ClinVar for Gene (Select 56061) - ClinVar

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

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330628	NM_019116.3(UBFD1):c.521C>G (p.Ala174Gly)	UBFD1 (A174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330627	NM_019116.3(UBFD1):c.34G>A (p.Glu12Lys)	UBFD1 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185656	NM_019116.3(UBFD1):c.644C>T (p.Thr215Met)	UBFD1 (T215M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185655	NM_019116.3(UBFD1):c.628C>A (p.Gln210Lys)	UBFD1 (Q210K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185654	NM_019116.3(UBFD1):c.517G>A (p.Asp173Asn)	UBFD1 (D173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185653	NM_019116.3(UBFD1):c.259G>A (p.Asp87Asn)	UBFD1 (D87N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615343	NM_019116.3(UBFD1):c.98G>T (p.Cys33Phe)	UBFD1 (C33F)	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 2539801	NM_019116.3(UBFD1):c.559C>G (p.Gln187Glu)	UBFD1 (Q187E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537568	NM_019116.3(UBFD1):c.315C>G (p.Ser105Arg)	UBFD1 (S105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521018	NM_019116.3(UBFD1):c.139T>C (p.Ser47Pro)	UBFD1 (S47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427432	NC_000016.9:g.(?_23193865)_(23652612_?)del	COG7, EARS2 +6 more	Deletion	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2426865	NC_000016.9:g.(?_23584033)_(23647150_?)del	NDUFAB1, PALB2 +1 more	Deletion	Familial cancer of breast	GPathogenic
Select item 2423670	NC_000016.9:g.(?_23543958)_(23619353_?)del	EARS2, NDUFAB1 +2 more	Deletion	not provided	GPathogenic
Select item 2406286	NM_019116.3(UBFD1):c.79C>G (p.Pro27Ala)	UBFD1 (P27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392672	NM_019116.3(UBFD1):c.56C>T (p.Ala19Val)	UBFD1 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391135	NM_019116.3(UBFD1):c.212T>G (p.Val71Gly)	UBFD1 (V71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369775	NM_019116.3(UBFD1):c.125C>T (p.Ala42Val)	UBFD1 (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366442	NM_019116.3(UBFD1):c.152G>A (p.Arg51Gln)	UBFD1 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315641	NM_019116.3(UBFD1):c.107C>G (p.Ala36Gly)	UBFD1 (A36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274167	NM_019116.3(UBFD1):c.68C>T (p.Ala23Val)	UBFD1 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269332	NM_019116.3(UBFD1):c.55G>A (p.Ala19Thr)	UBFD1 (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267310	NM_019116.3(UBFD1):c.128C>T (p.Ala43Val)	UBFD1 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219913	NM_019116.3(UBFD1):c.155G>A (p.Gly52Asp)	UBFD1 (G52D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206352	NM_019116.3(UBFD1):c.643A>G (p.Thr215Ala)	UBFD1 (T215A)	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 1460044	NC_000016.9:g.(?_23464127)_(23635435_?)del	COG7, EARS2 +4 more	Deletion	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 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
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 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 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 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 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
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

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: 56