ClinVar for Gene (Select 221120) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111712	NM_139178.4(ALKBH3):c.548A>G (p.Asn183Ser)	ALKBH3 (N183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111709	NM_139178.4(ALKBH3):c.509G>A (p.Gly170Asp)	ALKBH3 (G170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111704	NM_139178.4(ALKBH3):c.489C>A (p.Asn163Lys)	ALKBH3 (N163K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111701	NM_139178.4(ALKBH3):c.481C>G (p.Leu161Val)	ALKBH3 (L161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111682	NM_139178.4(ALKBH3):c.224A>G (p.Glu75Gly)	ALKBH3 (E75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111675	NM_139178.4(ALKBH3):c.129G>T (p.Lys43Asn)	ALKBH3 (K43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601811	NM_139178.4(ALKBH3):c.209G>A (p.Arg70Gln)	ALKBH3 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592151	NM_139178.4(ALKBH3):c.43G>A (p.Ala15Thr)	ALKBH3 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547228	NM_139178.4(ALKBH3):c.145C>T (p.Leu49Phe)	ALKBH3 (L49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492183	NM_139178.4(ALKBH3):c.307G>A (p.Asp103Asn)	ALKBH3 (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401086	NM_139178.4(ALKBH3):c.400G>T (p.Ala134Ser)	ALKBH3 (A134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389847	NM_139178.4(ALKBH3):c.460T>G (p.Trp154Gly)	ALKBH3 (W154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366522	NM_139178.4(ALKBH3):c.444G>A (p.Met148Ile)	ALKBH3 (M148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352047	NM_139178.4(ALKBH3):c.421T>C (p.Tyr141His)	ALKBH3 (Y141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309632	NM_139178.4(ALKBH3):c.700A>G (p.Arg234Gly)	ALKBH3, ALKBH3-AS1 (R234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273909	NM_139178.4(ALKBH3):c.545G>T (p.Arg182Leu)	ALKBH3 (R182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256367	NM_139178.4(ALKBH3):c.493A>G (p.Ile165Val)	ALKBH3 (I165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232482	NM_139178.4(ALKBH3):c.215T>C (p.Ile72Thr)	ALKBH3 (I72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707462	Single allele	ACCS, ACCSL +63 more	Duplication	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703555	GRCh37/hg19 11p11.2(chr11:43769957-44952669)	ACCS, ACCSL +7 more	Copy number loss	Potocki-Shaffer syndrome	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979923	GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3	ALKBH3, API5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815430	GRCh37/hg19 11p11.2(chr11:43757860-44118731)x3	HSD17B12, EXT2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815429	GRCh37/hg19 11p11.2(chr11:43664817-44889240)x3	CD82, C11orf96 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685774	GRCh37/hg19 11p11.2(chr11:43732634-43973830)x1	ALKBH3, C11orf96 +1 more	Copy number loss	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 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +71 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	ACCS, ACCSL +111 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +258 more	Copy number loss	See cases	GPathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +73 more	Copy number gain	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38