18402[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 2613271	NM_001286077.2(UBXN1):c.844+61G>A	UBXN1 (G302E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185900	NM_001286077.2(UBXN1):c.786T>A (p.Ser262Arg)	UBXN1 (S203R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641889	NM_001286077.2(UBXN1):c.745G>C (p.Glu249Gln)	UBXN1 (E190Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2317819	NM_001286077.2(UBXN1):c.697C>G (p.Arg233Gly)	UBXN1 (R233G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360663	NM_001286077.2(UBXN1):c.692G>A (p.Arg231Gln)	UBXN1 (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474562	NM_001286077.2(UBXN1):c.691C>T (p.Arg231Trp)	UBXN1 (R172W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458942	NM_001286077.2(UBXN1):c.641G>C (p.Cys214Ser)	UBXN1 (C214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231265	NM_001286077.2(UBXN1):c.628G>A (p.Glu210Lys)	UBXN1 (E210K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326228	NM_001286077.2(UBXN1):c.504C>G (p.Ile168Met)	UBXN1 (I168M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185898	NM_001286077.2(UBXN1):c.452G>T (p.Arg151Leu)	UBXN1 (R92L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382140	NM_001286077.2(UBXN1):c.283A>G (p.Thr95Ala)	UBXN1 (T95A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236400	NM_001286077.2(UBXN1):c.245G>T (p.Gly82Val)	UBXN1 (G82V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641890	NM_001286077.2(UBXN1):c.221-14TTGT[2]	UBXN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3185897	NM_001286077.2(UBXN1):c.194C>G (p.Thr65Ser)	UBXN1 (T65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641891	NM_001286077.2(UBXN1):c.177C>T (p.Ile59=)	UBXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3330733	NM_001286077.2(UBXN1):c.119T>C (p.Met40Thr)	UBXN1 (M40T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330734	NM_001286077.2(UBXN1):c.92G>C (p.Gly31Ala)	UBXN1 (G31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185901	NM_001286077.2(UBXN1):c.83G>A (p.Gly28Glu)	UBXN1 (G28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185899	NM_001286077.2(UBXN1):c.68C>T (p.Ala23Val)	UBXN1 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479639	NM_001286077.2(UBXN1):c.19C>G (p.Leu7Val)	LOC130005848, UBXN1 (L7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244693	NC_000011.9:g.(?_62439218)_(62470041_?)dup	BSCL2, LBHD1 +3 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1411712	NC_000011.9:g.(?_62380754)_(62472984_?)dup	B3GAT3, BSCL2 +8 more	Duplication	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 37