"GeneDx"[submitter] AND "FRAS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 1201255	NM_025074.7(FRAS1):c.109G>A (p.Asp37Asn)	FRAS1 (D37N)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 3368588	NM_025074.7(FRAS1):c.244C>G (p.Gln82Glu)	FRAS1 (Q82E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197861	NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)	FRAS1 (R124*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 349658	NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu)	FRAS1 (P132L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 419757	NM_025074.7(FRAS1):c.469+5G>T	FRAS1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 349664	NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)	FRAS1 (P214L)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1304934	NM_025074.7(FRAS1):c.685G>A (p.Glu229Lys)	FRAS1 (E229K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198912	NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)	FRAS1 (L259R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 620296	NM_025074.7(FRAS1):c.880C>T (p.Gln294Ter)	FRAS1 (Q294*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 349672	NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys)	FRAS1 (E296K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1343039	NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter)	FRAS1 (Q312*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 392877	NM_025074.7(FRAS1):c.1060A>G (p.Thr354Ala)	FRAS1 (T354A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373335	NM_025074.7(FRAS1):c.1306G>A (p.Asp436Asn)	FRAS1 (D436N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 261803	NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile)	FRAS1 (L466I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1350003	NM_025074.7(FRAS1):c.1477G>A (p.Gly493Arg)	FRAS1 (G493R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1336824	NM_025074.7(FRAS1):c.1607A>G (p.His536Arg)	FRAS1 (H536R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 429570	NM_025074.7(FRAS1):c.1724G>A (p.Cys575Tyr)	FRAS1 (C575Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2501553	NM_025074.7(FRAS1):c.1908C>A (p.His636Gln)	FRAS1 (H636Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194790	NM_025074.7(FRAS1):c.1947T>C (p.His649=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +2 more	GBenign
Select item 429257	NM_025074.7(FRAS1):c.2027C>T (p.Pro676Leu)	FRAS1 (P676L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 261804	NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly)	FRAS1 (D687G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1303307	NM_025074.7(FRAS1):c.2137+5G>A	FRAS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 424515	NM_025074.7(FRAS1):c.2490C>G (p.Cys830Trp)	FRAS1 (C830W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992487	NM_025074.7(FRAS1):c.2510T>C (p.Leu837Pro)	FRAS1 (L837P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369409	NM_025074.7(FRAS1):c.2678C>G (p.Thr893Ser)	FRAS1 (T893S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435260	NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)	FRAS1 (Q907*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 817271	NM_025074.7(FRAS1):c.2791del (p.Val931fs)	FRAS1 (V931fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 596477	NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)	FRAS1 (T954M)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 445365	NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr)	FRAS1 (A986T)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 265541	NM_025074.7(FRAS1):c.3010+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1307020	NM_025074.7(FRAS1):c.3053G>A (p.Cys1018Tyr)	FRAS1 (C1018Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290048	NM_025074.7(FRAS1):c.3058C>T (p.Arg1020Cys)	FRAS1 (R1020C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1941612	NM_025074.7(FRAS1):c.3514G>A (p.Asp1172Asn)	FRAS1 (D1172N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 545924	NM_025074.7(FRAS1):c.3675del (p.Leu1226fs)	FRAS1 (L1226fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3340375	NM_025074.7(FRAS1):c.3877C>T (p.His1293Tyr)	FRAS1 (H1293Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303556	NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn)	FRAS1 (K1321N)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 349710	NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)	FRAS1 (G1394A)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1305341	NM_025074.7(FRAS1):c.4188C>A (p.His1396Gln)	FRAS1 (H1396Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429258	NM_025074.7(FRAS1):c.4273G>A (p.Gly1425Arg)	FRAS1 (G1425R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196928	NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)	FRAS1 (R1527W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 349714	NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu)	FRAS1 (P1545L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 261807	NM_025074.7(FRAS1):c.4635G>A (p.Pro1545=)	FRAS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 349715	NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)	FRAS1 (L1550F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3373235	NM_025074.7(FRAS1):c.4670C>T (p.Ser1557Leu)	FRAS1 (S1557L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988192	NM_025074.7(FRAS1):c.4843+2T>C	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 197043	NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)	FRAS1 (D1682E)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 3367795	NM_025074.7(FRAS1):c.5121A>C (p.Glu1707Asp)	FRAS1 (E1707D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452813	NM_025074.7(FRAS1):c.5128G>A (p.Gly1710Arg)	FRAS1 (G1710R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313409	NM_025074.7(FRAS1):c.5215G>A (p.Val1739Met)	FRAS1 (V1739M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451289	