"Ambry Genetics"[submitter] AND "FAM149B1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2244338	NM_173348.2(FAM149B1):c.55A>T (p.Ile19Leu)	FAM149B1 (I19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592175	NM_173348.2(FAM149B1):c.173A>C (p.Glu58Ala)	FAM149B1 (E58A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510345	NM_173348.2(FAM149B1):c.178T>C (p.Ser60Pro)	FAM149B1 (S60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2462873	NM_173348.2(FAM149B1):c.179C>G (p.Ser60Cys)	FAM149B1 (S60C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393997	NM_173348.2(FAM149B1):c.187T>G (p.Ser63Ala)	FAM149B1 (S63A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2280238	NM_173348.2(FAM149B1):c.413T>G (p.Phe138Cys)	FAM149B1 (F138C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622641	NM_173348.2(FAM149B1):c.515C>T (p.Thr172Ile)	FAM149B1 (T172I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316865	NM_173348.2(FAM149B1):c.515C>A (p.Thr172Asn)	FAM149B1 (T172N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527337	NM_173348.2(FAM149B1):c.518T>C (p.Leu173Ser)	FAM149B1 (L173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361649	NM_173348.2(FAM149B1):c.931G>A (p.Asp311Asn)	FAM149B1 (D311N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373397	NM_173348.2(FAM149B1):c.1022C>T (p.Pro341Leu)	FAM149B1 (P341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320079	NM_173348.2(FAM149B1):c.1093C>G (p.Gln365Glu)	FAM149B1 (Q365E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491551	NM_173348.2(FAM149B1):c.1184G>A (p.Arg395Gln)	FAM149B1, DNAJC9 (R395Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286578	NM_173348.2(FAM149B1):c.1212T>G (p.Phe404Leu)	FAM149B1, DNAJC9 (F404L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371495	NM_173348.2(FAM149B1):c.1237G>A (p.Val413Met)	DNAJC9, FAM149B1 (V413M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388178	NM_173348.2(FAM149B1):c.1255C>T (p.Arg419Cys)	FAM149B1, DNAJC9 (R419C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374141	NM_173348.2(FAM149B1):c.1345G>C (p.Ala449Pro)	DNAJC9, FAM149B1 (A449P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325965	NM_173348.2(FAM149B1):c.1345G>A (p.Ala449Thr)	FAM149B1, DNAJC9 (A449T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360865	NM_173348.2(FAM149B1):c.1349G>A (p.Arg450Gln)	DNAJC9, FAM149B1 (R450Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455465	NM_173348.2(FAM149B1):c.1391C>A (p.Thr464Lys)	DNAJC9, FAM149B1 (T464K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360673	NM_173348.2(FAM149B1):c.1516G>A (p.Val506Met)	DNAJC9, FAM149B1 (V506M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238986	NM_173348.2(FAM149B1):c.1589C>G (p.Thr530Ser)	FAM149B1, DNAJC9 (T530S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367861	NM_173348.2(FAM149B1):c.1618C>T (p.Arg540Cys)	DNAJC9, FAM149B1 (R540C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530170	NM_173348.2(FAM149B1):c.1631C>T (p.Ala544Val)	DNAJC9, FAM149B1 (A544V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339601	NM_173348.2(FAM149B1):c.1643C>T (p.Pro548Leu)	DNAJC9, FAM149B1 (P548L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484414	NM_173348.2(FAM149B1):c.1648C>A (p.Gln550Lys)	FAM149B1, DNAJC9 (Q550K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361458	NM_015190.5(DNAJC9):c.692T>C (p.Met231Thr)	DNAJC9, FAM149B1 (M231T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244756	NM_015190.5(DNAJC9):c.633A>C (p.Glu211Asp)	FAM149B1, DNAJC9 (E211D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 28