FAM133B[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 3277150	NM_152789.4(FAM133B):c.678G>C (p.Lys226Asn)	FAM133B (K216N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559663	NM_152789.4(FAM133B):c.631A>C (p.Ser211Arg)	FAM133B (S201R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301540	NM_152789.4(FAM133B):c.463A>C (p.Lys155Gln)	FAM133B (K145Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277148	NM_152789.4(FAM133B):c.441G>A (p.Met147Ile)	FAM133B (M147I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091790	NM_152789.4(FAM133B):c.391C>T (p.Arg131Trp)	FAM133B (R121W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483159	NM_152789.4(FAM133B):c.221A>G (p.Glu74Gly)	FAM133B (E64G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091789	NM_152789.4(FAM133B):c.161G>T (p.Gly54Val)	FAM133B (G44V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613292	NM_152789.4(FAM133B):c.143T>C (p.Leu48Pro)	FAM133B (L48P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091791	NM_152789.4(FAM133B):c.46A>G (p.Met16Val)	FAM133B (M6V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527377	GRCh37/hg19 7q21.2-21.3(chr7:92044792-93320149)	CALCR, CDK6 +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 22