ClinVar for MedGen (Select 9944) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24982821.	NM_004333.6(BRAF):c.1799_1800delinsAC (p.Val600Asp) GRCh37: Chr7:140453135-140453136 GRCh38: Chr7:140753335-140753336	BRAF	V512D, V548D, V563D, V566D, V578D, V600D, V603D, V640D	Melanoma	Uncertain significance (Mar 28, 2023)	no assertion criteria provided
Select item 22030232.	NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys) GRCh37: Chr2:25463248 GRCh38: Chr2:25240379	DNMT3A	R749C, R597C, R526C, R560C	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 5233153.	NM_000059.4(BRCA2):c.2063A>G (p.Tyr688Cys) GRCh37: Chr13:32910555 GRCh38: Chr13:32336418	BRCA2	Y688C	Melanoma, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 4198024.	NM_000077.5(CDKN2A):c.197A>C (p.His66Pro) GRCh37: Chr9:21971161 GRCh38: Chr9:21971162	CDKN2A	H66P, H15P	Melanoma, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3763625.	NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) GRCh37: Chr7:6426892 GRCh38: Chr7:6387261	RAC1	P29S	Malignant neoplasm of body of uterus, Squamous cell carcinoma of the skin, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 3763586.	NM_004958.4(MTOR):c.6637C>T (p.Pro2213Ser) GRCh37: Chr1:11184580 GRCh38: Chr1:11124523	MTOR	P2213S	Melanoma	not provided (Mar 10, 2016)	no assertion provided
Select item 3763577.	NM_004958.4(MTOR):c.5902C>T (p.His1968Tyr) GRCh37: Chr1:11188519 GRCh38: Chr1:11128462	MTOR	H1968Y	Melanoma	not provided (Mar 10, 2016)	no assertion provided
Select item 3762958.	NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) GRCh37: Chr7:140481411 GRCh38: Chr7:140781611	BRAF	G466A, G378A, G414A, G429A, G432A, G444A, G469A, G506A	Melanoma, Malignant melanoma of skin, Neoplasm of the large intestine, Multiple myeloma, Squamous cell lung carcinoma, Lung adenocarcinoma, Squamous cell carcinoma of the head and neck	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 3762909.	NM_004333.6(BRAF):c.1784T>C (p.Phe595Ser) GRCh37: Chr7:140453151 GRCh38: Chr7:140753351	BRAF	F595S, F507S, F543S, F558S, F561S, F573S, F598S, F635S	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37628910.	NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) GRCh37: Chr7:140453137 GRCh38: Chr7:140753337	BRAF	V600L, V512L, V548L, V563L, V566L, V578L, V603L, V640L	Cardiofaciocutaneous syndrome 1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
Select item 37628811.	NM_004333.6(BRAF):c.1799T>C (p.Val600Ala) GRCh37: Chr7:140453136 GRCh38: Chr7:140753336	BRAF	V600A, V512A, V548A, V563A, V566A, V578A, V603A, V640A	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37628712.	NM_004333.6(BRAF):c.1801_1803del (p.Lys601del) GRCh37: Chr7:140453132-140453134 GRCh38: Chr7:140753332-140753334	BRAF	K601del, K513del, K549del, K564del, K567del, K579del, K604del, K641del	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37628613.	NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) GRCh37: Chr7:140453132 GRCh38: Chr7:140753332	BRAF	K601N, K513N, K549N, K564N, K567N, K579N, K604N, K641N	RASopathy	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 37628514.	NM_004333.6(BRAF):c.1803A>T (p.Lys601Asn) GRCh37: Chr7:140453132 GRCh38: Chr7:140753332	BRAF	K601N, K513N, K549N, K564N, K567N, K579N, K604N, K641N	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37628415.	NM_004333.6(BRAF):c.1813_1814delinsTT (p.Ser605Phe) GRCh37: Chr7:140453121-140453122 GRCh38: Chr7:140753321-140753322	BRAF	S605F, S517F, S553F, S568F, S571F, S583F, S608F, S645F	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37628316.	NM_004333.6(BRAF):c.1814G>A (p.Ser605Asn) GRCh37: Chr7:140453121 GRCh38: Chr7:140753321	BRAF	S605N, S517N, S553N, S568N, S571N, S583N, S608N, S645N	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37625617.	NM_000222.3(KIT):c.2474T>C (p.Val825Ala) GRCh37: Chr4:55599348 GRCh38: Chr4:54733182	KIT	V825A, V821A, V820A, V822A, V824A, V826A	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37624018.	NM_001904.4(CTNNB1):c.119C>T (p.Thr40Ile) GRCh37: Chr3:41266122 GRCh38: Chr3:41224631	CTNNB1, LOC126806658	T40I, T33I	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37622919.	NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) GRCh37: Chr3:41266098 GRCh38: Chr3:41224607	CTNNB1, LOC126806658	D32A, D25A	Neoplasm of uterine cervix, Melanoma, Gastric adenocarcinoma, Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Malignant melanoma of skin, Hepatocellular carcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37622720.	NM_001904.4(CTNNB1):c.74_97del (p.Trp25_Asp32del) GRCh37: Chr3:41266074-41266097 GRCh38: Chr3:41224583-41224606	CTNNB1, LOC126806658		Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37622621.	NM_001904.4(CTNNB1):c.65T>C (p.Val22Ala) GRCh37: Chr3:41266068 GRCh38: Chr3:41224577	CTNNB1, LOC126806658	V22A, V15A	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37622522.	NM_001904.4(CTNNB1):c.65_115del (p.Val22_Gly38del) GRCh37: Chr3:41266066-41266116 GRCh38: Chr3:41224575-41224625	CTNNB1, LOC126806658		Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37622423.	NM_001904.4(CTNNB1):c.61G>A (p.Ala21Thr) GRCh37: Chr3:41266064 GRCh38: Chr3:41224573	CTNNB1, LOC126806658	A21T, A14T	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37622324.	NM_001904.4(CTNNB1):c.37G>A (p.Ala13Thr) GRCh37: Chr3:41266040 GRCh38: Chr3:41224549	CTNNB1, LOC126806658	A13T, A6T	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37622025.	NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg) GRCh37: Chr1:115256529-115256530 GRCh38: Chr1:114713908-114713909	NRAS	Q61R	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37618626.	NM_002880.4(RAF1):c.1103G>C (p.Trp368Ser) GRCh37: Chr3:12641195 GRCh38: Chr3:12599696	RAF1	W368S, W287S, W388S, W307S, W335S, W254S	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37618527.	NM_006206.6(PDGFRA):c.2558G>A (p.Gly853Asp) GRCh37: Chr4:55152126 GRCh38: Chr4:54285959	PDGFRA	G853D, G866D, G878D	Gastrointestinal stroma tumor	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 37618428.	NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr) GRCh37: Chr4:55152101 GRCh38: Chr4:54285934	PDGFRA	H845Y, H858Y, H870Y	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37618329.	NM_006206.6(PDGFRA):c.2522G>A (p.Arg841Lys) GRCh37: Chr4:55152090 GRCh38: Chr4:54285923	PDGFRA	R841K, R854K, R866K	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37618230.	NM_006206.6(PDGFRA):c.1973T>C (p.Val658Ala) GRCh37: Chr4:55144144 GRCh38: Chr4:54277977	PDGFRA	V658A, V671A, V683A	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37618131.	NM_006206.6(PDGFRA):c.1729C>T (p.Pro577Ser) GRCh37: Chr4:55141083 GRCh38: Chr4:54274916	PDGFRA	P577S, P602S, P590S	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37618032.	NM_030662.4(MAP2K2):c.103G>A (p.Val35Met) GRCh37: Chr19:4117617 GRCh38: Chr19:4117619	MAP2K2	V35M	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37617933.	NM_030662.4(MAP2K2):c.136C>T (p.Leu46Phe) GRCh37: Chr19:4117584 GRCh38: Chr19:4117586	MAP2K2	L46F	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37617834.	NM_030662.4(MAP2K2):c.179A>C (p.Gln60Pro) GRCh37: Chr19:4117541 GRCh38: Chr19:4117543	MAP2K2	Q60P	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37617735.	NM_030662.4(MAP2K2):c.373T>A (p.Cys125Ser) GRCh37: Chr19:4110584 GRCh38: Chr19:4110586	MAP2K2	C125S	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37617636.	NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) GRCh37: Chr19:4110581 GRCh38: Chr19:4110583	MAP2K2	N126D	Cardiofaciocutaneous syndrome 4, RASopathy	Pathogenic/Likely pathogenic (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37617537.	NM_002755.4(MAP2K1):c.385T>C (p.Phe129Leu) GRCh37: Chr15:66729177 GRCh38: Chr15:66436839	MAP2K1	F129L	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37617438.	NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) GRCh37: Chr15:66727455 GRCh38: Chr15:66435117	MAP2K1	K57N	Melanoma, Prostate adenocarcinoma, Gastric adenocarcinoma, Malignant melanoma of skin, Lung adenocarcinoma, Non-Hodgkin lymphoma, Squamous cell carcinoma of the head and neck	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37617339.	NM_002755.4(MAP2K1):c.169A>G (p.Lys57Glu) GRCh37: Chr15:66727453 GRCh38: Chr15:66435115	MAP2K1	K57E	Melanoma, Melorheostosis	Pathogenic/Likely pathogenic (Jun 23, 2020)	no assertion criteria provided
