Related gene-specific medical variations for Gene (Select 23234) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368809	NM_173348.2(FAM149B1):c.1192C>T (p.Pro398Ser)	DNAJC9, FAM149B1 (P398S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342982	NM_173348.2(FAM149B1):c.1396_1397del (p.Leu466fs)	FAM149B1, DNAJC9 (L466fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342802	NM_173348.2(FAM149B1):c.1610C>T (p.Thr537Ile)	DNAJC9, FAM149B1 (T537I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3277191	NM_173348.2(FAM149B1):c.1489G>A (p.Asp497Asn)	DNAJC9, FAM149B1 (D497N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273139	NM_015190.5(DNAJC9):c.71G>T (p.Arg24Leu)	DNAJC9, LOC126860955 (R24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3237481	NM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter)	DNAJC9, FAM149B1 (R400*)	Single nucleotide variant (nonsense)	Joubert syndrome 36	GPathogenic
Select item 3233977	NM_173348.2(FAM149B1):c.1128-2A>G	DNAJC9, FAM149B1	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 3091897	NM_173348.2(FAM149B1):c.1343G>A (p.Gly448Glu)	DNAJC9, FAM149B1 (G448E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091896	NM_173348.2(FAM149B1):c.1273A>G (p.Thr425Ala)	DNAJC9, FAM149B1 (T425A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091895	NM_173348.2(FAM149B1):c.1199G>A (p.Arg400Gln)	DNAJC9, FAM149B1 (R400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091893	NM_173348.2(FAM149B1):c.1188T>G (p.Asn396Lys)	DNAJC9, FAM149B1 (N396K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065140	NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)	DNAJC9, FAM149B1 (R468*)	Single nucleotide variant (nonsense)	Joubert syndrome 36	GLikely pathogenic
Select item 3047727	NM_173348.2(FAM149B1):c.1389G>A (p.Pro463=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	FAM149B1-related disorder	GLikely benign
Select item 3039524	NM_173348.2(FAM149B1):c.1417C>T (p.Pro473Ser)	DNAJC9, FAM149B1 (P473S)	Single nucleotide variant (missense variant)	FAM149B1-related disorder	GLikely benign
Select item 3025492	NM_173348.2(FAM149B1):c.1626A>G (p.Ser542=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689041	NM_173348.2(FAM149B1):c.1563_1567del (p.Asp522fs)	DNAJC9, FAM149B1 (D522fs)	Deletion (frameshift variant)	Joubert syndrome 36	GUncertain significance
Select item 2689040	NM_173348.2(FAM149B1):c.1189T>G (p.Trp397Gly)	DNAJC9, FAM149B1 (W397G)	Single nucleotide variant (missense variant)	Joubert syndrome 36	GUncertain significance
Select item 2672402	NM_173348.2(FAM149B1):c.1485T>C (p.His495=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640587	NM_173348.2(FAM149B1):c.1482C>T (p.Pro494=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530170	NM_173348.2(FAM149B1):c.1631C>T (p.Ala544Val)	DNAJC9, FAM149B1 (A544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505233	NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)	DNAJC9, FAM149B1 (R395*)	Single nucleotide variant (nonsense)	Joubert syndrome 36	GLikely pathogenic
Select item 2491551	NM_173348.2(FAM149B1):c.1184G>A (p.Arg395Gln)	DNAJC9, FAM149B1 (R395Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484414	NM_173348.2(FAM149B1):c.1648C>A (p.Gln550Lys)	DNAJC9, FAM149B1 (Q550K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455465	NM_173348.2(FAM149B1):c.1391C>A (p.Thr464Lys)	DNAJC9, FAM149B1 (T464K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388178	NM_173348.2(FAM149B1):c.1255C>T (p.Arg419Cys)	DNAJC9, FAM149B1 (R419C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374141	NM_173348.2(FAM149B1):c.1345G>C (p.Ala449Pro)	DNAJC9, FAM149B1 (A449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371495	NM_173348.2(FAM149B1):c.1237G>A (p.Val413Met)	DNAJC9, FAM149B1 (V413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367861	NM_173348.2(FAM149B1):c.1618C>T (p.Arg540Cys)	DNAJC9, FAM149B1 (R540C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361458	NM_015190.5(DNAJC9):c.692T>C (p.Met231Thr)	DNAJC9, FAM149B1 (M231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360865	NM_173348.2(FAM149B1):c.1349G>A (p.Arg450Gln)	DNAJC9, FAM149B1 (R450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360673	NM_173348.2(FAM149B1):c.1516G>A (p.Val506Met)	DNAJC9, FAM149B1 (V506M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339601	NM_173348.2(FAM149B1):c.1643C>T (p.Pro548Leu)	DNAJC9, FAM149B1 (P548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325965	NM_173348.2(FAM149B1):c.1345G>A (p.Ala449Thr)	DNAJC9, FAM149B1 (A449T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322848	NM_015190.5(DNAJC9):c.221A>T (p.Gln74Leu)	DNAJC9, LOC126860955 (Q74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286578	NM_173348.2(FAM149B1):c.1212T>G (p.Phe404Leu)	DNAJC9, FAM149B1 (F404L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261977	NM_015190.5(DNAJC9):c.203T>C (p.Val68Ala)	DNAJC9, LOC126860955 (V68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244756	NM_015190.5(DNAJC9):c.633A>C (p.Glu211Asp)	DNAJC9, FAM149B1 (E211D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238986	NM_173348.2(FAM149B1):c.1589C>G (p.Thr530Ser)	DNAJC9, FAM149B1 (T530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711259	NM_173348.2(FAM149B1):c.1551G>A (p.Arg517=)	DNAJC9, FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Links from Gene

Items: 39