LOC101927817[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 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 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 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 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 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 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 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 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 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 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 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 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
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 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	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 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 154535	GRCh38/hg38 16q24.3(chr16:89217281-89536982)x1	ANKRD11, LOC100287036 +37 more	Copy number loss	See cases	GPathogenic
Select item 59541	GRCh38/hg38 16q24.3(chr16:89225411-89530534)x1	ANKRD11, LOC100287036 +35 more	Copy number loss	See cases	GPathogenic
Select item 155623	GRCh38/hg38 16q24.3(chr16:89339007-89534853)x1	ANKRD11, LOC101927817 +25 more	Copy number loss	See cases	GUncertain significance
Select item 2503470	Single allele	ANKRD11, LOC101927817 +23 more	Deletion	KBG syndrome	GLikely pathogenic
Select item 154146	GRCh38/hg38 16q24.3(chr16:89343221-89494861)x1	ANKRD11, LOC101927817 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 2503471	Single allele	ANKRD11, LOC101927817 +23 more	Deletion	KBG syndrome	GLikely pathogenic
Select item 148541	GRCh38/hg38 16q24.3(chr16:89395175-89454555)x1	ANKRD11, LOC101927817 +5 more	Copy number loss	See cases	GLikely benign
Select item 148209	GRCh38/hg38 16q24.3(chr16:89395175-89481685)x1	ANKRD11, LOC101927817 +5 more	Copy number loss	See cases	GUncertain significance
Select item 1342119	NM_013275.6(ANKRD11):c.-144-19726C>T	ANKRD11, LOC101927817	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234903	NM_013275.6(ANKRD11):c.-144-29588G>T	ANKRD11, LOC101927817	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326171	NM_013275.6(ANKRD11):c.-144-29822_-144-29787dup	ANKRD11, LOC101927817	Duplication (intron variant)	not provided	GLikely benign
Select item 1343910	NM_013275.6(ANKRD11):c.-144-29864A>T	ANKRD11, LOC101927817	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
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 3063471	GRCh37/hg19 16q24.3(chr16:89462287-89526985)x1	ANKRD11, LOC101927817	Copy number loss	not specified	GPathogenic
Select item 3063464	GRCh37/hg19 16q24.3(chr16:89472880-89612756)x1	ANKRD11, LOC101927817 +1 more	Copy number loss	not specified	GPathogenic
Select item 3063426	GRCh37/hg19 16q24.3(chr16:89151360-89518831)x1	ACSF3, ANKRD11 +4 more	Copy number loss	not specified	GPathogenic
Select item 3063398	GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3	ANKRD11, CDK10 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063397	GRCh37/hg19 16q24.3(chr16:89505521-89592077)x1	ANKRD11, LOC101927817 +1 more	Copy number loss	not specified	GPathogenic
Select item 2684823	GRCh37/hg19 16q24.3(chr16:89472030-89582439)x3	ANKRD11, LOC101927817 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2425847	NC_000016.9:g.(?_89167090)_(89883023_?)dup	ACSF3, ANKRD11 +15 more	Duplication	KBG syndrome	GUncertain significance
Select item 2425843	NC_000016.9:g.(?_89371594)_(89730828_?)dup	ANKRD11, CHMP1A +6 more	Duplication	KBG syndrome	GUncertain significance
Select item 2424532	NC_000016.9:g.(?_89334886)_(89723996_?)dup	ANKRD11, CHMP1A +5 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 1809450	GRCh37/hg19 16q24.3(chr16:89510001-89560634)x1	ANKRD11, LOC101927817	Copy number loss	not provided	GUncertain significance
Select item 1808655	GRCh37/hg19 16q24.3(chr16:89320845-89607414)x1	ANKRD11, LOC101927817 +1 more	Copy number loss	not provided	GPathogenic
Select item 1807833	GRCh37/hg19 16q24.3(chr16:89320845-89531224)x1	ANKRD11, LOC101927817	Copy number loss	not provided	GPathogenic
