FAM180B[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 145004	GRCh38/hg38 11p11.2(chr11:47568261-47595569)x3	C1QTNF4, FAM180B +5 more	Copy number gain	See cases	GBenign
Select item 2293737	NM_001164379.3(FAM180B):c.8C>T (p.Ala3Val)	FAM180B (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3092078	NM_001164379.3(FAM180B):c.89A>G (p.Gln30Arg)	FAM180B (Q30R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526059	NM_001164379.3(FAM180B):c.137C>A (p.Ala46Asp)	FAM180B (A46D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092075	NM_001164379.3(FAM180B):c.140C>T (p.Pro47Leu)	FAM180B (P47L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277278	NM_001164379.3(FAM180B):c.150G>A (p.Met50Ile)	FAM180B (M50I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213858	NM_001164379.3(FAM180B):c.238C>T (p.Arg80Cys)	FAM180B (R80C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610073	NM_001164379.3(FAM180B):c.331C>T (p.Pro111Ser)	FAM180B (P111S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277279	NM_001164379.3(FAM180B):c.391C>T (p.Arg131Trp)	FAM180B (R119W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277276	NM_001164379.3(FAM180B):c.392G>T (p.Arg131Leu)	FAM180B (R119L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092076	NM_001164379.3(FAM180B):c.400G>A (p.Ala134Thr)	FAM180B (A122T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092077	NM_001164379.3(FAM180B):c.422G>A (p.Arg141Gln)	FAM180B (R141Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252528	NM_001164379.3(FAM180B):c.484G>A (p.Gly162Ser)	FAM180B (G112S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306670	NM_001164379.3(FAM180B):c.526G>T (p.Ala176Ser)	FAM180B (A114S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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

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Items: 25