ClinVar for MedGen (Select 1639061) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25012581.	NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter) GRCh37: Chr4:79343099 GRCh38: Chr4:78421945	FRAS1	Y1541*	Fraser syndrome 1	Likely pathogenic (Mar 30, 2023)	criteria provided, single submitter
Select item 25012572.	NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del GRCh37: Chr4:79362452-79367880	FRAS1		Fraser syndrome 1	Likely pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 25012563.	NM_025074.7(FRAS1):c.604-1G>C GRCh37: Chr4:79186178 GRCh38: Chr4:78265024	FRAS1		Fraser syndrome 1	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 25012554.	NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter) GRCh37: Chr4:78979176 GRCh38: Chr4:78058022	FRAS1	K5*	Fraser syndrome 1	Likely pathogenic (Mar 20, 2023)	criteria provided, single submitter
Select item 24459695.	NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter) GRCh37: Chr13:39446973-39446974 GRCh38: Chr13:38872836-38872837	FREM2	D2695*	Fraser syndrome 1	Likely pathogenic (Feb 24, 2023)	criteria provided, single submitter
Select item 24443696.	NM_025074.7(FRAS1):c.3152-2A>G GRCh37: Chr4:79296891 GRCh38: Chr4:78375737	FRAS1		Fraser syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24418367.	NM_025074.7(FRAS1):c.4540+752A>G GRCh37: Chr4:79340969 GRCh38: Chr4:78419815	FRAS1		Fraser syndrome 1	Uncertain significance (Nov 28, 2022)	criteria provided, single submitter
Select item 24417868.	NM_025074.7(FRAS1):c.8922del (p.Asp2975fs) GRCh37: Chr4:79410198 GRCh38: Chr4:78489044	FRAS1	D2975fs	Fraser syndrome 1	Pathogenic (Nov 28, 2022)	criteria provided, single submitter
Select item 24415719.	NM_025074.7(FRAS1):c.9008A>C (p.Glu3003Ala) GRCh37: Chr4:79418008 GRCh38: Chr4:78496854	FRAS1	E3003A	Fraser syndrome 1	Uncertain significance (Jun 17, 2021)	criteria provided, single submitter
Select item 244157010.	NM_025074.7(FRAS1):c.3957A>G (p.Gln1319=) GRCh37: Chr4:79308837 GRCh38: Chr4:78387683	FRAS1		Fraser syndrome 1	Uncertain significance (Jan 29, 2020)	criteria provided, single submitter
Select item 244156911.	NM_025074.7(FRAS1):c.5611A>G (p.Ile1871Val) GRCh37: Chr4:79362397 GRCh38: Chr4:78441243	FRAS1	I1871V	Fraser syndrome 1	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 244156812.	NM_025074.7(FRAS1):c.8555A>G (p.Tyr2852Cys) GRCh37: Chr4:79403069 GRCh38: Chr4:78481915	FRAS1, LOC126807088	Y2852C	Fraser syndrome 1	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 244156713.	NM_025074.7(FRAS1):c.4955G>A (p.Arg1652Lys) GRCh37: Chr4:79351557 GRCh38: Chr4:78430403	FRAS1	R1652K	Fraser syndrome 1	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 244156514.	NM_025074.7(FRAS1):c.4912C>T (p.Pro1638Ser) GRCh37: Chr4:79351514 GRCh38: Chr4:78430360	FRAS1	P1638S	Fraser syndrome 1	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 244156415.	NM_025074.7(FRAS1):c.2550C>T (p.Tyr850=) GRCh37: Chr4:79284794 GRCh38: Chr4:78363640	FRAS1		Fraser syndrome 1	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 244156316.	NM_025074.7(FRAS1):c.8467C>T (p.Arg2823Cys) GRCh37: Chr4:79402981 GRCh38: Chr4:78481827	LOC126807088, FRAS1	R2823C	Fraser syndrome 1	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 244156217.	NM_025074.7(FRAS1):c.9716A>G (p.Asn3239Ser) GRCh37: Chr4:79430096 GRCh38: Chr4:78508942	FRAS1	N3239S	Fraser syndrome 1	Uncertain significance (Dec 27, 2019)	criteria provided, single submitter
Select item 244156018.	NM_025074.7(FRAS1):c.6776G>C (p.Ser2259Thr) GRCh37: Chr4:79385187 GRCh38: Chr4:78464033	FRAS1	S2259T	Fraser syndrome 1	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 244155919.	NM_025074.7(FRAS1):c.3936C>T (p.Ser1312=) GRCh37: Chr4:79308816 GRCh38: Chr4:78387662	FRAS1		Fraser syndrome 1	Uncertain significance (Sep 3, 2019)	criteria provided, single submitter
