CSKMT[gene] - ClinVar

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Items: 32

	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 3078055	NM_001043229.2(CSKMT):c.91G>A (p.Ala31Thr)	CSKMT, LBHD1 +1 more (A31T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726523	NM_001043229.2(CSKMT):c.181C>T (p.Gln61Ter)	CSKMT, LBHD1 +1 more (Q61*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 3078045	NM_001043229.2(CSKMT):c.233G>C (p.Arg78Pro)	CSKMT, LBHD1 +1 more (R78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078046	NM_001043229.2(CSKMT):c.248G>C (p.Gly83Ala)	CSKMT, LBHD1 +1 more (G83A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078047	NM_001043229.2(CSKMT):c.268T>C (p.Cys90Arg)	CSKMT, LBHD1 +1 more (C90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078048	NM_001043229.2(CSKMT):c.347T>G (p.Met116Arg)	CSKMT, LBHD1 (M116R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078050	NM_001043229.2(CSKMT):c.353G>T (p.Ser118Ile)	CSKMT, LBHD1 (S118I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078051	NM_001043229.2(CSKMT):c.398A>G (p.His133Arg)	CSKMT, LBHD1 (H133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078052	NM_001043229.2(CSKMT):c.511C>T (p.Arg171Trp)	CSKMT, LBHD1 (R171W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078053	NM_001043229.2(CSKMT):c.512G>C (p.Arg171Pro)	CSKMT, LBHD1 (R171P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570350	NM_001043229.2(CSKMT):c.556A>G (p.Arg186Gly)	CSKMT, LBHD1 (R186G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623396	NM_001043229.2(CSKMT):c.650C>G (p.Thr217Ser)	CSKMT, LBHD1 (T217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078054	NM_001043229.2(CSKMT):c.674C>T (p.Pro225Leu)	CSKMT, LBHD1 (P225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612892	NM_024099.5(LBHD1):c.391G>A (p.Asp131Asn)	CSKMT, LBHD1 (D131N +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2487654	NM_024099.5(LBHD1):c.390G>C (p.Gln130His)	CSKMT, LBHD1 (Q155H +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2478688	NM_024099.5(LBHD1):c.346C>G (p.Pro116Ala)	CSKMT, LBHD1 (P142A +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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	ACTN3, ACY3 +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	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1411712	NC_000011.9:g.(?_62380754)_(62472984_?)dup	B3GAT3, GANAB +8 more	Duplication	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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: 32