ClinVar for MedGen (Select 41393) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25797471.	NM_000492.4(CFTR):c.53+1005T>G GRCh37: Chr7:117121206 GRCh38: Chr7:117481152	CFTR		Cystic fibrosis	Likely pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 25797462.	NM_000492.4(CFTR):c.2909-2A>T GRCh37: Chr7:117246726 GRCh38: Chr7:117606672	CFTR		Cystic fibrosis	Likely pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 25797453.	NM_000492.4(CFTR):c.2855T>G (p.Met952Arg) GRCh37: Chr7:117243783 GRCh38: Chr7:117603729	CFTR	M952R	Cystic fibrosis	Uncertain significance (Jul 26, 2023)	criteria provided, single submitter
Select item 25797444.	NM_000492.4(CFTR):c.558del (p.Asn186fs) GRCh37: Chr7:117174398 GRCh38: Chr7:117534344	CFTR	N186fs	Cystic fibrosis	Pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 25797425.	NM_000492.4(CFTR):c.2382_2383del (p.Ser795fs) GRCh37: Chr7:117232601-117232602 GRCh38: Chr7:117592547-117592548	CFTR	S795fs	Cystic fibrosis	Pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 25797416.	NM_000492.4(CFTR):c.4345_*487delinsTTG (p.Phe1450fs) GRCh37: Chr7:117307064-117307649 GRCh38: Chr7:117667010-117667595	CFTR, LOC111674477	F1450fs	Cystic fibrosis	Uncertain significance (Jul 26, 2023)	criteria provided, single submitter
Select item 25797407.	NM_000492.4(CFTR):c.869+5G>C GRCh37: Chr7:117176732 GRCh38: Chr7:117536678	CFTR		Cystic fibrosis	Uncertain significance (Jul 26, 2023)	criteria provided, single submitter
Select item 25797398.	NM_000492.4(CFTR):c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp) GRCh37: Chr7:117243787-117243821 GRCh38: Chr7:117603733-117603767	CFTR		Cystic fibrosis	Uncertain significance (Jul 26, 2023)	criteria provided, single submitter
Select item 25797389.	NM_000492.4(CFTR):c.1368del (p.Ala457fs) GRCh37: Chr7:117188852 GRCh38: Chr7:117548798	CFTR, CFTR-AS1	A457fs	Cystic fibrosis	Likely pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 257973710.	NM_000492.4(CFTR):c.722G>A (p.Gly241Glu) GRCh37: Chr7:117175444 GRCh38: Chr7:117535390	CFTR		Cystic fibrosis	Uncertain significance (Jul 26, 2023)	criteria provided, single submitter
Select item 257730611.	NC_000007.13:g.(117199710_117227792)_(117254768_117267575)del GRCh37: Chr7:117199710-117267575	CFTR		Cystic fibrosis	Pathogenic (Jul 20, 2023)	criteria provided, single submitter
Select item 257730412.	NM_000492.4(CFTR):c.1189del (p.Asn396_Val397insTer) GRCh37: Chr7:117182142 GRCh38: Chr7:117542088	CFTR		Cystic fibrosis	Pathogenic (Jul 31, 2023)	criteria provided, single submitter
Select item 257730113.	NC_000007.13:g.(117149197_117170952)_(117180401_117182069)del GRCh37: Chr7:117149197-117182069	CFTR		Cystic fibrosis	Pathogenic (Jul 20, 2023)	criteria provided, single submitter
Select item 257729714.	NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala) GRCh37: Chr7:117250690 GRCh38: Chr7:117610636	CFTR, LOC111674472	T1036A	Cystic fibrosis	Likely pathogenic (Jul 28, 2023)	criteria provided, single submitter
Select item 257523615.	NM_000492.4(CFTR):c.54-9347T>A GRCh37: Chr7:117134960 GRCh38: Chr7:117494906	CFTR		Cystic fibrosis	Uncertain significance (May 18, 2023)	criteria provided, single submitter
Select item 257522916.	NM_000492.4(CFTR):c.1209+568A>G GRCh37: Chr7:117182730 GRCh38: Chr7:117542676	CFTR, CFTR-AS1		Cystic fibrosis	Uncertain significance (Jun 6, 2023)	criteria provided, single submitter
Select item 257522117.	NM_000492.4(CFTR):c.3718-5034G>A GRCh37: Chr7:117277458 GRCh38: Chr7:117637404	CFTR		Cystic fibrosis	Likely benign (Jul 14, 2023)	criteria provided, single submitter
