ARSG[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 2317226	NM_004694.5(SLC16A6):c.1552G>A (p.Val518Met)	ARSG, SLC16A6 (V518M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163118	NM_004694.5(SLC16A6):c.1477C>T (p.Arg493Cys)	ARSG, SLC16A6 (R493C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236762	NM_004694.5(SLC16A6):c.1310C>T (p.Pro437Leu)	ARSG, SLC16A6 (P437L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163117	NM_004694.5(SLC16A6):c.1096G>A (p.Val366Ile)	ARSG, SLC16A6 (V366I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620247	NM_004694.5(SLC16A6):c.944T>G (p.Ile315Ser)	ARSG, SLC16A6 (I315S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248416	NM_004694.5(SLC16A6):c.931C>T (p.Pro311Ser)	ARSG, SLC16A6 (P311S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307740	NM_004694.5(SLC16A6):c.904C>A (p.Leu302Ile)	ARSG, SLC16A6 (L302I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318947	NM_004694.5(SLC16A6):c.889T>C (p.Tyr297His)	ARSG, SLC16A6 (Y297H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318950	NM_004694.5(SLC16A6):c.845C>T (p.Pro282Leu)	ARSG, SLC16A6 (P282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717112	NM_004694.5(SLC16A6):c.816C>G (p.Thr272=)	SLC16A6, ARSG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3318949	NM_004694.5(SLC16A6):c.815C>A (p.Thr272Asn)	ARSG, SLC16A6 (T272N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318948	NM_004694.5(SLC16A6):c.772G>C (p.Glu258Gln)	ARSG, SLC16A6 (E258Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264792	NM_004694.5(SLC16A6):c.734C>T (p.Thr245Ile)	ARSG, SLC16A6 (T245I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222962	NM_004694.5(SLC16A6):c.695G>A (p.Arg232Gln)	ARSG, SLC16A6 (R232Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261693	NM_004694.5(SLC16A6):c.676C>G (p.Leu226Val)	ARSG, SLC16A6 (L226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163126	NM_004694.5(SLC16A6):c.665C>T (p.Ala222Val)	ARSG, SLC16A6 (A222V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163125	NM_004694.5(SLC16A6):c.656G>A (p.Arg219Gln)	ARSG, SLC16A6 (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492710	NM_004694.5(SLC16A6):c.647A>G (p.Gln216Arg)	ARSG, SLC16A6 (Q216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163124	NM_004694.5(SLC16A6):c.581T>G (p.Val194Gly)	ARSG, SLC16A6 (V194G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346062	NM_004694.5(SLC16A6):c.577A>G (p.Ile193Val)	ARSG, SLC16A6 (I193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769923	NM_004694.5(SLC16A6):c.567A>G (p.Leu189=)	ARSG, SLC16A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2648150	NM_004694.5(SLC16A6):c.549C>T (p.Leu183=)	ARSG, SLC16A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2379079	NM_004694.5(SLC16A6):c.484G>A (p.Ala162Thr)	ARSG, SLC16A6 (A162T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473230	NM_004694.5(SLC16A6):c.461T>C (p.Val154Ala)	ARSG, SLC16A6 (V154A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163123	NM_004694.5(SLC16A6):c.383G>A (p.Gly128Glu)	ARSG, SLC16A6 (G128E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163122	NM_004694.5(SLC16A6):c.358G>A (p.Ala120Thr)	ARSG, SLC16A6 (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163121	NM_004694.5(SLC16A6):c.350T>C (p.Met117Thr)	ARSG, SLC16A6 (M117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163120	NM_004694.5(SLC16A6):c.334C>A (p.Gln112Lys)	ARSG, SLC16A6 (Q112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289316	NM_004694.5(SLC16A6):c.265G>A (p.Gly89Arg)	ARSG, SLC16A6 (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605276	NM_004694.5(SLC16A6):c.179A>G (p.Asn60Ser)	ARSG, SLC16A6 (N60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163119	NM_004694.5(SLC16A6):c.164G>C (p.Ser55Thr)	ARSG, SLC16A6 (S55T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269663	NM_004694.5(SLC16A6):c.85G>A (p.Val29Ile)	ARSG, SLC16A6 (V29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403220	NM_004694.5(SLC16A6):c.38A>G (p.Asn13Ser)	ARSG, SLC16A6 (N13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1475167	NM_001267727.2(ARSG):c.4G>T (p.Gly2Cys)	ARSG (G2C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963613	NM_001267727.2(ARSG):c.9G>C (p.Trp3Cys)	ARSG (W3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672967	NM_001267727.2(ARSG):c.15T>C (p.Phe5=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351426	NM_001267727.2(ARSG):c.21G>A (p.Lys7=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011503	NM_001267727.2(ARSG):c.23T>C (p.Val8Ala)	ARSG (V8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769924	NM_001267727.2(ARSG):c.32C>T (p.Ala11Val)	ARSG (A11V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2091048	NM_001267727.2(ARSG):c.37G>A (p.Val13Met)	ARSG (V13M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464808	NM_001267727.2(ARSG):c.37G>T (p.Val13Leu)	ARSG (V13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097668	NM_001267727.2(ARSG):c.46T>C (p.Ser16Pro)	ARSG (S16P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620919	NM_001267727.2(ARSG):c.48A>G (p.Ser16=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530700	NM_001267727.2(ARSG):c.48A>C (p.Ser16=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029228	NM_001267727.2(ARSG):c.59A>T (p.Tyr20Phe)	ARSG (Y20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732227	NM_001267727.2(ARSG):c.63T>A (p.Pro21=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708031	NM_001267727.2(ARSG):c.87G>A (p.Gly29=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 959288	NM_001267727.2(ARSG):c.91del (p.Thr31fs)	ARSG (T31fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2290789	NM_001267727.2(ARSG):c.98G>A (p.Gly33Glu)	ARSG (G33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 852327	NM_001267727.2(ARSG):c.100C>T (p.Gln34Ter)	ARSG (Q34*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1919441	NM_001267727.2(ARSG):c.129C>T (p.Ala43=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1002820	NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)	ARSG (D44N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585252	NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)	ARSG (D45Y)	Single nucleotide variant (missense variant)	Usher syndrome, type 4 +1 more	GPathogenic
