ClinVar for Gene (Select 79724) - ClinVar

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

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259457	NM_024671.4(ZNF768):c.1612G>T (p.Gly538Cys)	ZNF768 (G538C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259456	NM_024671.4(ZNF768):c.1462G>A (p.Ala488Thr)	ZNF768 (A488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259455	NM_024671.4(ZNF768):c.860A>G (p.Lys287Arg)	ZNF768 (K287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259454	NM_024671.4(ZNF768):c.254G>A (p.Gly85Glu)	ZNF768 (G85E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259453	NM_024671.4(ZNF768):c.568G>A (p.Val190Ile)	ZNF768 (V190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259450	NM_024671.4(ZNF768):c.580C>T (p.Pro194Ser)	ZNF768 (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3198195	NM_024671.4(ZNF768):c.961C>A (p.Arg321Ser)	ZNF768 (R321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198193	NM_024671.4(ZNF768):c.580C>G (p.Pro194Ala)	ZNF768 (P194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198192	NM_024671.4(ZNF768):c.568G>T (p.Val190Leu)	ZNF768 (V190L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198191	NM_024671.4(ZNF768):c.311G>T (p.Ser104Ile)	ZNF768 (S104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646383	NM_024671.4(ZNF768):c.1494C>G (p.Ser498=)	ZNF768	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616098	NM_024671.4(ZNF768):c.784A>G (p.Ile262Val)	ZNF768 (I262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601403	NM_024671.4(ZNF768):c.752G>A (p.Arg251Gln)	ZNF768 (R251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541178	NM_024671.4(ZNF768):c.226A>T (p.Ser76Cys)	ZNF768 (S76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458587	NM_024671.4(ZNF768):c.643C>T (p.Pro215Ser)	ZNF768 (P215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400660	NM_024671.4(ZNF768):c.394A>G (p.Ser132Gly)	ZNF768 (S132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379012	NM_024671.4(ZNF768):c.104A>G (p.Asn35Ser)	LOC130058837, ZNF768 (N35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378011	NM_024671.4(ZNF768):c.43G>A (p.Val15Met)	LOC130058839, ZNF768 (V15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373178	NM_024671.4(ZNF768):c.687T>G (p.Phe229Leu)	ZNF768 (F229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371231	NM_024671.4(ZNF768):c.1400A>G (p.Asn467Ser)	ZNF768 (N467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318797	NM_024671.4(ZNF768):c.1021G>T (p.Gly341Cys)	ZNF768 (G341C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302646	NM_024671.4(ZNF768):c.355C>T (p.Pro119Ser)	ZNF768 (P119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293544	NM_024671.4(ZNF768):c.1556G>A (p.Gly519Glu)	ZNF768 (G519E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284286	NM_024671.4(ZNF768):c.404A>T (p.Tyr135Phe)	ZNF768 (Y135F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269812	NM_024671.4(ZNF768):c.560A>G (p.Asn187Ser)	ZNF768 (N187S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246569	NM_024671.4(ZNF768):c.1258G>A (p.Ala420Thr)	ZNF768 (A420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242648	NM_024671.4(ZNF768):c.1379C>A (p.Pro460His)	ZNF768 (P460H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232843	NM_024671.4(ZNF768):c.166T>C (p.Phe56Leu)	ZNF768 (F56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214783	NM_024671.4(ZNF768):c.1374C>G (p.Ser458Arg)	ZNF768 (S458R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809415	GRCh37/hg19 16p11.2(chr16:30460206-30906733)x3	BCL7C, CFAP119 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1330157	GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1	ALDOA, BOLA2B +29 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 394674	GRCh37/hg19 16p11.2(chr16:30515442-30792856)x1	CFAP119, FBRS +12 more	Copy number loss	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 59991	GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3	CD2BP2-DT, DCTPP1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 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: 50