Select item 1807612	GRCh37/hg19 16q24.3(chr16:89505522-89592077)x1	ANKRD11, LOC101927817 +1 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 1526554	GRCh37/hg19 16q24.3(chr16:89505328-89561269)	ANKRD11, LOC101927817	Copy number loss	not specified	GPathogenic
Select item 1526553	GRCh37/hg19 16q24.3(chr16:89462149-89552342)	ANKRD11, LOC101927817	Copy number loss	not specified	GPathogenic
Select item 1526550	GRCh37/hg19 16q24.3(chr16:89430010-89601261)	ANKRD11, LOC101927817 +1 more	Copy number loss	not specified	GPathogenic
Select item 1526547	GRCh37/hg19 16q24.3(chr16:89273377-89592077)	ANKRD11, LOC101927817 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526545	GRCh37/hg19 16q24.3(chr16:88985997-89962916)	ACSF3, ANKRD11 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1526543	GRCh37/hg19 16q24.3(chr16:88801603-89509853)	ACSF3, ANKRD11 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1411747	NC_000016.9:g.(?_89484692)_(89623501_?)dup	SPG7, LOC101927817 +1 more	Duplication	KBG syndrome	GUncertain significance
Select item 1341552	NC_000016.9:g.88365786_89584412del1218627	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	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 1340329	GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	CDK10, ANKRD11 +21 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 980110	GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3	DEF8, FANCA +21 more	Copy number gain	not provided	GUncertain significance
Select item 979491	GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3	ACSF3, DEF8 +20 more	Copy number gain	not provided	GUncertain significance
Select item 979489	GRCh37/hg19 16q24.3(chr16:89462149-89586284)x3	SPG7, LOC101927817 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	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 815870	GRCh37/hg19 16q24.3(chr16:89490038-89531794)x1	LOC101927817, ANKRD11	Copy number loss	not provided	GUncertain significance
Select item 815869	GRCh37/hg19 16q24.3(chr16:89413394-89544756)x1	ANKRD11, LOC101927817	Copy number loss	not provided	GUncertain significance
Select item 815868	GRCh37/hg19 16q24.3(chr16:89270660-89638476)x3	ANKRD11, LOC101927817 +3 more	Copy number gain	not provided	GUncertain significance
Select item 688149	GRCh37/hg19 16q24.3(chr16:89416511-89679394)x3	ANKRD11, CPNE7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686714	GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 685139	GRCh37/hg19 16q24.3(chr16:89443552-89726484)x3	ANKRD11, CHMP1A +6 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 564370	GRCh37/hg19 16q24.3(chr16:89481006-89509853)x1	LOC101927817, ANKRD11	Copy number loss	not provided	GLikely pathogenic
Select item 564369	GRCh37/hg19 16q24.3(chr16:88983242-89648778)x3	ACSF3, ANKRD11 +8 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 560113	Single allele	ANKRD11, LOC101927817 +1 more	Duplication	not provided	GUncertain significance
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 443552	GRCh37/hg19 16q24.3(chr16:89405415-89607414)x1	ANKRD11, LOC101927817 +1 more	Copy number loss	See cases	GLikely pathogenic
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 442336	GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1	ACSF3, ANKRD11 +20 more	Copy number loss	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 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 395565	GRCh37/hg19 16q24.3(chr16:89474299-89525832)x1	ANKRD11, LOC101927817	Copy number loss	See cases	GPathogenic
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 394356	GRCh37/hg19 16q24.3(chr16:89388113-89541926)x1	ANKRD11, LOC101927817	Copy number loss	See cases	GLikely pathogenic
Select item 267484	Single allele	SLC22A31, ZNF778 +4 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267483	Single allele	ANKRD11, CPNE7 +3 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267482	Single allele	ACSF3, ANKRD11 +30 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267481	Single allele	CDT1, CTU2 +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic

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