FAM149B1[gene] and "single gene"[properties] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148839	NM_173348.2(FAM149B1):c.2T>G (p.Met1Arg)	FAM149B1 (M1R)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 36 +1 more	GUncertain significance
Select item 2244338	NM_173348.2(FAM149B1):c.55A>T (p.Ile19Leu)	FAM149B1 (I19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091898	NM_173348.2(FAM149B1):c.166A>G (p.Thr56Ala)	FAM149B1 (T56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592175	NM_173348.2(FAM149B1):c.173A>C (p.Glu58Ala)	FAM149B1 (E58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510345	NM_173348.2(FAM149B1):c.178T>C (p.Ser60Pro)	FAM149B1 (S60P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462873	NM_173348.2(FAM149B1):c.179C>G (p.Ser60Cys)	FAM149B1 (S60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393997	NM_173348.2(FAM149B1):c.187T>G (p.Ser63Ala)	FAM149B1 (S63A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2662532	NM_173348.2(FAM149B1):c.234C>T (p.Gly78=)	FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2640583	NM_173348.2(FAM149B1):c.300C>T (p.Ala100=)	FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3277190	NM_173348.2(FAM149B1):c.349G>A (p.Glu117Lys)	FAM149B1 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 810829	NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs)	FAM149B1 (K119fs)	Deletion (frameshift variant)	Joubert syndrome 36	GLikely pathogenic
Select item 3091899	NM_173348.2(FAM149B1):c.410G>A (p.Ser137Asn)	FAM149B1 (S137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280238	NM_173348.2(FAM149B1):c.413T>G (p.Phe138Cys)	FAM149B1 (F138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 810830	NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter)	FAM149B1 (Q147*)	Single nucleotide variant (nonsense)	Joubert syndrome 36	GPathogenic
Select item 3091900	NM_173348.2(FAM149B1):c.499G>A (p.Ala167Thr)	FAM149B1 (A167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622641	NM_173348.2(FAM149B1):c.515C>T (p.Thr172Ile)	FAM149B1 (T172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316865	NM_173348.2(FAM149B1):c.515C>A (p.Thr172Asn)	FAM149B1 (T172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527337	NM_173348.2(FAM149B1):c.518T>C (p.Leu173Ser)	FAM149B1 (L173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640584	NM_173348.2(FAM149B1):c.585T>C (p.Tyr195=)	FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3368703	NM_173348.2(FAM149B1):c.592_598del (p.Lys198fs)	FAM149B1 (K198fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3277192	NM_173348.2(FAM149B1):c.602C>G (p.Ser201Cys)	FAM149B1 (S201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640585	NM_173348.2(FAM149B1):c.621C>T (p.Ser207=)	FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672401	NM_173348.2(FAM149B1):c.660C>A (p.Ile220=)	FAM149B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3368808	NM_173348.2(FAM149B1):c.666_669del (p.Glu223_Gly224insTer)	FAM149B1	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3091901	NM_173348.2(FAM149B1):c.713A>T (p.Glu238Val)	FAM149B1 (E238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091902	NM_173348.2(FAM149B1):c.789T>G (p.Phe263Leu)	FAM149B1 (F263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091904	NM_173348.2(FAM149B1):c.848T>C (p.Val283Ala)	FAM149B1 (V283A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091905	NM_173348.2(FAM149B1):c.917C>A (p.Ala306Glu)	FAM149B1 (A306E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361649	NM_173348.2(FAM149B1):c.931G>A (p.Asp311Asn)	FAM149B1 (D311N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373397	NM_173348.2(FAM149B1):c.1022C>T (p.Pro341Leu)	FAM149B1 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577200	NM_173348.2(FAM149B1):c.1023G>C (p.Pro341=)	FAM149B1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2505232	NM_173348.2(FAM149B1):c.1023+35G>T	FAM149B1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2640586	NM_173348.2(FAM149B1):c.1028G>C (p.Ser343Thr)	FAM149B1 (S343T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3091890	NM_173348.2(FAM149B1):c.1068T>G (p.Asp356Glu)	FAM149B1 (D356E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091891	NM_173348.2(FAM149B1):c.1079A>G (p.His360Arg)	FAM149B1 (H360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320079	NM_173348.2(FAM149B1):c.1093C>G (p.Gln365Glu)	FAM149B1 (Q365E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091892	NM_173348.2(FAM149B1):c.1106T>G (p.Leu369Arg)	FAM149B1 (L369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3237515	NM_173348.2(FAM149B1):c.1127+1G>A	FAM149B1	Single nucleotide variant (splice donor variant)	Joubert syndrome 36	GPathogenic

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Items: 38