ClinVar for Gene (Select 64855) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199960	NM_022833.4(NIBAN2):c.985C>T (p.Pro329Ser)	NIBAN2 (P329S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199959	NM_022833.4(NIBAN2):c.985C>G (p.Pro329Ala)	NIBAN2 (P316A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199958	NM_022833.4(NIBAN2):c.926T>C (p.Met309Thr)	NIBAN2 (M296T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199957	NM_022833.4(NIBAN2):c.898G>A (p.Ala300Thr)	NIBAN2 (A287T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199956	NM_022833.4(NIBAN2):c.861C>T (p.Phe287=)	NIBAN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3199955	NM_022833.4(NIBAN2):c.797G>A (p.Arg266Gln)	NIBAN2 (R266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199954	NM_022833.4(NIBAN2):c.764C>T (p.Pro255Leu)	NIBAN2 (P242L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199953	NM_022833.4(NIBAN2):c.763C>T (p.Pro255Ser)	NIBAN2 (P242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199952	NM_022833.4(NIBAN2):c.64G>A (p.Gly22Arg)	NIBAN2 (G22R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199951	NM_022833.4(NIBAN2):c.623C>T (p.Ala208Val)	NIBAN2 (A195V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199950	NM_022833.4(NIBAN2):c.574C>T (p.Arg192Trp)	NIBAN2 (R179W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199949	NM_022833.4(NIBAN2):c.565G>C (p.Asp189His)	NIBAN2 (D176H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199948	NM_022833.4(NIBAN2):c.532G>A (p.Ala178Thr)	NIBAN2 (A165T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199947	NM_022833.4(NIBAN2):c.500C>T (p.Ala167Val)	NIBAN2 (A154V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199946	NM_022833.4(NIBAN2):c.451A>G (p.Ile151Val)	NIBAN2 (I151V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199945	NM_022833.4(NIBAN2):c.367A>C (p.Lys123Gln)	NIBAN2 (K123Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199944	NM_022833.4(NIBAN2):c.34G>T (p.Ala12Ser)	NIBAN2 (A12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199943	NM_022833.4(NIBAN2):c.326G>A (p.Arg109Gln)	NIBAN2 (R96Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199942	NM_022833.4(NIBAN2):c.314C>T (p.Ala105Val)	NIBAN2 (A92V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199941	NM_022833.4(NIBAN2):c.289G>A (p.Gly97Arg)	NIBAN2 (G84R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199940	NM_022833.4(NIBAN2):c.215C>T (p.Ser72Leu)	NIBAN2 (S72L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199938	NM_022833.4(NIBAN2):c.2116G>T (p.Ala706Ser)	NIBAN2 (A706S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199937	NM_022833.4(NIBAN2):c.2078C>T (p.Pro693Leu)	NIBAN2 (P693L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199936	NM_022833.4(NIBAN2):c.206T>C (p.Ile69Thr)	NIBAN2 (I69T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199935	NM_022833.4(NIBAN2):c.2059G>A (p.Ala687Thr)	NIBAN2 (A674T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199934	NM_022833.4(NIBAN2):c.1951A>G (p.Thr651Ala)	NIBAN2 (T651A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199933	NM_022833.4(NIBAN2):c.1940C>T (p.Pro647Leu)	NIBAN2 (P647L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199932	NM_022833.4(NIBAN2):c.1931C>T (p.Pro644Leu)	NIBAN2 (P631L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199930	NM_022833.4(NIBAN2):c.1852C>T (p.Arg618Cys)	NIBAN2 (R605C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199929	NM_022833.4(NIBAN2):c.1850G>A (p.Arg617Gln)	NIBAN2 (R617Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199928	NM_022833.4(NIBAN2):c.1789G>A (p.Gly597Ser)	NIBAN2 (G584S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199927	NM_022833.4(NIBAN2):c.1672G>C (p.Val558Leu)	NIBAN2 (V545L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199926	NM_022833.4(NIBAN2):c.1591A>T (p.Ile531Phe)	NIBAN2 (I518F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199925	NM_022833.4(NIBAN2):c.1486C>G (p.Leu496Val)	NIBAN2 (L483V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199924	NM_022833.4(NIBAN2):c.1484C>T (p.Ala495Val)	NIBAN2 (A495V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199923	NM_022833.4(NIBAN2):c.1441G>A (p.Asp481Asn)	NIBAN2 (D468N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199922	NM_022833.4(NIBAN2):c.1333G>A (p.Val445Met)	NIBAN2 (V432M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199921	NM_022833.4(NIBAN2):c.1232C>T (p.Ser411Leu)	NIBAN2 (S398L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199920	NM_022833.4(NIBAN2):c.1217A>G (p.Tyr406Cys)	NIBAN2 (Y393C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199919	NM_022833.4(NIBAN2):c.1163A>T (p.Tyr388Phe)	NIBAN2 (Y375F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199918	NM_022833.4(NIBAN2):c.1141G>A (p.Gly381Ser)	NIBAN2 (G368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063073	GRCh37/hg19 9q33.3-34.11(chr9:130211733-130365761)x1	LRSAM1, NIBAN2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659505	NM_022833.4(NIBAN2):c.429G>T (p.Thr143=)	NIBAN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616425	NM_022833.4(NIBAN2):c.1399A>C (p.Lys467Gln)	NIBAN2 (K454Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598015	NM_022833.4(NIBAN2):c.1753G>A (p.Ala585Thr)	NIBAN2 (A572T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556598	NM_022833.4(NIBAN2):c.242A>T (p.Asp81Val)	NIBAN2 (D68V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536805	NM_022833.4(NIBAN2):c.1838C>T (p.Ser613Leu)	NIBAN2 (S613L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522030	NM_022833.4(NIBAN2):c.925A>G (p.Met309Val)	NIBAN2 (M296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520966	NM_022833.4(NIBAN2):c.263G>A (p.Arg88His)	NIBAN2 (R88H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519428	NM_022833.4(NIBAN2):c.118C>G (p.Leu40Val)	NIBAN2 (L27V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515225	NM_022833.4(NIBAN2):c.59A>C (p.Lys20Thr)	NIBAN2 (K20T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490856	NM_022833.4(NIBAN2):c.200A>C (p.Glu67Ala)	NIBAN2 (E67A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489872	NM_022833.4(NIBAN2):c.667T>C (p.Tyr223His)	NIBAN2 (Y223H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485690	NM_022833.4(NIBAN2):c.320A>G (p.Tyr107Cys)	NIBAN2 (Y107C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474146	NM_022833.4(NIBAN2):c.1053G>C (p.Met351Ile)	NIBAN2 (M338I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473362	NM_022833.4(NIBAN2):c.841G>A (p.Glu281Lys)	NIBAN2 (E268K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463550	NM_022833.4(NIBAN2):c.13C>G (p.Leu5Val)	NIBAN2 (L5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458226	NM_022833.4(NIBAN2):c.2087C>T (p.Ser696Leu)	NIBAN2 (S683L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456624	NM_022833.4(NIBAN2):c.2050C>T (p.Pro684Ser)	NIBAN2 (P671S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454232	NM_022833.4(NIBAN2):c.941C>A (p.Thr314Asn)	NIBAN2 (T301N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527561	GRCh37/hg19 9q34.11(chr9:130306022-130522616)	CFAP157, NIBAN2 +5 more	Copy number loss	not specified	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, EEIG1 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC130002656, LOC130002657 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 625638	GRCh37/hg19 9q34.11(chr9:130335766-130517907)	CFAP157, NIBAN2 +5 more	Copy number loss	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 598748	Single allele	LRSAM1, NIBAN2 +1 more	Deletion	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 563619	GRCh37/hg19 9q33.3-34.11(chr9:130000337-130310336)x3	GARNL3, ZNF79 +4 more	Copy number gain	not provided	GLikely benign
Select item 563586	GRCh37/hg19 9q34.11(chr9:130323808-130428471)x3	STXBP1, NIBAN2	Copy number gain	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 98