ClinVar for Gene (Select 54971) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260350	NM_001386991.1(BANP):c.1126G>T (p.Ala376Ser)	BANP (A273S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260349	NM_001386991.1(BANP):c.607A>G (p.Ser203Gly)	BANP (S100G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260348	NM_001386991.1(BANP):c.1544C>T (p.Thr515Met)	BANP (T348M +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ZNF469, ZNF778 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3132971	NM_001386991.1(BANP):c.509T>C (p.Ile170Thr)	BANP (I137T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132970	NM_001386991.1(BANP):c.340C>G (p.Gln114Glu)	BANP (Q106E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132968	NM_001386991.1(BANP):c.1584G>C (p.Gln528His)	BANP (Q364H +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132967	NM_001386991.1(BANP):c.1427C>T (p.Ala476Val)	BANP (A351V +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132966	NM_001386991.1(BANP):c.1259C>T (p.Thr420Met)	BANP (T275M +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132964	NM_001386991.1(BANP):c.1115C>A (p.Pro372Gln)	BANP (P378Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132963	NM_001386991.1(BANP):c.1103C>T (p.Pro368Leu)	BANP (P226L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	MVD, PABPN1L +22 more	Copy number loss	not provided	GPathogenic
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 2646966	NM_001386991.1(BANP):c.618C>T (p.Ile206=)	BANP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609986	NM_001386991.1(BANP):c.1076G>T (p.Ser359Ile)	BANP (S320I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555322	NM_001386991.1(BANP):c.1564C>T (p.Leu522Phe)	BANP (L355F +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549654	NM_001386991.1(BANP):c.497G>A (p.Arg166Gln)	BANP (R127Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546807	NM_001386991.1(BANP):c.1129C>G (p.Leu377Val)	BANP (L377V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531398	NM_001386991.1(BANP):c.61G>A (p.Asp21Asn)	BANP (D21N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2498685	GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1	BANP, C16orf95 +12 more	Copy number loss	not provided	GPathogenic
Select item 2481538	NM_001386991.1(BANP):c.1520A>G (p.Gln507Arg)	BANP (Q482R +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458813	NM_001386991.1(BANP):c.494G>A (p.Arg165His)	BANP (R132H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423762	NC_000016.9:g.(?_87677844)_(88505740_?)dup	BANP, CA5A +4 more	Duplication	not provided	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2387736	NM_001386991.1(BANP):c.1144G>T (p.Ala382Ser)	BANP (A279S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370715	NM_001386991.1(BANP):c.278C>T (p.Thr93Met)	BANP (T85M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357415	NM_001386991.1(BANP):c.293G>A (p.Ser98Asn)	BANP (S98N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340162	NM_001386991.1(BANP):c.106G>A (p.Glu36Lys)	BANP (E36K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339711	NM_001386991.1(BANP):c.444C>G (p.Asn148Lys)	BANP (N148K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338187	NM_001386991.1(BANP):c.1010C>T (p.Ala337Val)	BANP (A234V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288256	NM_001386991.1(BANP):c.1462G>A (p.Asp488Asn)	BANP (D360N +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250908	NM_001386991.1(BANP):c.1508C>T (p.Thr503Met)	BANP (T339M +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250577	NM_001386991.1(BANP):c.1306G>A (p.Gly436Ser)	BANP (G400S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237680	NM_001386991.1(BANP):c.228A>T (p.Gln76His)	BANP (Q68H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226535	NM_001386991.1(BANP):c.1058C>T (p.Pro353Leu)	BANP (P211L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807570	GRCh37/hg19 16q24.2(chr16:87782799-88150144)x1	KLHDC4, CA5A +2 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 1069841	NC_000016.9:g.(?_87636753)_(88505740_?)del	BANP, JPH3 +4 more	Deletion	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GPathogenic
Select item 979485	GRCh37/hg19 16q24.2(chr16:88020700-88608345)x1	ZNF469, BANP +1 more	Copy number loss	not provided	GUncertain significance
Select item 979484	GRCh37/hg19 16q24.2(chr16:87762484-88234413)x1	KLHDC4, SLC7A5 +2 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815865	GRCh37/hg19 16q24.2(chr16:87765473-87992527)x3	KLHDC4, BANP +2 more	Copy number gain	not provided	GLikely benign
Select item 756317	NM_001386991.1(BANP):c.975G>A (p.Thr325=)	BANP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688519	GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3	BANP, CA5A +11 more	Copy number gain	not provided	GUncertain significance
Select item 686391	GRCh37/hg19 16q24.2(chr16:87662098-88059562)x3	BANP, CA5A +3 more	Copy number gain	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564368	GRCh37/hg19 16q24.2(chr16:87766191-87992527)x3	KLHDC4, BANP +2 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560033	Single allele	IL17C, ACSF3 +29 more	Deletion	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 487782	NM_001386991.1(BANP):c.692A>G (p.Asn231Ser)	BANP (N192S +6 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 442166	GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3	APRT, BANP +15 more	Copy number gain	See cases	GLikely benign
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 441081	GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1	ACSF3, ANKRD11 +30 more	Copy number loss	not provided	Gnot provided
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 267482	Single allele	ACSF3, ANKRD11 +30 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267475	Single allele	ZC3H18, ZCCHC14 +29 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 253753	GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	ACSF3, APRT +23 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 154521	GRCh38/hg38 16q24.2(chr16:87766820-88391819)x3	BANP, CA5A +35 more	Copy number gain	See cases	GUncertain significance
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 99