"Ambry Genetics"[submitter] AND "FAM86B1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2530252	NM_001083537.4(FAM86B1):c.867G>A (p.Met289Ile)	FAM86B1 (M289I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294186	NM_001083537.4(FAM86B1):c.828T>G (p.His276Gln)	FAM86B1 (H276Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092674	NM_001083537.4(FAM86B1):c.824A>C (p.His275Pro)	FAM86B1 (H275P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381803	NM_001083537.4(FAM86B1):c.784G>A (p.Glu262Lys)	FAM86B1 (E262K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515888	NM_001083537.4(FAM86B1):c.764C>T (p.Thr255Met)	FAM86B1 (T255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092673	NM_001083537.4(FAM86B1):c.760G>C (p.Glu254Gln)	FAM86B1 (E254Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092672	NM_001083537.4(FAM86B1):c.752G>A (p.Arg251His)	FAM86B1 (R251H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383003	NM_001083537.4(FAM86B1):c.718C>T (p.Arg240Trp)	FAM86B1 (A151V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380648	NM_001083537.4(FAM86B1):c.707G>A (p.Arg236Gln)	FAM86B1 (R236Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2343448	NM_001083537.4(FAM86B1):c.697G>C (p.Ala233Pro)	FAM86B1 (A233P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346795	NM_001083537.4(FAM86B1):c.689A>G (p.Gln230Arg)	FAM86B1 (Q230R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2372837	NM_001083537.4(FAM86B1):c.682G>T (p.Val228Phe)	FAM86B1 (V228F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372898	NM_001083537.4(FAM86B1):c.679G>A (p.Gly227Arg)	FAM86B1 (R138Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459272	NM_001083537.4(FAM86B1):c.676G>A (p.Val226Ile)	FAM86B1 (V226I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237620	NM_001083537.4(FAM86B1):c.611C>T (p.Ala204Val)	FAM85A, FAM86B1 (A204V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2207668	NM_001083537.4(FAM86B1):c.603G>C (p.Gln201His)	FAM85A, FAM86B1 (Q201H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3092671	NM_001083537.4(FAM86B1):c.596T>C (p.Val199Ala)	FAM85A, FAM86B1 (V199A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2400609	NM_001083537.4(FAM86B1):c.583G>A (p.Asp195Asn)	FAM85A, FAM86B1 (D195N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2383002	NM_001083537.4(FAM86B1):c.569C>T (p.Ala190Val)	FAM85A, FAM86B1 (A190V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2343585	NM_001083537.4(FAM86B1):c.549C>A (p.Asp183Glu)	FAM85A, FAM86B1 (D183E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2511800	NM_001083537.4(FAM86B1):c.473G>A (p.Arg158Gln)	FAM85A, FAM86B1 (R158Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355376	NM_001083537.4(FAM86B1):c.464C>G (p.Pro155Arg)	FAM85A, FAM86B1 (P155R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355375	NM_001083537.4(FAM86B1):c.463C>T (p.Pro155Ser)	FAM85A, FAM86B1 (P155S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3092670	NM_001083537.4(FAM86B1):c.458G>A (p.Ser153Asn)	FAM85A, FAM86B1 (S153N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387642	NM_001083537.4(FAM86B1):c.448T>A (p.Tyr150Asn)	FAM85A, FAM86B1 (Y150N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2329951	NM_001083537.4(FAM86B1):c.443G>C (p.Arg148Pro)	FAM85A, FAM86B1 (R148P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305873	NM_001083537.4(FAM86B1):c.437G>T (p.Arg146Leu)	FAM85A, FAM86B1 (R146L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3092669	NM_001083537.4(FAM86B1):c.436C>T (p.Arg146Cys)	FAM85A, FAM86B1 (R146C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463057	NM_001083537.4(FAM86B1):c.419C>T (p.Ala140Val)	FAM85A, FAM86B1 (A140V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3092668	NM_001083537.4(FAM86B1):c.375G>C (p.Arg125Ser)	FAM85A, FAM86B1 (R125S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2399328	NM_001083537.4(FAM86B1):c.349G>A (p.Glu117Lys)	FAM85A, FAM86B1 (E117K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3092667	NM_001083537.4(FAM86B1):c.346A>T (p.Ile116Phe)	FAM85A, FAM86B1 (I116F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352727	NM_001083537.4(FAM86B1):c.292G>A (p.Gly98Ser)	FAM85A, FAM86B1 (G98S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528893	NM_001083537.4(FAM86B1):c.290A>C (p.His97Pro)	FAM85A, FAM86B1 (H97P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2213381	NM_001083537.4(FAM86B1):c.256G>T (p.Val86Phe)	FAM85A, FAM86B1 (V86F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2205522	NM_001083537.4(FAM86B1):c.215G>T (p.Cys72Phe)	FAM85A, FAM86B1 (C72F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2286227	NM_001083537.4(FAM86B1):c.169C>T (p.His57Tyr)	FAM85A, FAM86B1 (H57Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296369	NM_001083537.4(FAM86B1):c.68T>C (p.Val23Ala)	FAM85A, FAM86B1 (V23A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2296368	NM_001083537.4(FAM86B1):c.65C>T (p.Ala22Val)	FAM85A, FAM86B1 (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244443	NM_001083537.4(FAM86B1):c.55C>G (p.Arg19Gly)	FAM85A, FAM86B1 (R19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296367	NM_001083537.4(FAM86B1):c.52C>A (p.Arg18Ser)	FAM85A, FAM86B1 (R18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515763	NM_001083537.4(FAM86B1):c.51G>T (p.Glu17Asp)	FAM85A, FAM86B1 (E17D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569087	NM_001083537.4(FAM86B1):c.25A>G (p.Thr9Ala)	FAM85A, FAM86B1 (T9A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2621289	NM_001083537.4(FAM86B1):c.4G>C (p.Ala2Pro)	FAM85A, FAM86B1 (A2P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 44