Select item 257522018.	NM_000492.4(CFTR):c.3873+4987A>T GRCh37: Chr7:117287634 GRCh38: Chr7:117647580	CFTR		Cystic fibrosis	Likely benign (Jul 14, 2023)	criteria provided, single submitter
Select item 257521919.	NM_000492.4(CFTR):c.1842C>A (p.Asp614Glu) GRCh37: Chr7:117232063 GRCh38: Chr7:117592009	CFTR	D614E	Cystic fibrosis	Uncertain significance (Jul 14, 2023)	criteria provided, single submitter
Select item 257342720.	NM_000492.4(CFTR):c.744-9_744-2delinsTACG GRCh37: Chr7:117176593-117176600 GRCh38: Chr7:117536539-117536546	CFTR		Cystic fibrosis	Likely pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 257342621.	NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter) GRCh37: Chr7:117230436 GRCh38: Chr7:117590382	CFTR	L570*	Cystic fibrosis	Pathogenic (Jun 7, 2023)	criteria provided, single submitter
Select item 257342522.	NC_000007.13:g.(117292986_117304741)_(117305619_117306961)del GRCh37: Chr7:117292986-117306961	CFTR		Cystic fibrosis	Pathogenic (Jun 23, 2023)	criteria provided, single submitter
Select item 257342423.	NM_000492.4(CFTR):c.2818dup (p.Thr940fs) GRCh37: Chr7:117243745-117243746 GRCh38: Chr7:117603691-117603692	CFTR	T940fs	Cystic fibrosis	Pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 257342324.	NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer) GRCh37: Chr7:117232380 GRCh38: Chr7:117592326	CFTR		Cystic fibrosis	Pathogenic (Jun 14, 2023)	criteria provided, single submitter
Select item 256790325.	NM_000492.4(CFTR):c.3070G>A (p.Val1024Met) GRCh37: Chr7:117250654 GRCh38: Chr7:117610600	CFTR, LOC111674472	V1024M	Cystic fibrosis	Uncertain significance (Jun 9, 2023)	criteria provided, single submitter
Select item 256790226.	NM_000492.4(CFTR):c.2584G>A (p.Val862Met) GRCh37: Chr7:117235077 GRCh38: Chr7:117595023	CFTR	V862M	Cystic fibrosis	Uncertain significance (Jun 9, 2023)	criteria provided, single submitter
Select item 256790127.	NM_000492.4(CFTR):c.1662A>G (p.Ala554=) GRCh37: Chr7:117227870 GRCh38: Chr7:117587816	CFTR, LOC111674475		Cystic fibrosis	Likely benign (Jun 8, 2023)	criteria provided, single submitter
Select item 256790028.	NM_000492.4(CFTR):c.1152A>G (p.Glu384=) GRCh37: Chr7:117182105 GRCh38: Chr7:117542051	CFTR		Cystic fibrosis	Likely benign (Jun 7, 2023)	criteria provided, single submitter
Select item 256789929.	NM_000492.4(CFTR):c.3837G>T (p.Leu1279Phe) GRCh37: Chr7:117282611 GRCh38: Chr7:117642557	CFTR	L1279F	Cystic fibrosis	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 256789830.	NM_000492.4(CFTR):c.2094G>A (p.Lys698=) GRCh37: Chr7:117232315 GRCh38: Chr7:117592261	CFTR		Cystic fibrosis	Likely benign (Jun 1, 2023)	criteria provided, single submitter
Select item 256789731.	NM_000492.4(CFTR):c.3388G>A (p.Gly1130Ser) GRCh37: Chr7:117254687 GRCh38: Chr7:117614633	CFTR	G1130S	Cystic fibrosis	Uncertain significance (May 29, 2023)	criteria provided, single submitter
Select item 256789532.	NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln) GRCh37: Chr7:117267702 GRCh38: Chr7:117627648	CFTR	K1199Q	Cystic fibrosis	Uncertain significance (May 25, 2023)	criteria provided, single submitter
Select item 256789433.	NM_000492.4(CFTR):c.2454G>A (p.Leu818=) GRCh37: Chr7:117232675 GRCh38: Chr7:117592621	CFTR		Cystic fibrosis	Likely benign (May 21, 2023)	criteria provided, single submitter
Select item 256789334.	NM_000492.4(CFTR):c.1371T>C (p.Ala457=) GRCh37: Chr7:117188856 GRCh38: Chr7:117548802	CFTR, CFTR-AS1		Cystic fibrosis	Likely benign (May 21, 2023)	criteria provided, single submitter
