ClinVar for Gene (Select 116496) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3299695	NM_052966.4(NIBAN1):c.608T>C (p.Met203Thr)	NIBAN1 (M203T)	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 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 3299690	NM_052966.4(NIBAN1):c.1730G>A (p.Ser577Asn)	NIBAN1 (S577N)	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 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 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 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 3199911	NM_052966.4(NIBAN1):c.557G>T (p.Arg186Met)	NIBAN1 (R186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3199909	NM_052966.4(NIBAN1):c.421C>T (p.Pro141Ser)	NIBAN1 (P141S)	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 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 3199906	NM_052966.4(NIBAN1):c.277G>C (p.Val93Leu)	NIBAN1 (V93L)	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 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 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 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 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 3199885	NM_052966.4(NIBAN1):c.199C>T (p.Pro67Ser)	NIBAN1 (P67S)	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 3199883	NM_052966.4(NIBAN1):c.185A>C (p.Lys62Thr)	NIBAN1 (K62T)	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 3199876	NM_052966.4(NIBAN1):c.130G>A (p.Val44Met)	NIBAN1 (V44M)	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 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 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
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 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 2623231	NM_052966.4(NIBAN1):c.28G>C (p.Asp10His)	NIBAN1 (D10H)	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 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 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 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 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 2515367	NM_052966.4(NIBAN1):c.164C>T (p.Thr55Met)	NIBAN1 (T55M)	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 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 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 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 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 780287	NM_052966.4(NIBAN1):c.558G>A (p.Arg186=)	NIBAN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780286	NM_052966.4(NIBAN1):c.2488G>A (p.Gly830Ser)	NIBAN1 (G830S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775630	NM_052966.4(NIBAN1):c.511T>C (p.Phe171Leu)	NIBAN1 (F171L)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 150833	GRCh38/hg38 1q25.3(chr1:184686232-184933141)x1	EDEM3, LOC129388659 +5 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 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	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 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
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 92021	NM_052966.4(NIBAN1):c.2201C>T (p.Thr734Met)	NIBAN1 (T734M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 99