Select item 244155820.	NM_025074.7(FRAS1):c.8731A>G (p.Ile2911Val) GRCh37: Chr4:79403668 GRCh38: Chr4:78482514	FRAS1	I2911V	Fraser syndrome 1, Inborn genetic diseases	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 244031821.	NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter) GRCh37: Chr4:79173618 GRCh38: Chr4:78252464	FRAS1	Q128*	Fraser syndrome 1	Likely pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 237569422.	NM_025074.7(FRAS1):c.9016T>C (p.Phe3006Leu) GRCh37: Chr4:79418016 GRCh38: Chr4:78496862	FRAS1	F3006L	Fraser syndrome 1, Inborn genetic diseases	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 234840523.	NM_025074.7(FRAS1):c.572C>T (p.Thr191Ile) GRCh37: Chr4:79176498 GRCh38: Chr4:78255344	FRAS1	T191I	Fraser syndrome 1, Inborn genetic diseases	Uncertain significance (Jul 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 231788624.	NM_025074.7(FRAS1):c.9845A>G (p.Lys3282Arg) GRCh37: Chr4:79432492 GRCh38: Chr4:78511338	FRAS1	K3282R	Fraser syndrome 1, Inborn genetic diseases	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208281225.	NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln) GRCh37: Chr4:79391154 GRCh38: Chr4:78470000	FRAS1	P2427Q	Fraser syndrome 1, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 25, 2022)	criteria provided, conflicting interpretations
Select item 202461226.	NM_025074.7(FRAS1):c.9575del (p.Pro3192fs) GRCh37: Chr4:79429952 GRCh38: Chr4:78508798	FRAS1	P3192fs	not provided, Fraser syndrome 1	Pathogenic/Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 187840027.	NM_001366722.1(GRIP1):c.10_13del (p.Val4fs) GRCh37: Chr12:67072672-67072675 GRCh38: Chr12:66678892-66678895	GRIP1	V4fs	Fraser syndrome 1	Likely pathogenic (Dec 28, 2022)	criteria provided, single submitter
Select item 180570128.	NM_207361.6(FREM2):c.475G>A (p.Ala159Thr) GRCh37: Chr13:39261956 GRCh38: Chr13:38687819	FREM2	A159T	Fraser syndrome 1	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 180483329.	NM_025074.7(FRAS1):c.7258-2A>G GRCh37: Chr4:79391130 GRCh38: Chr4:78469976	FRAS1		Fraser syndrome 1	Likely pathogenic (Nov 15, 2022)	criteria provided, single submitter
Select item 172326030.	NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter) GRCh37: Chr13:39265242 GRCh38: Chr13:38691105	FREM2	L1254*	Fraser syndrome 1	Likely pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 171186931.	NM_025074.7(FRAS1):c.4556G>A (p.Arg1519Gln) GRCh37: Chr4:79343032 GRCh38: Chr4:78421878	FRAS1	R1519Q	Fraser syndrome 1	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 171001932.	NM_025074.7(FRAS1):c.1682G>A (p.Cys561Tyr) GRCh37: Chr4:79236751 GRCh38: Chr4:78315597	FRAS1	C561Y	Fraser syndrome 1	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 170572733.	NM_025074.7(FRAS1):c.2376del (p.Ser793fs) GRCh37: Chr4:79258924 GRCh38: Chr4:78337770	FRAS1	S793fs	Fraser syndrome 1	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 168341534.	NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs) GRCh37: Chr13:39425127-39425128 GRCh38: Chr13:38850990-38850991	FREM2	Y2209fs	Fraser syndrome 1	Likely pathogenic (Apr 14, 2022)	criteria provided, single submitter
Select item 167929735.	NM_025074.7(FRAS1):c.3569G>T (p.Gly1190Val) GRCh37: Chr4:79305218 GRCh38: Chr4:78384064	FRAS1	G1190V	Fraser syndrome 1	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 166973836.	NM_025074.7(FRAS1):c.9330C>A (p.Ile3110=) GRCh37: Chr4:79428588 GRCh38: Chr4:78507434	FRAS1		not provided, Fraser syndrome 1	Likely benign (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 166179337.	NM_025074.7(FRAS1):c.783C>T (p.Cys261=) GRCh37: Chr4:79188083 GRCh38: Chr4:78266929	FRAS1		Fraser syndrome 1, not provided	Likely benign (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166135038.	NM_025074.7(FRAS1):c.2826C>T (p.Cys942=) GRCh37: Chr4:79291095 GRCh38: Chr4:78369941	FRAS1		Fraser syndrome 1, not provided	Likely benign (Apr 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163692639.	NM_025074.7(FRAS1):c.10390-18A>T GRCh37: Chr4:79440467 GRCh38: Chr4:78519313	FRAS1		Fraser syndrome 1, not provided	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163597640.	NM_025074.7(FRAS1):c.10540+15G>A GRCh37: Chr4:79440650 GRCh38: Chr4:78519496	FRAS1		not provided, Fraser syndrome 1	Likely benign (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162915941.	