ClinVar for Gene (Select 81631) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122723	NM_022818.5(MAP1LC3B):c.304G>A (p.Glu102Lys)	MAP1LC3B (E102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063453	GRCh37/hg19 16q24.2(chr16:87213180-87474058)x1	C16orf95, FBXO31 +2 more	Copy number loss	not specified	GUncertain significance
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2553606	NM_022818.5(MAP1LC3B):c.256C>G (p.His86Asp)	MAP1LC3B (H86D)	Single nucleotide variant (missense variant)	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 2493543	NM_022818.5(MAP1LC3B):c.86C>T (p.Thr29Ile)	MAP1LC3B (T29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406999	NM_022818.5(MAP1LC3B):c.271G>A (p.Val91Ile)	MAP1LC3B (V91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358122	NM_022818.5(MAP1LC3B):c.5C>G (p.Pro2Arg)	MAP1LC3B (P2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298841	NM_022818.5(MAP1LC3B):c.131T>C (p.Leu44Pro)	MAP1LC3B (L44P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298840	NM_022818.5(MAP1LC3B):c.130C>T (p.Leu44Phe)	MAP1LC3B (L44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291996	NM_022818.5(MAP1LC3B):c.167A>G (p.Asp56Gly)	MAP1LC3B (D56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226367	NM_022818.5(MAP1LC3B):c.32G>T (p.Arg11Leu)	LOC130059693, MAP1LC3B (R11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
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 869495	NC_000016.9:g.86243180_87703229del	FBXO31, ZCCHC14-DT +9 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 815863	GRCh37/hg19 16q24.2(chr16:87409427-87603006)x1	FBXO31, ZCCHC14-DT +2 more	Copy number loss	not provided	GUncertain significance
Select item 813309	GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)	C16orf74, C16orf95 +20 more	Copy number loss	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 781343	NM_022818.5(MAP1LC3B):c.73G>C (p.Glu25Gln)	MAP1LC3B (E25Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 753591	NM_022818.5(MAP1LC3B):c.72A>T (p.Arg24=)	MAP1LC3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749706	NM_022818.5(MAP1LC3B):c.345C>T (p.Ser115=)	MAP1LC3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564366	GRCh37/hg19 16q24.2(chr16:87307128-87551687)x1	FBXO31, ZCCHC14-DT +3 more	Copy number loss	not provided	GUncertain significance
Select item 564365	GRCh37/hg19 16q24.2(chr16:87149360-87848903)x1	MAP1LC3B, ZCCHC14 +5 more	Copy number loss	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	AARS1, ABCC11 +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	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443397	GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1	C16orf74, C16orf95 +18 more	Copy number loss	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +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 442044	GRCh37/hg19 16q24.2(chr16:87428533-87486111)x1	MAP1LC3B, ZCCHC14	Copy number loss	See cases	GUncertain significance
Select item 441961	GRCh37/hg19 16q24.2(chr16:87333237-87457042)x1	C16orf95, FBXO31 +2 more	Copy number loss	See cases	GLikely pathogenic
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	DPEP2, DPEP3 +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 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	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic
Select item 155590	GRCh38/hg38 16q24.2(chr16:87267492-87780225)x1	C16orf95, C16orf95-DT +33 more	Copy number loss	See cases	GUncertain significance
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	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154655	GRCh38/hg38 16q24.2(chr16:87382052-87766879)x1	FBXO31, JPH3 +29 more	Copy number loss	See cases	GUncertain significance
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 151023	GRCh38/hg38 16q24.2(chr16:87038922-87766879)x1	C16orf95, C16orf95-DT +39 more	Copy number loss	See cases	GUncertain significance
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	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
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	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 147332	GRCh38/hg38 16q24.2(chr16:87223779-87440975)x1	C16orf95, C16orf95-DT +13 more	Copy number loss	See cases	GUncertain significance
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 146319	GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1	C16orf95, C16orf95-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 146290	GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1	C16orf95, C16orf95-DT +42 more	Copy number loss	See cases	GLikely pathogenic
Select item 145626	GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1	C16orf95, C16orf95-DT +44 more	Copy number loss	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 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	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	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic

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Items: 77