FTSJ1[gene] and "single gene"[properties] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150944	GRCh38/hg38 Xp11.23(chrX:48476537-48477781)x3	FTSJ1	Copy number gain	See cases	GLikely benign
Select item 151034	GRCh38/hg38 Xp11.23(chrX:48476762-48477781)x2	FTSJ1	Copy number gain	See cases	GLikely benign
Select item 208659	NM_012280.4(FTSJ1):c.34T>A (p.Tyr12Asn)	FTSJ1 (Y12N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1183994	NM_012280.4(FTSJ1):c.61_64del (p.Trp21fs)	FTSJ1 (W21fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1695296	NM_012280.4(FTSJ1):c.70C>T (p.Arg24Cys)	FTSJ1 (R24C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 9 +1 more	GUncertain significance
Select item 1759727	NM_012280.4(FTSJ1):c.75C>T (p.Ser25=)	FTSJ1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2555586	NM_012280.4(FTSJ1):c.111A>C (p.Gln37His)	FTSJ1 (Q37H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 10896	NM_012280.4(FTSJ1):c.121+1del	FTSJ1	Deletion (intron variant +1 more)	Intellectual disability, X-linked 9	GPathogenic
Select item 723572	NM_012280.4(FTSJ1):c.121+9C>G	FTSJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3235746	NM_012280.4(FTSJ1):c.122-6G>C	FTSJ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2317952	NM_012280.4(FTSJ1):c.133del (p.Ala45fs)	FTSJ1 (A45fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 520557	NM_012280.4(FTSJ1):c.161G>C (p.Ser54Thr)	FTSJ1 (S54T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 521244	NM_012280.4(FTSJ1):c.187A>G (p.Ile63Val)	FTSJ1 (I63V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2576724	NM_012280.4(FTSJ1):c.189C>G (p.Ile63Met)	FTSJ1 (I63M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 748080	NM_012280.4(FTSJ1):c.190G>A (p.Gly64Arg)	FTSJ1 (G64R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1182161	NM_012280.4(FTSJ1):c.192-40G>A	FTSJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 10897	NM_012280.4(FTSJ1):c.192-2A>G	FTSJ1	Single nucleotide variant (intron variant +1 more)	Intellectual disability, X-linked 9	GPathogenic
Select item 3097391	NM_012280.4(FTSJ1):c.193G>A (p.Gly65Ser)	FTSJ1 (G65S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 10895	NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter)	FTSJ1 (Q66*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 9	GPathogenic
Select item 1785028	NM_012280.4(FTSJ1):c.204C>T (p.Ser68=)	FTSJ1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1785200	NM_012280.4(FTSJ1):c.205G>A (p.Gly69Ser)	FTSJ1 (G69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588851	NM_012280.4(FTSJ1):c.205G>T (p.Gly69Cys)	FTSJ1 (G69C)	Single nucleotide variant (missense variant +1 more)	History of neurodevelopmental disorder	GUncertain significance
Select item 1314054	NM_012280.4(FTSJ1):c.241C>G (p.Pro81Ala)	FTSJ1 (P81A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 975240	NM_012280.4(FTSJ1):c.256del (p.Val86fs)	FTSJ1 (V86fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 9	GPathogenic
Select item 197290	NM_012280.4(FTSJ1):c.270G>T (p.Gly90=)	FTSJ1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 749673	NM_012280.4(FTSJ1):c.273C>T (p.Asp91=)	FTSJ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1243336	NM_012280.4(FTSJ1):c.282+139T>C	FTSJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 751124	NM_012280.4(FTSJ1):c.303C>T (p.Ile101=)	FTSJ1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 726960	NM_012280.4(FTSJ1):c.304A>T (p.Ile102Phe)	FTSJ1 (I102F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 445659	NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu)	FTSJ1 (Q103E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3363237	NM_012280.4(FTSJ1):c.310C>T (p.His104Tyr)	FTSJ1 (H104Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 835012	NM_012280.4(FTSJ1):c.325C>T (p.Pro109Ser)	FTSJ1 (P109S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 871202	NM_012280.4(FTSJ1):c.329C>T (p.Ala110Val)	FTSJ1 (A110V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1732349	NM_012280.4(FTSJ1):c.352del (p.Ala118fs)	FTSJ1 (A118fs)	Deletion (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1235176	NM_012280.4(FTSJ1):c.362-252G>A	FTSJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981372	NM_012280.4(FTSJ1):c.362-2A>T	FTSJ1	Single nucleotide variant (intron variant +1 more)	Intellectual disability	GPathogenic
Select item 1733762	NM_012280.4(FTSJ1):c.366C>T (p.Thr122=)	FTSJ1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1336198	NM_012280.4(FTSJ1):c.366C>A (p.Thr122=)	FTSJ1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GUncertain significance