NM_025074.7(FRAS1):c.10649-18T>C GRCh37: Chr4:79443785 GRCh38: Chr4:78522631	FRAS1		not provided, Fraser syndrome 1	Benign/Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161712242.	NM_025074.7(FRAS1):c.3010+14_3010+29del GRCh37: Chr4:79294026-79294041 GRCh38: Chr4:78372872-78372887	FRAS1		not provided, Fraser syndrome 1	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160090643.	NM_025074.7(FRAS1):c.4969+19A>T GRCh37: Chr4:79351590 GRCh38: Chr4:78430436	FRAS1		Fraser syndrome 1, not provided	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159992744.	NM_025074.7(FRAS1):c.1108-12T>G GRCh37: Chr4:79203962 GRCh38: Chr4:78282808	FRAS1		Fraser syndrome 1, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157282745.	NM_025074.7(FRAS1):c.790-20C>T GRCh37: Chr4:79188375 GRCh38: Chr4:78267221	FRAS1		Fraser syndrome 1, not provided	Benign/Likely benign (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155173146.	NM_025074.7(FRAS1):c.1534+19A>G GRCh37: Chr4:79207712 GRCh38: Chr4:78286558	FRAS1		not provided, Fraser syndrome 1	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154131047.	NM_025074.7(FRAS1):c.4362C>T (p.Ile1454=) GRCh37: Chr4:79334176 GRCh38: Chr4:78413022	FRAS1		not provided, Fraser syndrome 1	Likely benign (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153616248.	NM_025074.7(FRAS1):c.687+20A>G GRCh37: Chr4:79186282 GRCh38: Chr4:78265128	FRAS1		Fraser syndrome 1, not provided	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152622049.	NM_025074.7(FRAS1):c.7030-6G>A GRCh37: Chr4:79387356 GRCh38: Chr4:78466202	FRAS1		Fraser syndrome 1	Uncertain significance (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152089050.	NM_025074.7(FRAS1):c.9705C>A (p.Pro3235=) GRCh37: Chr4:79430085 GRCh38: Chr4:78508931	FRAS1		Fraser syndrome 1, not provided	Likely benign (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151997951.	NM_025074.7(FRAS1):c.10960C>T (p.Arg3654Cys) GRCh37: Chr4:79455637 GRCh38: Chr4:78534483	FRAS1, LOC126807089	R3654C	Inborn genetic diseases, Fraser syndrome 1, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151221652.	NM_025074.7(FRAS1):c.805C>T (p.Arg269Trp) GRCh37: Chr4:79188410 GRCh38: Chr4:78267256	FRAS1	R269W	not provided, Fraser syndrome 1	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150795053.	NM_025074.7(FRAS1):c.1472G>A (p.Arg491Gln) GRCh37: Chr4:79207631 GRCh38: Chr4:78286477	FRAS1	R491Q	not provided, Fraser syndrome 1	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148689954.	NM_025074.7(FRAS1):c.2515G>A (p.Gly839Arg) GRCh37: Chr4:79284759 GRCh38: Chr4:78363605	FRAS1	G839R	Fraser syndrome 1, not provided	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147525955.	NM_025074.7(FRAS1):c.3190C>T (p.Arg1064Cys) GRCh37: Chr4:79296931 GRCh38: Chr4:78375777	FRAS1	R1064C	Fraser syndrome 1, not provided	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146911356.	NM_025074.7(FRAS1):c.5006C>T (p.Ala1669Val) GRCh37: Chr4:79353547 GRCh38: Chr4:78432393	FRAS1	A1669V	Fraser syndrome 1, not provided	Uncertain significance (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146907157.	NM_025074.7(FRAS1):c.11775T>A (p.Phe3925Leu) GRCh37: Chr4:79462014 GRCh38: Chr4:78540860	FRAS1	F3925L	Fraser syndrome 1, not provided	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146887858.	NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) GRCh37: Chr4:79293964 GRCh38: Chr4:78372810	FRAS1	V988M	Fraser syndrome 1, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146837059.	NM_025074.7(FRAS1):c.10587A>C (p.Arg3529Ser) GRCh37: Chr4:79442723 GRCh38: Chr4:78521569	FRAS1	R3529S	Fraser syndrome 1, not provided	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146405360.	NM_025074.7(FRAS1):c.2891C>T (p.Ala964Val) GRCh37: Chr4:79293893 GRCh38: Chr4:78372739	FRAS1	A964V	Fraser syndrome 1, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144723661.	NM_025074.7(FRAS1):c.10418C>T (p.Thr3473Ile) GRCh37: Chr4:79440513 GRCh38: Chr4:78519359	FRAS1	T3473I	Fraser syndrome 1, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143562262.	