Select item 256789235.	NM_000492.4(CFTR):c.521A>G (p.Lys174Arg) GRCh37: Chr7:117174361 GRCh38: Chr7:117534307	CFTR	K174R	Cystic fibrosis	Uncertain significance (May 21, 2023)	criteria provided, single submitter
Select item 256789136.	NM_000492.4(CFTR):c.386T>G (p.Leu129Arg) GRCh37: Chr7:117171065 GRCh38: Chr7:117531011	CFTR	L129R	Cystic fibrosis	Uncertain significance (May 21, 2023)	criteria provided, single submitter
Select item 256789037.	NM_000492.4(CFTR):c.3076T>G (p.Phe1026Val) GRCh37: Chr7:117250660 GRCh38: Chr7:117610606	CFTR, LOC111674472	F1026V	Cystic fibrosis	Uncertain significance (May 21, 2023)	criteria provided, single submitter
Select item 256788938.	NM_000492.4(CFTR):c.3481A>G (p.Ser1161Gly) GRCh37: Chr7:117267588 GRCh38: Chr7:117627534	CFTR	S1161G	Cystic fibrosis	Uncertain significance (May 20, 2023)	criteria provided, single submitter
Select item 256788839.	NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys) GRCh37: Chr7:117182146 GRCh38: Chr7:117542092	CFTR	T398K	Cystic fibrosis	Uncertain significance (May 14, 2023)	criteria provided, single submitter
Select item 256788740.	NM_000492.4(CFTR):c.2589A>G (p.Leu863=) GRCh37: Chr7:117235082 GRCh38: Chr7:117595028	CFTR		Cystic fibrosis	Likely benign (May 12, 2023)	criteria provided, single submitter
Select item 256788541.	NM_000492.4(CFTR):c.1915G>C (p.Asp639His) GRCh37: Chr7:117232136 GRCh38: Chr7:117592082	CFTR	D639H	Cystic fibrosis	Uncertain significance (May 11, 2023)	criteria provided, single submitter
Select item 256788442.	NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly) GRCh37: Chr7:117250649 GRCh38: Chr7:117610595	CFTR, LOC111674472	V1022G	Cystic fibrosis	Uncertain significance (May 7, 2023)	criteria provided, single submitter
Select item 256788343.	NM_000492.4(CFTR):c.3063A>G (p.Pro1021=) GRCh37: Chr7:117250647 GRCh38: Chr7:117610593	CFTR, LOC111674472		Cystic fibrosis	Likely benign (May 5, 2023)	criteria provided, single submitter
Select item 256788244.	NM_000492.4(CFTR):c.3648A>T (p.Thr1216=) GRCh37: Chr7:117267755 GRCh38: Chr7:117627701	CFTR		Cystic fibrosis	Likely benign (May 5, 2023)	criteria provided, single submitter
Select item 256788145.	NM_000492.4(CFTR):c.342G>C (p.Lys114Asn) GRCh37: Chr7:117171021 GRCh38: Chr7:117530967	CFTR	K114N	Cystic fibrosis	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 256788046.	NM_000492.4(CFTR):c.3849G>A (p.Arg1283=) GRCh37: Chr7:117282623 GRCh38: Chr7:117642569	CFTR		Cystic fibrosis	Likely benign (Apr 28, 2023)	criteria provided, single submitter
Select item 256787947.	NM_000492.4(CFTR):c.716G>A (p.Gly239Glu) GRCh37: Chr7:117175438 GRCh38: Chr7:117535384	CFTR	G239E	Cystic fibrosis	Uncertain significance (Apr 25, 2023)	criteria provided, single submitter
Select item 256787748.	NM_000492.4(CFTR):c.683G>A (p.Gly228Asp) GRCh37: Chr7:117175405 GRCh38: Chr7:117535351	CFTR	G228D	Cystic fibrosis	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 256787649.	NM_000492.4(CFTR):c.4384C>T (p.Pro1462Ser) GRCh37: Chr7:117307103 GRCh38: Chr7:117667049	CFTR, LOC111674477	P1462S	Cystic fibrosis	Likely benign (Apr 22, 2023)	criteria provided, single submitter
Select item 256787550.	NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro) GRCh37: Chr7:117282616 GRCh38: Chr7:117642562	CFTR	Q1281P	Cystic fibrosis	Uncertain significance (Apr 13, 2023)	criteria provided, single submitter