Select item 1906618	NM_001267727.2(ARSG):c.135C>T (p.Asp45=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335141	NM_001267727.2(ARSG):c.137T>C (p.Met46Thr)	ARSG (M46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1378301	NM_001267727.2(ARSG):c.138G>A (p.Met46Ile)	ARSG (M46I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1041161	NM_001267727.2(ARSG):c.140G>A (p.Gly47Glu)	ARSG (G47E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497486	NM_001267727.2(ARSG):c.146G>A (p.Gly49Asp)	ARSG (G49D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956209	NM_001267727.2(ARSG):c.163T>C (p.Trp55Arg)	ARSG (W55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999686	NM_001267727.2(ARSG):c.176A>T (p.Lys59Met)	ARSG (K59M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656066	NM_001267727.2(ARSG):c.180C>T (p.Asp60=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668028	NM_001267727.2(ARSG):c.186C>A (p.Ala62=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995250	NM_001267727.2(ARSG):c.189C>T (p.Asn63=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 855006	NM_001267727.2(ARSG):c.195T>A (p.Asp65Glu)	ARSG (D65E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521634	NM_001267727.2(ARSG):c.206C>T (p.Ser69Leu)	ARSG (S69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1114259	NM_001267727.2(ARSG):c.207G>A (p.Ser69=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968166	NM_001267727.2(ARSG):c.217A>G (p.Arg73Gly)	ARSG (R73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476952	NM_001267727.2(ARSG):c.218+1G>A	ARSG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1422347	NM_001267727.2(ARSG):c.218+2T>C	ARSG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1646530	NM_001267727.2(ARSG):c.218+14T>C	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263652	NM_001267727.2(ARSG):c.218+64A>T	ARSG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275394	NM_001267727.2(ARSG):c.219-173A>G	ARSG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1607931	NM_001267727.2(ARSG):c.219-17C>T	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976284	NM_001267727.2(ARSG):c.231C>T (p.Phe77=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168633	NM_001267727.2(ARSG):c.233A>G (p.His78Arg)	ARSG (H78R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961169	NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)	ARSG (S85P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019707	NM_001267727.2(ARSG):c.263G>A (p.Arg88Gln)	ARSG (R88Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928928	NM_001267727.2(ARSG):c.267T>A (p.Ala89=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576531	NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)	ARSG (L92P)	Single nucleotide variant (missense variant)	Usher syndrome, type 4	GPathogenic
Select item 1939649	NM_001267727.2(ARSG):c.278C>T (p.Thr93Ile)	ARSG (T93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1124255	NM_001267727.2(ARSG):c.279C>T (p.Thr93=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971432	NM_001267727.2(ARSG):c.280G>A (p.Gly94Ser)	ARSG (G94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008438	NM_001267727.2(ARSG):c.281G>A (p.Gly94Asp)	ARSG (G94D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934156	NM_001267727.2(ARSG):c.283C>T (p.Arg95Trp)	ARSG (R95W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 961348	NM_001267727.2(ARSG):c.284G>A (p.Arg95Gln)	ARSG (R95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115962	NM_001267727.2(ARSG):c.286C>T (p.Leu96Phe)	ARSG (L96F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1023660	NM_001267727.2(ARSG):c.286C>G (p.Leu96Val)	ARSG (L96V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1386235	NM_001267727.2(ARSG):c.290G>A (p.Gly97Asp)	ARSG (G97D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102932	NM_001267727.2(ARSG):c.294T>G (p.Leu98=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438516	NM_001267727.2(ARSG):c.295C>T (p.Arg99Cys)	ARSG (R99C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942705	NM_001267727.2(ARSG):c.296G>A (p.Arg99His)	ARSG (R99H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381052	NM_001267727.2(ARSG):c.298A>G (p.Asn100Asp)	ARSG (N100D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652033	NM_001267727.2(ARSG):c.300T>C (p.Asn100=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432266	NM_001267727.2(ARSG):c.307A>C (p.Thr103Pro)	ARSG (T103P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498989	NM_001267727.2(ARSG):c.311G>A (p.Arg104His)	ARSG (R104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714982	NM_001267727.2(ARSG):c.331G>A (p.Val111Met)	ARSG (V111M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958411	NM_001267727.2(ARSG):c.334G>A (p.Gly112Arg)	ARSG (G112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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