Select item 37617240.	NM_005235.3(ERBB4):c.1177C>T (p.Arg393Trp) GRCh37: Chr2:212570064 GRCh38: Chr2:211705339	ERBB4	R393W	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37617141.	NM_005235.3(ERBB4):c.1624G>A (p.Glu542Lys) GRCh37: Chr2:212537981 GRCh38: Chr2:211673256	ERBB4	E542K	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37617042.	NM_005235.3(ERBB4):c.2614G>A (p.Glu872Lys) GRCh37: Chr2:212295699 GRCh38: Chr2:211430974	ERBB4	E872K	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37616943.	NM_004333.6(BRAF):c.1802A>G (p.Lys601Arg) GRCh37: Chr7:140453133 GRCh38: Chr7:140753333	BRAF	K601R, K513R, K549R, K564R, K567R, K579R, K604R, K641R	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37616844.	NM_001382430.1(AKT1):c.235C>A (p.Gln79Lys) GRCh37: Chr14:105243048 GRCh38: Chr14:104776711	AKT1	Q79K	Melanoma	Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37607445.	NM_004333.6(BRAF):c.1330C>T (p.Arg444Trp) GRCh37: Chr7:140481478 GRCh38: Chr7:140781678	BRAF	R444W, R356W, R392W, R407W, R410W, R422W, R447W, R484W	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37607346.	NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) GRCh37: Chr7:140481411 GRCh38: Chr7:140781611	BRAF	G466E, G378E, G414E, G429E, G432E, G444E, G469E, G506E	Noonan syndrome 7, RASopathy	Conflicting interpretations of pathogenicity (Jan 23, 2023)	criteria provided, conflicting interpretations
Select item 37607247.	NM_004333.6(BRAF):c.1405_1406delinsTC (p.Gly469Ser) GRCh37: Chr7:140481402-140481403 GRCh38: Chr7:140781602-140781603	BRAF	G469S, G381S, G417S, G432S, G435S, G447S, G472S, G509S	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37607148.	NM_004333.6(BRAF):c.1774A>G (p.Ile592Val) GRCh37: Chr7:140453161 GRCh38: Chr7:140753361	BRAF	I592V, I504V, I540V, I555V, I558V, I570V, I595V, I632V	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37607049.	NM_004333.6(BRAF):c.1781A>C (p.Asp594Ala) GRCh37: Chr7:140453154 GRCh38: Chr7:140753354	BRAF	D594A, D506A, D542A, D557A, D560A, D572A, D597A, D634A	Melanoma	Likely pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37606950.	NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) GRCh37: Chr7:140453135-140453136 GRCh38: Chr7:140753335-140753336	BRAF	V600E, V512E, V548E, V563E, V566E, V578E, V603E, V640E	Melanoma, Colonic neoplasm	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37605751.	NM_000222.3(KIT):c.1961T>A (p.Val654Glu) GRCh37: Chr4:55594258 GRCh38: Chr4:54728092	KIT	V654E, V650E, V651E, V655E	Melanoma	Likely pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37605452.	NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) GRCh37: Chr3:41266097 GRCh38: Chr3:41224606	CTNNB1, LOC126806658	D32H, D25H	Neoplasm of uterine cervix, Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Malignant melanoma of skin, Medulloblastoma, Melanoma, Hepatocellular carcinoma, Transitional cell carcinoma of the bladder	Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37602853.	NM_002524.5(NRAS):c.52G>A (p.Ala18Thr) GRCh37: Chr1:115258730 GRCh38: Chr1:114716109	NRAS	A18T	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37602754.	NM_002524.5(NRAS):c.181C>T (p.Gln61Ter) GRCh37: Chr1:115256530 GRCh38: Chr1:114713909	NRAS	Q61*	Melanoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37600255.	NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) GRCh37: Chr19:3118942 GRCh38: Chr19:3118944	GNA11	Q209L	not provided, See cases	Pathogenic/Likely pathogenic (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37600156.	NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) GRCh37: Chr19:3118942 GRCh38: Chr19:3118944	GNA11	Q209P	Melanoma, Uveal melanoma	Pathogenic/Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37598457.	NM_002755.4(MAP2K1):c.1144A>C (p.Asn382His) GRCh37: Chr15:66782915 GRCh38: Chr15:66490577	MAP2K1, SNAPC5	N382H, N334H	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37598358.	NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser) GRCh37: Chr15:66777424 GRCh38: Chr15:66485086	MAP2K1	P264S	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37598259.	NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) GRCh37: Chr15:66774131 GRCh38: Chr15:66481793	MAP2K1	E203K	Inborn genetic diseases, Cardiofaciocutaneous syndrome 3	Likely pathogenic (Jul 2, 2018)	criteria provided, multiple submitters, no conflicts
