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

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775122	NM_001201539.2(ARSF):c.18C>G (p.Pro6=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598955	NM_001201539.2(ARSF):c.81C>G (p.Asp27Glu)	ARSF (D27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222415	NM_001201539.2(ARSF):c.145G>A (p.Gly49Ser)	ARSF (G49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659867	NM_001201539.2(ARSF):c.161+7C>T	ARSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3042994	NM_001201539.2(ARSF):c.165G>A (p.Thr55=)	ARSF	Single nucleotide variant (synonymous variant)	ARSF-related disorder	GLikely benign
Select item 3129890	NM_001201539.2(ARSF):c.175G>C (p.Asp59His)	ARSF (D59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484621	NM_001201539.2(ARSF):c.191A>G (p.Glu64Gly)	ARSF (E64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387447	NM_001201539.2(ARSF):c.236G>T (p.Ser79Ile)	ARSF (S79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318542	NM_001201539.2(ARSF):c.334G>T (p.Ala112Ser)	ARSF (A112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659868	NM_001201539.2(ARSF):c.363del (p.Ala122fs)	ARSF (A122fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3129891	NM_001201539.2(ARSF):c.397G>A (p.Gly133Arg)	ARSF (G133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041701	NM_001201539.2(ARSF):c.535C>T (p.Arg179Cys)	ARSF (R179C)	Single nucleotide variant (missense variant)	ARSF-related disorder	GLikely benign
Select item 2591287	NM_001201539.2(ARSF):c.584T>C (p.Leu195Pro)	ARSF (L195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659869	NM_001201539.2(ARSF):c.600C>T (p.Ile200=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2234769	NM_001201539.2(ARSF):c.608T>C (p.Leu203Pro)	ARSF (L203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129892	NM_001201539.2(ARSF):c.675T>G (p.Phe225Leu)	ARSF (F225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041570	NM_001201539.2(ARSF):c.689G>A (p.Gly230Asp)	ARSF (G230D)	Single nucleotide variant (missense variant)	ARSF-related disorder	GBenign
Select item 3040847	NM_001201539.2(ARSF):c.716C>A (p.Ser239Tyr)	ARSF (S239Y)	Single nucleotide variant (missense variant)	ARSF-related disorder	GLikely benign
Select item 2406593	NM_001201539.2(ARSF):c.745C>T (p.Arg249Trp)	ARSF (R249W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129893	NM_001201539.2(ARSF):c.746G>T (p.Arg249Leu)	ARSF (R249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659870	NM_001201539.2(ARSF):c.761C>T (p.Thr254Met)	ARSF (T254M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2515623	NM_001201539.2(ARSF):c.784C>G (p.Arg262Gly)	ARSF (R262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344052	NM_001201539.2(ARSF):c.827A>G (p.Glu276Gly)	ARSF (E276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330933	NM_001201539.2(ARSF):c.849C>G (p.Phe283Leu)	ARSF (F283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659871	NM_001201539.2(ARSF):c.852T>C (p.Leu284=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129894	NM_001201539.2(ARSF):c.968G>A (p.Gly323Asp)	ARSF (G323D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043061	NM_001201539.2(ARSF):c.1004G>A (p.Arg335Lys)	ARSF (R335K)	Single nucleotide variant (missense variant)	ARSF-related disorder	GBenign
Select item 2659872	NM_001201539.2(ARSF):c.1041A>G (p.Gly347=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282541	NM_001201539.2(ARSF):c.1075C>G (p.Leu359Val)	ARSF (L359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771943	NM_001201539.2(ARSF):c.1102+5G>A	ARSF	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2337236	NM_001201539.2(ARSF):c.1115T>C (p.Met372Thr)	ARSF (M372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456693	NM_001201539.2(ARSF):c.1139G>A (p.Arg380His)	ARSF (R380H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269224	NM_001201539.2(ARSF):c.1163C>G (p.Pro388Arg)	ARSF (P388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243485	NM_001201539.2(ARSF):c.1202C>T (p.Thr401Ile)	ARSF (T401I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129887	NM_001201539.2(ARSF):c.1271T>C (p.Ile424Thr)	ARSF (I424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361762	NM_001201539.2(ARSF):c.1276G>A (p.Gly426Ser)	ARSF (G426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381661	NM_001201539.2(ARSF):c.1277G>A (p.Gly426Asp)	ARSF (G426D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523986	NM_001201539.2(ARSF):c.1280G>A (p.Arg427Gln)	ARSF (R427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659873	NM_001201539.2(ARSF):c.1308C>T (p.Asn436=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129888	NM_001201539.2(ARSF):c.1421C>T (p.Thr474Ile)	ARSF (T474I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041861	NM_001201539.2(ARSF):c.1443T>A (p.Ala481=)	ARSF	Single nucleotide variant (synonymous variant)	ARSF-related disorder	GLikely benign
Select item 2278384	NM_001201539.2(ARSF):c.1504A>C (p.Asn502His)	ARSF (N502H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600734	NM_001201539.2(ARSF):c.1506C>A (p.Asn502Lys)	ARSF (N502K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496290	NM_001201539.2(ARSF):c.1507C>T (p.Pro503Ser)	ARSF (P503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381715	NM_001201539.2(ARSF):c.1625A>G (p.Gln542Arg)	ARSF (Q542R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2659874	NM_001201539.2(ARSF):c.1689G>A (p.Lys563=)	ARSF	Single nucleotide variant (synonymous variant)	ARSF-related disorder +1 more	GLikely benign
Select item 2266779	NM_001201539.2(ARSF):c.1702G>T (p.Val568Leu)	ARSF (V568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771944	NM_001201539.2(ARSF):c.18_67dup (p.Gly585_Ter591=)	ARSF	Duplication (no sequence alteration)	not provided	GBenign
Select item 2382946	NM_001201539.2(ARSF):c.1757C>T (p.Pro586Leu)	ARSF (P586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340111	GRCh37/hg19 Xp22.33(chrX:2952063-3156774)x3	ARSF	Copy number gain	not provided	GLikely benign

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Items: 50