Select item 256787451.	NM_000492.4(CFTR):c.645C>T (p.Ile215=) GRCh37: Chr7:117175367 GRCh38: Chr7:117535313	CFTR		Cystic fibrosis	Likely benign (Apr 13, 2023)	criteria provided, single submitter
Select item 256787352.	NM_000492.4(CFTR):c.418C>G (p.Pro140Ala) GRCh37: Chr7:117171097 GRCh38: Chr7:117531043	CFTR	P140A	Cystic fibrosis	Uncertain significance (Apr 8, 2023)	criteria provided, single submitter
Select item 256787253.	NM_000492.4(CFTR):c.2587C>T (p.Leu863=) GRCh37: Chr7:117235080 GRCh38: Chr7:117595026	CFTR		Cystic fibrosis	Uncertain significance (Apr 20, 2023)	criteria provided, single submitter
Select item 256787054.	NM_000492.4(CFTR):c.4205A>G (p.His1402Arg) GRCh37: Chr7:117305581 GRCh38: Chr7:117665527	CFTR	H1402R	Cystic fibrosis	Uncertain significance (Mar 30, 2023)	criteria provided, single submitter
Select item 256786955.	NM_000492.4(CFTR):c.122C>G (p.Pro41Arg) GRCh37: Chr7:117144375 GRCh38: Chr7:117504321	CFTR	P41R	Cystic fibrosis	Uncertain significance (Mar 29, 2023)	criteria provided, single submitter
Select item 256786856.	NM_000492.4(CFTR):c.253G>C (p.Gly85Arg) GRCh37: Chr7:117149176 GRCh38: Chr7:117509122	CFTR	G85R	Cystic fibrosis	Uncertain significance (Apr 17, 2023)	criteria provided, single submitter
Select item 256786757.	NM_000492.4(CFTR):c.479T>C (p.Ile160Thr) GRCh37: Chr7:117171158 GRCh38: Chr7:117531104	CFTR	I160T	Cystic fibrosis	Uncertain significance (Mar 27, 2023)	criteria provided, single submitter
Select item 256786658.	NM_000492.4(CFTR):c.2556T>C (p.Tyr852=) GRCh37: Chr7:117235049 GRCh38: Chr7:117594995	CFTR		Cystic fibrosis	Likely benign (Mar 27, 2023)	criteria provided, single submitter
Select item 256786559.	NM_000492.4(CFTR):c.707T>A (p.Phe236Tyr) GRCh37: Chr7:117175429 GRCh38: Chr7:117535375	CFTR	F236Y	Cystic fibrosis	Uncertain significance (Mar 26, 2023)	criteria provided, single submitter
Select item 256786460.	NM_000492.4(CFTR):c.2549T>G (p.Leu850Arg) GRCh37: Chr7:117235042 GRCh38: Chr7:117594988	CFTR	L850R	Cystic fibrosis	Uncertain significance (Mar 24, 2023)	criteria provided, single submitter
Select item 256786361.	NM_000492.4(CFTR):c.1332T>C (p.Ile444=) GRCh37: Chr7:117188817 GRCh38: Chr7:117548763	CFTR, CFTR-AS1		Cystic fibrosis	Likely benign (Mar 19, 2023)	criteria provided, single submitter
Select item 256786262.	NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg) GRCh37: Chr7:117251803 GRCh38: Chr7:117611749	CFTR, LOC111674472	I1103R	Cystic fibrosis	Uncertain significance (Mar 18, 2023)	criteria provided, single submitter
Select item 256786063.	NM_000492.4(CFTR):c.618G>A (p.Leu206=) GRCh37: Chr7:117175340 GRCh38: Chr7:117535286	CFTR		Cystic fibrosis	Likely benign (Mar 17, 2023)	criteria provided, single submitter
Select item 256785964.	NM_000492.4(CFTR):c.2532T>G (p.Thr844=) GRCh37: Chr7:117235025 GRCh38: Chr7:117594971	CFTR		Cystic fibrosis	Likely benign (Mar 17, 2023)	criteria provided, single submitter
Select item 256785865.	NM_000492.4(CFTR):c.4399C>T (p.Leu1467=) GRCh37: Chr7:117307118 GRCh38: Chr7:117667064	CFTR, LOC111674477		Cystic fibrosis	Likely benign (Mar 17, 2023)	criteria provided, single submitter
Select item 256785766.	NM_000492.4(CFTR):c.626C>T (p.Ala209Val) GRCh37: Chr7:117175348 GRCh38: Chr7:117535294	CFTR	A209V	Cystic fibrosis	Uncertain significance (Mar 17, 2023)	criteria provided, single submitter
Select item 256785667.	NM_000492.4(CFTR):c.3469-11T>G GRCh37: Chr7:117267565 GRCh38: Chr7:117627511	CFTR		Cystic fibrosis	Likely benign (Mar 30, 2023)	criteria provided, single submitter