NM_025074.7(FRAS1):c.6496C>A (p.Pro2166Thr) GRCh37: Chr4:79372958 GRCh38: Chr4:78451804	FRAS1	P2166T	not provided, Fraser syndrome 1	Uncertain significance (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143299263.	NM_025074.7(FRAS1):c.847G>A (p.Gly283Arg) GRCh37: Chr4:79188452 GRCh38: Chr4:78267298	FRAS1	G283R	not provided, Fraser syndrome 1, Inborn genetic diseases	Uncertain significance (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142490864.	NM_025074.7(FRAS1):c.9724C>T (p.Arg3242Trp) GRCh37: Chr4:79430104 GRCh38: Chr4:78508950	FRAS1	R3242W	not provided, Fraser syndrome 1	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142167765.	NM_025074.7(FRAS1):c.7696G>A (p.Glu2566Lys) GRCh37: Chr4:79396605 GRCh38: Chr4:78475451	FRAS1	E2566K	not provided, Inborn genetic diseases, Fraser syndrome 1	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 141519466.	NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=) GRCh37: Chr4:79437167 GRCh38: Chr4:78516013	FRAS1		Fraser syndrome 1, not provided	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140451567.	NM_025074.7(FRAS1):c.1177G>A (p.Glu393Lys) GRCh37: Chr4:79204043 GRCh38: Chr4:78282889	FRAS1	E393K	Fraser syndrome 1, not provided	Uncertain significance (Apr 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140125868.	NM_025074.7(FRAS1):c.6002C>T (p.Pro2001Leu) GRCh37: Chr4:79368026 GRCh38: Chr4:78446872	FRAS1	P2001L	Fraser syndrome 1, not provided	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140045269.	NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn) GRCh37: Chr4:79387495 GRCh38: Chr4:78466341	FRAS1	S2388N	not specified, Fraser syndrome 1, Inborn genetic diseases, not provided	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138613470.	NM_025074.7(FRAS1):c.7067G>A (p.Arg2356His) GRCh37: Chr4:79387399 GRCh38: Chr4:78466245	FRAS1	R2356H	Fraser syndrome 1, Inborn genetic diseases, not provided	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 136099371.	NM_025074.7(FRAS1):c.5027G>A (p.Gly1676Asp) GRCh37: Chr4:79353568 GRCh38: Chr4:78432414	FRAS1	G1676D	Fraser syndrome 1, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135293272.	NM_025074.7(FRAS1):c.4982C>A (p.Thr1661Asn) GRCh37: Chr4:79353523 GRCh38: Chr4:78432369	FRAS1	T1661N	not provided, Fraser syndrome 1, Inborn genetic diseases	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135000373.	NM_025074.7(FRAS1):c.1477G>A (p.Gly493Arg) GRCh37: Chr4:79207636 GRCh38: Chr4:78286482	FRAS1	G493R	not provided, Fraser syndrome 1	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134371074.	NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser) GRCh37: Chr4:79447780 GRCh38: Chr4:78526626	FRAS1	P3632S	Fraser syndrome 1, not specified	Uncertain significance (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134303975.	NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter) GRCh37: Chr4:79188539 GRCh38: Chr4:78267385	FRAS1	Q312*	not provided, Fraser syndrome 1	Pathogenic/Likely pathogenic (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134153076.	NM_025074.7(FRAS1):c.5166del (p.Val1723fs) GRCh37: Chr4:79353707 GRCh38: Chr4:78432553	FRAS1	V1723fs	Fraser syndrome 1	Pathogenic	criteria provided, single submitter
Select item 133973677.	NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro) GRCh37: Chr4:79447792 GRCh38: Chr4:78526638	FRAS1	T3636P	Fraser syndrome 1, not specified	Uncertain significance (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133780178.	NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr) GRCh37: Chr4:79238584 GRCh38: Chr4:78317430	FRAS1	P628T	Inborn genetic diseases, Fraser syndrome 1, not specified	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133287379.	NM_025074.7(FRAS1):c.3293-2A>T GRCh37: Chr4:79300878 GRCh38: Chr4:78379724	FRAS1		Fraser syndrome 1	Pathogenic	criteria provided, single submitter
