410[HGNC] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 2348560	NM_000694.4(ALDH3B1):c.25C>T (p.Arg9Trp)	ALDH3B1 (R9W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361588	NM_000694.4(ALDH3B1):c.50C>T (p.Ala17Val)	ALDH3B1 (A17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245988	NM_000694.4(ALDH3B1):c.139G>A (p.Ala47Thr)	ALDH3B1 (A47T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109558	NM_000694.4(ALDH3B1):c.680C>T (p.Thr227Ile)	ALDH3B1 (T31I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109559	NM_000694.4(ALDH3B1):c.705C>T (p.Phe235=)	ALDH3B1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2509602	NM_000694.4(ALDH3B1):c.719C>T (p.Ala240Val)	ALDH3B1 (A44V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362598	NM_000694.4(ALDH3B1):c.982G>C (p.Glu328Gln)	ALDH3B1 (E211Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517582	NM_000694.4(ALDH3B1):c.1180C>T (p.His394Tyr)	ALDH3B1 (H198Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512800	NM_000694.4(ALDH3B1):c.1296C>T (p.Ser432=)	ALDH3B1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2226143	NM_000694.4(ALDH3B1):c.1324C>T (p.Arg442Cys)	ALDH3B1 (R325C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109544	NM_000694.4(ALDH3B1):c.1344G>A (p.Pro448=)	ALDH3B1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2424414	NC_000011.9:g.(?_67759017)_(68216538_?)dup	ALDH3B1, C11orf24 +6 more	Duplication	not provided	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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 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 393897	GRCh37/hg19 11q13.2(chr11:67764080-67811086)x3	ALDH3B1, NDUFS8 +2 more	Copy number gain	See cases	GBenign

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Items: 23