ClinVar for Gene (Select 124045) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063468	GRCh37/hg19 16q24.3(chr16:89692538-89740609)x1	CHMP1A, DPEP1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063398	GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3	ANKRD11, CDK10 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684824	GRCh37/hg19 16q24.3(chr16:89563707-89772750)x3	CDK10, CHMP1A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2615004	NM_001271907.2(SPATA33):c.240C>A (p.Ser80Arg)	SPATA33 (S80R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608936	NM_001271907.2(SPATA33):c.50A>G (p.Lys17Arg)	SPATA33 (K16R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547157	NM_001271907.2(SPATA33):c.95T>G (p.Met32Arg)	SPATA33 (M1R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2523316	NM_153025.3(SPATA33):c.4G>T (p.Val2Leu)	LOC130059828, SPATA33 (V2L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521927	NM_001271907.2(SPATA33):c.267C>G (p.Ile89Met)	SPATA33 (I89M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2473949	NM_001271907.2(SPATA33):c.302G>C (p.Ser101Thr)	SPATA33 (S101T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2469241	NM_001271907.2(SPATA33):c.103C>T (p.His35Tyr)	SPATA33 (H34Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462245	NM_001271907.2(SPATA33):c.284C>T (p.Ser95Leu)	SPATA33 (S105L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2455904	NM_001271907.2(SPATA33):c.368G>A (p.Arg123Gln)	SPATA33 (R123Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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	CHMP1A, CPNE7 +6 more	Duplication	KBG syndrome	GUncertain significance
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	SPIRE2, TCF25 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422422	NC_000016.9:g.(?_89556653)_(89851392_?)dup	ANKRD11, CDK10 +10 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422419	NC_000016.9:g.(?_89712474)_(89866066_?)del	FANCA, CDK10 +5 more	Deletion	Fanconi anemia	GPathogenic
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2361853	NM_153025.3(SPATA33):c.8C>T (p.Thr3Met)	LOC130059828, SPATA33 (T3M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358621	NM_001271907.2(SPATA33):c.293C>T (p.Thr98Met)	SPATA33 (T98M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285089	NM_001271907.2(SPATA33):c.157C>T (p.Leu53Phe)	SPATA33 (L22F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262977	NM_001271907.2(SPATA33):c.383C>T (p.Pro128Leu)	SPATA33 (P128L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244023	NM_001271907.2(SPATA33):c.190C>T (p.Pro64Ser)	SPATA33 (P64S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2217442	NM_153025.3(SPATA33):c.32T>C (p.Phe11Ser)	LOC130059828, SPATA33 (F11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210897	NM_153025.3(SPATA33):c.26G>C (p.Arg9Thr)	LOC130059828, SPATA33 (R9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807941	GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	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 1526545	GRCh37/hg19 16q24.3(chr16:88985997-89962916)	ACSF3, ANKRD11 +18 more	Copy number gain	not specified	GUncertain significance
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	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 1235871	NM_001271907.2(SPATA33):c.-7C>G	CHMP1A, LOC130059828 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1183917	NM_001271907.2(SPATA33):c.-52C>T	CHMP1A, SPATA33 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1179109	GRCh37/hg19 16q24.3(chr16:89620873-89881041)	CHMP1A, CPNE7 +9 more	Copy number loss	Fanconi anemia complementation group A	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 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 974363	NC_000016.9:g.89645037_89810099del	CDK10, CHMP1A +7 more	Deletion	Fanconi anemia complementation group A	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 689215	GRCh37/hg19 16q24.3(chr16:89662327-89927634)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	GUncertain significance
Select item 688368	GRCh37/hg19 16q24.3(chr16:89666802-89760599)x3	CDK10, CHMP1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 687163	GRCh37/hg19 16q24.3(chr16:89688616-89828326)x1	CDK10, CHMP1A +6 more	Copy number loss	not provided	GUncertain significance
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 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 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 446436	GRCh37/hg19 16q24.3(chr16:89689822-89726926)x3	CHMP1A, CPNE7 +2 more	Copy number gain	not specified	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	BANP, ACSF3 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	VPS9D1, ZC3H18 +59 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 253944	GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3	ZNF276, SPIRE2 +15 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	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +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 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
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	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153450	GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1	CDK10, CHMP1A +38 more	Copy number loss	See cases	GUncertain significance
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +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 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	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 149227	GRCh38/hg38 16q24.3(chr16:89481626-89665765)x3	ANKRD11, CHMP1A +27 more	Copy number gain	See cases	GUncertain significance
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	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 148353	GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
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 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
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	LINC00917, LINC01081 +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	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 58270	GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 87