Select item 132843080.	NM_025074.7(FRAS1):c.5857-5A>G GRCh37: Chr4:79367876 GRCh38: Chr4:78446722	FRAS1		Fraser syndrome 1	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 132842981.	NM_025074.7(FRAS1):c.6342del (p.Met2115fs) GRCh37: Chr4:79371371 GRCh38: Chr4:78450217	FRAS1	M2115fs	Fraser syndrome 1	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 132842882.	NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter) GRCh37: Chr4:79305280 GRCh38: Chr4:78384126	FRAS1	Q1211*	Fraser syndrome 1	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 132442583.	NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter) GRCh37: Chr4:79291080 GRCh38: Chr4:78369926	FRAS1	C937*	Fraser syndrome 1	Likely pathogenic (Jul 7, 2021)	criteria provided, single submitter
Select item 132294084.	NM_207361.6(FREM2):c.2833del (p.His945fs) GRCh37: Chr13:39264313 GRCh38: Chr13:38690176	FREM2	H945fs	not provided, Fraser syndrome 1	Pathogenic/Likely pathogenic (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132293685.	NM_025074.7(FRAS1):c.2692del (p.His898fs) GRCh37: Chr4:79285178 GRCh38: Chr4:78364024	FRAS1	H898fs	Fraser syndrome 1	Pathogenic (Jun 19, 2019)	criteria provided, single submitter
Select item 131340886.	NM_025074.7(FRAS1):c.8833G>A (p.Gly2945Arg) GRCh37: Chr4:79410109 GRCh38: Chr4:78488955	FRAS1	G2945R	not provided, Fraser syndrome 1	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130355687.	NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn) GRCh37: Chr4:79308843 GRCh38: Chr4:78387689	FRAS1	K1321N	not provided, not specified, Fraser syndrome 1	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129926988.	NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn) GRCh37: Chr4:79437009 GRCh38: Chr4:78515855	FRAS1	D3411N	not provided, Fraser syndrome 1	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128528189.	NM_025074.7(FRAS1):c.10649-29T>A GRCh37: Chr4:79443774 GRCh38: Chr4:78522620	FRAS1		Fraser syndrome 1	Benign (Aug 10, 2021)	criteria provided, single submitter
Select item 128528090.	NM_025074.7(FRAS1):c.470-35T>C GRCh37: Chr4:79176361 GRCh38: Chr4:78255207	FRAS1		Fraser syndrome 1	Benign (Aug 10, 2021)	criteria provided, single submitter
Select item 120125591.	NM_025074.7(FRAS1):c.109G>A (p.Asp37Asn) GRCh37: Chr4:79158664 GRCh38: Chr4:78237510	FRAS1	D37N	not provided, Fraser syndrome 1	Uncertain significance (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117917692.	NM_207361.6(FREM2):c.8176+2dup GRCh37: Chr13:39447072-39447073 GRCh38: Chr13:38872935-38872936	FREM2		Fraser syndrome 1, Fraser syndrome 2, Isolated cryptophthalmia, not provided	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 117913193.	NM_025074.7(FRAS1):c.364del (p.Glu122fs) GRCh37: Chr4:79173597 GRCh38: Chr4:78252443	FRAS1	E122fs	Fraser syndrome 1	Pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 117912194.	NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer) GRCh37: Chr4:79420882-79420883 GRCh38: Chr4:78499728-78499729	FRAS1		Fraser syndrome 1	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 117903295.	NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs) GRCh37: Chr4:79387582-79387583 GRCh38: Chr4:78466428-78466429	FRAS1	E2419fs	Fraser syndrome 1	Pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 117647996.	NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=) GRCh37: Chr4:79385245 GRCh38: Chr4:78464091	FRAS1		not provided, Fraser syndrome 1	Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107428097.	NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter) GRCh37: Chr4:79385216 GRCh38: Chr4:78464062	FRAS1	R2269*	Fraser syndrome 1, not provided	Pathogenic (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106563898.	NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter) GRCh37: Chr4:79369398 GRCh38: Chr4:78448244	FRAS1	K2068*	Fraser syndrome 1	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 105065699.	NM_025074.7(FRAS1):c.2423A>G (p.Asp808Gly) GRCh37: Chr4:79284667 GRCh38: Chr4:78363513	FRAS1	D808G	Fraser syndrome 1	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 1050651100.	NM_025074.7(FRAS1):c.2137G>A (p.Ala713Thr) GRCh37: Chr4:79240140 GRCh38: Chr4:78318986	FRAS1	A713T	not provided, Fraser syndrome 1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts

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