Select item 256785568.	NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu) GRCh37: Chr7:117267735 GRCh38: Chr7:117627681	CFTR	M1210L	Cystic fibrosis	Uncertain significance (Mar 15, 2023)	criteria provided, single submitter
Select item 256253269.	NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs) GRCh37: Chr7:117267802-117267803 GRCh38: Chr7:117627748-117627749	CFTR	S1233fs	Cystic fibrosis	Pathogenic (May 17, 2023)	criteria provided, single submitter
Select item 256253170.	NM_000492.4(CFTR):c.1999C>T (p.His667Tyr) GRCh37: Chr7:117232220 GRCh38: Chr7:117592166	CFTR	H667Y	Cystic fibrosis	Uncertain significance (Apr 21, 2023)	criteria provided, single submitter
Select item 256253071.	NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala) GRCh37: Chr7:117267813 GRCh38: Chr7:117627759	CFTR	P1236A	Cystic fibrosis	Uncertain significance (May 5, 2023)	criteria provided, single submitter
Select item 256252972.	NM_000492.4(CFTR):c.587C>G (p.Ala196Gly) GRCh37: Chr7:117175309 GRCh38: Chr7:117535255	CFTR	A196G	Cystic fibrosis	Uncertain significance (May 14, 2023)	criteria provided, single submitter
Select item 256252773.	NM_000492.4(CFTR):c.4357C>A (p.Arg1453=) GRCh37: Chr7:117307076 GRCh38: Chr7:117667022	CFTR, LOC111674477		Cystic fibrosis	Likely benign (Jun 12, 2023)	criteria provided, single submitter
Select item 256252674.	NM_000492.4(CFTR):c.4137-12T>C GRCh37: Chr7:117305501 GRCh38: Chr7:117665447	CFTR		Cystic fibrosis	Likely benign (Jun 6, 2023)	criteria provided, single submitter
Select item 256252575.	NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val) GRCh37: Chr7:117251772 GRCh38: Chr7:117611718	CFTR, LOC111674472	L1093V	Cystic fibrosis	Uncertain significance (Apr 30, 2023)	criteria provided, single submitter
Select item 256252476.	NM_000492.4(CFTR):c.754G>T (p.Ala252Ser) GRCh37: Chr7:117176612 GRCh38: Chr7:117536558	CFTR	A252S	Cystic fibrosis	Uncertain significance (May 25, 2023)	criteria provided, single submitter
Select item 256252377.	NM_000492.4(CFTR):c.3824A>G (p.Asp1275Gly) GRCh37: Chr7:117282598 GRCh38: Chr7:117642544	CFTR	D1275G	Cystic fibrosis	Uncertain significance (Apr 30, 2023)	criteria provided, single submitter
Select item 256252278.	NM_000492.4(CFTR):c.1043T>C (p.Met348Thr) GRCh37: Chr7:117180327 GRCh38: Chr7:117540273	CFTR	M348T	Cystic fibrosis	Uncertain significance (Jun 4, 2023)	criteria provided, single submitter
Select item 256252179.	NM_000492.4(CFTR):c.2238G>C (p.Glu746Asp) GRCh37: Chr7:117232459 GRCh38: Chr7:117592405	CFTR	E746D	Cystic fibrosis	Uncertain significance (Jun 12, 2023)	criteria provided, single submitter
Select item 256251980.	NM_000492.4(CFTR):c.743+11A>G GRCh37: Chr7:117175476 GRCh38: Chr7:117535422	CFTR		Cystic fibrosis	Likely benign (Apr 25, 2023)	criteria provided, single submitter
Select item 256251881.	NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu) GRCh37: Chr7:117227833 GRCh38: Chr7:117587779	CFTR, LOC111674475	G542E	not specified, Cystic fibrosis	Uncertain significance (Jul 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 256251682.	NM_000492.4(CFTR):c.1612A>C (p.Asn538His) GRCh37: Chr7:117227820 GRCh38: Chr7:117587766	CFTR, LOC111674475	N538H	Cystic fibrosis	Uncertain significance (Jun 13, 2023)	criteria provided, single submitter
Select item 256251583.	NM_000492.4(CFTR):c.4370A>T (p.Lys1457Met) GRCh37: Chr7:117307089 GRCh38: Chr7:117667035	CFTR, LOC111674477	K1457M	Cystic fibrosis	Uncertain significance (May 13, 2023)	criteria provided, single submitter