Select item 2430055	NM_012280.4(FTSJ1):c.367G>A (p.Gly123Ser)	FTSJ1 (G123S)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 589570	NM_012280.4(FTSJ1):c.409C>T (p.Leu137=)	FTSJ1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 1197882	NM_012280.4(FTSJ1):c.434A>G (p.His145Arg)	FTSJ1 (H145R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703277	NM_012280.4(FTSJ1):c.449G>A (p.Gly150Glu)	FTSJ1 (G13E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574503	NM_012280.4(FTSJ1):c.460G>A (p.Val154Met)	FTSJ1 (V154M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198550	NM_012280.4(FTSJ1):c.468G>A (p.Lys156=)	FTSJ1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 981373	NM_012280.4(FTSJ1):c.469-33_469-14del	FTSJ1	Deletion (intron variant)	Intellectual disability	GUncertain significance
Select item 708289	NM_012280.4(FTSJ1):c.469-7C>T	FTSJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1333963	NM_012280.4(FTSJ1):c.469A>G (p.Ile157Val)	FTSJ1 (I157V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 9	GUncertain significance
Select item 3363422	NM_012280.4(FTSJ1):c.471A>G (p.Ile157Met)	FTSJ1 (I157M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727624	NM_012280.4(FTSJ1):c.483G>A (p.Arg161=)	FTSJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 129119	NM_012280.4(FTSJ1):c.495C>T (p.Leu165=)	FTSJ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3033008	NM_012280.4(FTSJ1):c.571+10del	FTSJ1	Deletion (intron variant)	FTSJ1-related disorder	GLikely benign
Select item 1285660	NM_012280.4(FTSJ1):c.572-35C>T	FTSJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129117	NM_012280.4(FTSJ1):c.572-8C>T	FTSJ1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 589465	NM_012280.4(FTSJ1):c.580G>A (p.Ala194Thr)	FTSJ1 (A194T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1750767	NM_012280.4(FTSJ1):c.596A>G (p.Tyr199Cys)	FTSJ1 (Y199C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 506502	NM_012280.4(FTSJ1):c.600C>A (p.Asp200Glu)	FTSJ1 (D200E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2632429	NM_012280.4(FTSJ1):c.609G>C (p.Glu203Asp)	FTSJ1 (E203D +1 more)	Single nucleotide variant (missense variant)	FTSJ1-related disorder	GUncertain significance
Select item 1339858	NM_012280.4(FTSJ1):c.620del (p.Pro207fs)	FTSJ1 (P207fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 9	Gnot provided
Select item 723718	NM_012280.4(FTSJ1):c.654C>T (p.Tyr218=)	FTSJ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 10894	NM_012280.4(FTSJ1):c.655G>A (p.Asp219Asn)	FTSJ1 (D219N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 445581	NM_012280.4(FTSJ1):c.656-6C>G	FTSJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2635644	NM_012280.4(FTSJ1):c.695T>C (p.Ile232Thr)	FTSJ1 (I230T +2 more)	Single nucleotide variant (missense variant)	FTSJ1-related disorder	GUncertain significance
Select item 588358	NM_012280.4(FTSJ1):c.738G>A (p.Ser246=)	FTSJ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 431367	NM_012280.4(FTSJ1):c.742C>T (p.Arg248Cys)	FTSJ1 (R246C +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 9	GUncertain significance
Select item 129118	NM_012280.4(FTSJ1):c.762A>G (p.Leu254=)	FTSJ1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 916049	NM_012280.4(FTSJ1):c.769G>A (p.Gly257Ser)	FTSJ1 (G120S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1760592	NM_012280.4(FTSJ1):c.777G>A (p.Glu259=)	FTSJ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1336251	NM_012280.4(FTSJ1):c.786C>T (p.Tyr262=)	FTSJ1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3253090	NM_012280.4(FTSJ1):c.797C>T (p.Thr266Ile)	FTSJ1 (T129I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739256	NM_012280.4(FTSJ1):c.861C>G (p.Ala287=)	FTSJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593098	NM_012280.4(FTSJ1):c.868A>G (p.Ile290Val)	FTSJ1 (I288V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746463	NM_012280.4(FTSJ1):c.872G>A (p.Arg291His)	FTSJ1 (R154H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 624409	NM_012280.4(FTSJ1):c.877dup (p.Gln293fs)	FTSJ1 (Q291fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 590221	NM_012280.4(FTSJ1):c.893G>A (p.Ser298Asn)	FTSJ1 (S296N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3097392	NM_012280.4(FTSJ1):c.911C>T (p.Pro304Leu)	FTSJ1 (P304L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678296	NM_012280.4(FTSJ1):c.926C>A (p.Ala309Asp)	FTSJ1 (A172D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313966	NM_012280.4(FTSJ1):c.941C>A (p.Thr314Asn)	FTSJ1 (T177N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344378	NM_012280.4(FTSJ1):c.950C>T (p.Ala317Val)	FTSJ1 (A180V +2 more)	Single nucleotide variant (missense variant)	FTSJ1-related disorder	GUncertain significance
Select item 975239	NM_012280.4(FTSJ1):c.*8C>T	FTSJ1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 1809697	NM_012280.4(FTSJ1):c.*9G>A	FTSJ1	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 9	GUncertain significance
Select item 3360797	NM_012280.4(FTSJ1):c.694A>G (p.Ile232Val)	FTSJ1 (I230V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359023	NM_012280.4(FTSJ1):c.283-12CT[2]	FTSJ1	Microsatellite (intron variant)	Intellectual disability, X-linked 9	GUncertain significance

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Items: 82