ClinVar for Gene (Select 79831) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113921	NM_024773.3(KDM8):c.247A>G (p.Thr83Ala)	KDM8 (T83A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113920	NM_024773.3(KDM8):c.-32+481G>T	KDM8 (G9W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113919	NM_024773.3(KDM8):c.1079C>T (p.Thr360Met)	KDM8 (T360M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113918	NM_024773.3(KDM8):c.-9G>A	KDM8 (G36S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063434	GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3	C16orf82, GTF3C1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2672625	NM_024773.3(KDM8):c.1004G>T (p.Arg335Met)	KDM8 (R335M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623154	NM_024773.3(KDM8):c.98T>A (p.Leu33Gln)	KDM8 (L33Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589655	NM_024773.3(KDM8):c.1120C>T (p.Pro374Ser)	KDM8 (P374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2523897	NM_024773.3(KDM8):c.-32+506G>C	KDM8 (G17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519342	NM_024773.3(KDM8):c.461C>T (p.Pro154Leu)	KDM8 (P154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515449	NM_024773.3(KDM8):c.278G>A (p.Arg93Gln)	KDM8 (R131Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478333	NM_024773.3(KDM8):c.698G>A (p.Arg233Gln)	KDM8 (R233Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475116	NM_024773.3(KDM8):c.1063C>T (p.His355Tyr)	KDM8 (H393Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409290	NM_024773.3(KDM8):c.1028C>T (p.Pro343Leu)	KDM8 (P381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397085	NM_024773.3(KDM8):c.5C>A (p.Ala2Asp)	KDM8 (A2D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363443	NM_024773.3(KDM8):c.680A>G (p.Gln227Arg)	KDM8 (Q265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358602	NM_024773.3(KDM8):c.80C>T (p.Pro27Leu)	KDM8 (P27L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353723	NM_024773.3(KDM8):c.-27G>A	KDM8 (G30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333580	NM_024773.3(KDM8):c.-32+523C>G	KDM8 (L23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300906	NM_024773.3(KDM8):c.-20A>C	KDM8 (E32A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274842	NM_024773.3(KDM8):c.466C>T (p.Arg156Cys)	KDM8 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273721	NM_024773.3(KDM8):c.83A>G (p.His28Arg)	KDM8 (H28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270079	NM_024773.3(KDM8):c.-28C>A	KDM8 (H29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251194	NM_024773.3(KDM8):c.1192T>C (p.Tyr398His)	KDM8 (Y398H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220143	NM_024773.3(KDM8):c.811G>A (p.Gly271Arg)	KDM8 (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 986393	NM_024773.3(KDM8):c.1086+14_1086+21del	KDM8	Deletion (intron variant)	Coffin-Siris syndrome	GUncertain significance
Select item 986392	NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr)	KDM8 (C123Y +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 979449	GRCh37/hg19 16p12.1(chr16:26457597-27420153)x3	C16orf82, IL4R +3 more	Copy number gain	not provided	GUncertain significance
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 710822	NM_024773.3(KDM8):c.1080G>A (p.Thr360=)	KDM8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710277	NM_024773.3(KDM8):c.289A>G (p.Ile97Val)	KDM8 (I135V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	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 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 442153	GRCh37/hg19 16p12.1(chr16:26457597-27283271)x3	C16orf82, KDM8 +1 more	Copy number gain	See cases	GLikely benign
Select item 441915	GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3	C16orf82, GTF3C1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 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 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 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 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155329	GRCh38/hg38 16p12.1(chr16:26495864-27278367)x3	C16orf82, KDM8 +16 more	Copy number gain	See cases	GUncertain significance
Select item 155191	GRCh38/hg38 16p12.1(chr16:26505797-27234282)x3	C16orf82, KDM8 +10 more	Copy number gain	See cases	GLikely benign
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 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 144353	GRCh38/hg38 16p12.1(chr16:26485169-27400746)x3	C16orf82, IL4R +29 more	Copy number gain	See cases	GUncertain significance
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 59989	GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3	C16orf82, GSG1L +59 more	Copy number gain	See cases	GUncertain significance
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 68