Select item 256251484.	NM_000492.4(CFTR):c.682G>A (p.Gly228Ser) GRCh37: Chr7:117175404 GRCh38: Chr7:117535350	CFTR	G228S	Cystic fibrosis	Uncertain significance (May 19, 2023)	criteria provided, single submitter
Select item 256251385.	NM_000492.4(CFTR):c.1392+19A>G GRCh37: Chr7:117188896 GRCh38: Chr7:117548842	CFTR, CFTR-AS1		Cystic fibrosis	Likely benign (Apr 12, 2023)	criteria provided, single submitter
Select item 256251286.	NM_000492.4(CFTR):c.310A>G (p.Arg104Gly) GRCh37: Chr7:117170989 GRCh38: Chr7:117530935	CFTR	R104G	Cystic fibrosis	Uncertain significance (Apr 27, 2023)	criteria provided, single submitter
Select item 256251187.	NM_000492.4(CFTR):c.729G>A (p.Met243Ile) GRCh37: Chr7:117175451 GRCh38: Chr7:117535397	CFTR	M243I	Cystic fibrosis	Uncertain significance (Mar 23, 2023)	criteria provided, single submitter
Select item 256138888.	NM_000492.4(CFTR):c.4108G>C (p.Asp1370His) GRCh37: Chr7:117304886 GRCh38: Chr7:117664832	CFTR	D1370H	Cystic fibrosis	Uncertain significance (Apr 25, 2023)	criteria provided, single submitter
Select item 256138589.	NM_000492.4(CFTR):c.1679+11A>G GRCh37: Chr7:117227898 GRCh38: Chr7:117587844	LOC111674475, CFTR		Cystic fibrosis	Likely benign (Mar 31, 2023)	criteria provided, single submitter
Select item 256138490.	NM_000492.4(CFTR):c.2620-12G>A GRCh37: Chr7:117242868 GRCh38: Chr7:117602814	CFTR		Cystic fibrosis	Likely benign (Apr 10, 2023)	criteria provided, single submitter
Select item 250739891.	NM_000492.4(CFTR):c.4312del (p.Arg1438fs) GRCh37: Chr7:117307030 GRCh38: Chr7:117666976	CFTR, LOC111674477	R1438fs	Cystic fibrosis	Likely pathogenic (Jul 4, 2023)	criteria provided, single submitter
Select item 250620992.	NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup GRCh37: Chr7:117149197-117246727	CFTR		Cystic fibrosis	Likely pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 250620693.	NM_000492.4(CFTR):c.489+43_580-354del GRCh37: Chr7:117171211-117174948 GRCh38: Chr7:117531157-117534894	CFTR		Cystic fibrosis	Likely pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 250620594.	NC_000007.13:g.(117149197_117170952)_(117199710_117227792)del GRCh37: Chr7:117149197-117227792	CFTR		Cystic fibrosis	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 250620495.	NC_000007.13:g.(117199710_117227792)_(117227888_117230406)del GRCh37: Chr7:117199710-117230406	CFTR		Cystic fibrosis	Pathogenic (May 15, 2023)	criteria provided, single submitter
Select item 250620396.	NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del GRCh37: Chr7:117171169-117175301	CFTR		Cystic fibrosis	Likely pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 250392997.	NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter) GRCh37: Chr7:117307127 GRCh38: Chr7:117667073	CFTR, LOC111674477	E1470*	Cystic fibrosis	Likely pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 250392698.	NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del GRCh37: Chr7:117180401-117188694	CFTR		Cystic fibrosis	Likely pathogenic (Apr 21, 2023)	criteria provided, single submitter
Select item 250392499.	NM_000492.4(CFTR):c.3140-11A>G GRCh37: Chr7:117251624 GRCh38: Chr7:117611570	CFTR, LOC111674472		Cystic fibrosis	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 2503110100.	NM_000492.4(CFTR):c.743+554A>G GRCh37: Chr7:117176019 GRCh38: Chr7:117535965	CFTR		Cystic fibrosis	Likely benign (Mar 10, 2023)	criteria provided, single submitter

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