NM_025074.7(FRAS1):c.5423_5424del (p.Ser1808fs)	FRAS1 (S1808fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2497800	NM_025074.7(FRAS1):c.5531T>C (p.Val1844Ala)	FRAS1 (V1844A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175481	NM_025074.7(FRAS1):c.5672G>A (p.Arg1891His)	FRAS1 (R1891H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452812	NM_025074.7(FRAS1):c.5851A>T (p.Ile1951Phe)	FRAS1 (I1951F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1703912	NM_025074.7(FRAS1):c.5865C>A (p.Asn1955Lys)	FRAS1 (N1955K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 373336	NM_025074.7(FRAS1):c.5939C>T (p.Ser1980Phe)	FRAS1 (S1980F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 369978	NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)	FRAS1 (D2108V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698312	NM_025074.7(FRAS1):c.6401A>G (p.Asn2134Ser)	FRAS1 (N2134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197572	NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly)	FRAS1 (E2195G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2500551	NM_025074.7(FRAS1):c.6880G>C (p.Val2294Leu)	FRAS1 (V2294L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392876	NM_025074.7(FRAS1):c.6925G>C (p.Asp2309His)	FRAS1 (D2309H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815	NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)	FRAS1 (V2322fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 429758	NM_025074.7(FRAS1):c.7005del (p.Lys2336fs)	FRAS1 (K2336fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 489090	NM_025074.7(FRAS1):c.7030-3C>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 197915	NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)	FRAS1 (V2347F)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 261812	NM_025074.7(FRAS1):c.7110C>T (p.His2370=)	FRAS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261813	NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu)	FRAS1 (K2378E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 349751	NM_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser)	FRAS1 (N2408S)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 3096714	NM_025074.7(FRAS1):c.7429G>A (p.Ala2477Thr)	FRAS1 (A2477T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 349753	NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met)	FRAS1 (T2484M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3368587	NM_025074.7(FRAS1):c.7522+5G>T	FRAS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 349755	NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser)	FRAS1 (N2541S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1315040	NM_025074.7(FRAS1):c.7739A>G (p.Asn2580Ser)	FRAS1 (N2580S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978106	NM_025074.7(FRAS1):c.7769G>A (p.Arg2590His)	FRAS1 (R2590H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302905	NM_025074.7(FRAS1):c.7841A>T (p.Tyr2614Phe)	FRAS1 (Y2614F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1188275	NM_025074.7(FRAS1):c.7966_7967del (p.Leu2656fs)	FRAS1 (L2656fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2579977	NM_025074.7(FRAS1):c.7987G>A (p.Ala2663Thr)	FRAS1 (A2663T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373310	NM_025074.7(FRAS1):c.7999A>G (p.Ile2667Val)	FRAS1 (I2667V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497899	NM_025074.7(FRAS1):c.8137G>T (p.Val2713Phe)	FRAS1 (V2713F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110744	NM_025074.7(FRAS1):c.8342G>T (p.Arg2781Leu)	FRAS1 (R2781L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574239	NM_025074.7(FRAS1):c.8353del (p.Val2785fs)	FRAS1 (V2785fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1312690	NM_025074.7(FRAS1):c.8449G>A (p.Val2817Ile)	FRAS1, LOC126807088 (V2817I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306363	NM_025074.7(FRAS1):c.8588C>G (p.Pro2863Arg)	FRAS1, LOC126807088 (P2863R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429857	NM_025074.7(FRAS1):c.8642C>T (p.Pro2881Leu)	FRAS1 (P2881L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305342	NM_025074.7(FRAS1):c.8690A>T (p.Gln2897Leu)	FRAS1 (Q2897L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302381	NM_025074.7(FRAS1):c.8807T>A (p.Val2936Asp)	FRAS1 (V2936D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313408	NM_025074.7(FRAS1):c.8833G>A (p.Gly2945Arg)	FRAS1 (G2945R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 261817	NM_025074.7(FRAS1):c.9116-11T>C	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +2 more	GBenign
Select item 261818	NM_025074.7(FRAS1):c.9116-5C>G	FRAS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3364539	NM_025074.7(FRAS1):c.9204C>G (p.Ile3068Met)	FRAS1 (I3068M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198334	NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg)	FRAS1 (G3185R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 906577	NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala)	FRAS1 (V3276A)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 452280	NM_025074.7(FRAS1):c.10129G>A (p.Val3377Ile)	FRAS1 (V3377I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 703588	NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro)	FRAS1 (L3387P)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GBenign/Likely benign
Select item 720332	NM_025074.7(FRAS1):c.10171T>C (p.Ser3391Pro)	FRAS1 (S3391P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 706502	NM_025074.7(FRAS1):c.10234C>T (p.Arg3412Cys)	FRAS1 (R3412C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 429251	NM_025074.7(FRAS1):c.10237C>T (p.Pro3413Ser)	FRAS1 (P3413S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1302906	NM_025074.7(FRAS1):c.10261C>T (p.Arg3421Ter)	FRAS1 (R3421*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2571699	NM_025074.7(FRAS1):c.10558G>T (p.Val3520Leu)	FRAS1 (V3520L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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