K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620524	NM_052966.4(NIBAN1):c.772C>A (p.Leu258Met)	NIBAN1 (L258M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623778	NM_052966.4(NIBAN1):c.712A>G (p.Ile238Val)	NIBAN1 (I36V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199914	NM_052966.4(NIBAN1):c.701C>T (p.Thr234Ile)	NIBAN1 (T234I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199913	NM_052966.4(NIBAN1):c.676C>T (p.His226Tyr)	NIBAN1 (H226Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508071	NM_052966.4(NIBAN1):c.662G>A (p.Arg221Gln)	NIBAN1 (R19Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199912	NM_052966.4(NIBAN1):c.649G>A (p.Val217Met)	NIBAN1 (V15M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299695	NM_052966.4(NIBAN1):c.608T>C (p.Met203Thr)	NIBAN1 (M203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780287	NM_052966.4(NIBAN1):c.558G>A (p.Arg186=)	NIBAN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3199911	NM_052966.4(NIBAN1):c.557G>T (p.Arg186Met)	NIBAN1 (R186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775630	NM_052966.4(NIBAN1):c.511T>C (p.Phe171Leu)	NIBAN1 (F171L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3199910	NM_052966.4(NIBAN1):c.479A>G (p.Lys160Arg)	NIBAN1 (K160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639638	NM_052966.4(NIBAN1):c.478A>G (p.Lys160Glu)	NIBAN1 (K160E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 3199909	NM_052966.4(NIBAN1):c.421C>T (p.Pro141Ser)	NIBAN1 (P141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513071	NM_052966.4(NIBAN1):c.312T>A (p.Asn104Lys)	NIBAN1 (N104K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199908	NM_052966.4(NIBAN1):c.283A>C (p.Asn95His)	NIBAN1 (N95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199906	NM_052966.4(NIBAN1):c.277G>C (p.Val93Leu)	NIBAN1 (V93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199885	NM_052966.4(NIBAN1):c.199C>T (p.Pro67Ser)	NIBAN1 (P67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199883	NM_052966.4(NIBAN1):c.185A>C (p.Lys62Thr)	NIBAN1 (K62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515367	NM_052966.4(NIBAN1):c.164C>T (p.Thr55Met)	NIBAN1 (T55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199876	NM_052966.4(NIBAN1):c.130G>A (p.Val44Met)	NIBAN1 (V44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623231	NM_052966.4(NIBAN1):c.28G>C (p.Asp10His)	NIBAN1 (D10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814150	GRCh37/hg19 1q25.3(chr1:184688562-184921793)x3	EDEM3, NIBAN1	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 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

Search results

Items: 99