Select item 37598160.	NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) GRCh37: Chr15:66729162 GRCh38: Chr15:66436824	MAP2K1	P124S	RASopathy	Pathogenic (Jul 2, 2020)	reviewed by expert panel FDA Recognized Database
Select item 37598061.	NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) GRCh37: Chr15:66729154 GRCh38: Chr15:66436816	MAP2K1	C121S	Melanoma, Lung adenocarcinoma	Pathogenic/Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37597962.	NM_002755.4(MAP2K1):c.332T>G (p.Ile111Ser) GRCh37: Chr15:66729124 GRCh38: Chr15:66436786	MAP2K1	I111S	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37597863.	NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) GRCh37: Chr15:66727451 GRCh38: Chr15:66435113	MAP2K1	Q56P	not provided	Pathogenic (Jul 2, 2021)	criteria provided, single submitter
Select item 37597764.	NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu) GRCh37: Chr15:66727441 GRCh38: Chr15:66435103	MAP2K1	F53L	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37595765.	NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) GRCh37: Chr9:80409488 GRCh38: Chr9:77794572	GNAQ	Q209P	Melanoma, Uveal melanoma	Pathogenic/Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37595666.	NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) GRCh37: Chr9:80409488 GRCh38: Chr9:77794572	GNAQ	Q209R	Melanoma, Abnormal cardiovascular system morphology	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37595567.	NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) GRCh37: Chr9:80409488 GRCh38: Chr9:77794572	GNAQ	Q209L	Melanoma, Uveal melanoma	Pathogenic/Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37594868.	NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn) GRCh37: Chr7:140453155-140453156 GRCh38: Chr7:140753355-140753356	BRAF	D594N, D506N, D542N, D557N, D560N, D572N, D597N, D634N	Melanoma, Gallbladder cancer	Pathogenic/Likely pathogenic (Oct 30, 2020)	no assertion criteria provided
Select item 37594769.	NM_004333.6(BRAF):c.1780G>C (p.Asp594His) GRCh37: Chr7:140453155 GRCh38: Chr7:140753355	BRAF	D594H, D506H, D542H, D557H, D560H, D572H, D597H, D634H	Neoplasm of the large intestine, Adrenal cortex carcinoma, Chronic lymphatic leukemia, Neoplasm of brain, Multiple myeloma, Malignant melanoma of skin, Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, Melanoma, Transitional cell carcinoma of the bladder	Pathogenic/Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37594670.	NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) GRCh37: Chr7:140453154 GRCh38: Chr7:140753354	BRAF	D594V, D506V, D542V, D557V, D560V, D572V, D597V, D634V	RASopathy	Pathogenic (May 18, 2020)	reviewed by expert panel FDA Recognized Database
Select item 37594571.	NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu) GRCh37: Chr7:140453153 GRCh38: Chr7:140753353	BRAF	D594E, D506E, D542E, D557E, D560E, D572E, D597E, D634E	Melanoma	Pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37594472.	NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) GRCh37: Chr7:140453153 GRCh38: Chr7:140753353	BRAF	D594E, D506E, D542E, D557E, D560E, D572E, D597E, D634E	Melanoma, Cardio-facio-cutaneous syndrome	Pathogenic/Likely pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37594373.	NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) GRCh37: Chr7:140453149 GRCh38: Chr7:140753349	BRAF	G596R, G508R, G544R, G559R, G562R, G574R, G599R, G636R	Multiple myeloma, Melanoma, Neoplasm of the large intestine, Glioblastoma, Transitional cell carcinoma of the bladder, Lung adenocarcinoma	Pathogenic/Likely pathogenic (May 31, 2016)	no assertion criteria provided
Select item 37594274.	NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) GRCh37: Chr7:140453145-140453146 GRCh38: Chr7:140753345-140753346	BRAF	L597S, L509S, L545S, L560S, L563S, L575S, L600S, L637S	Melanoma	Pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37594175.	NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) GRCh37: Chr7:140453136-140453137 GRCh38: Chr7:140753336-140753337	BRAF	V600K, V512K, V548K, V563K, V566K, V578K, V603K, V640K	Trametinib-Dabrafenib Response, Vemurafenib-Cobimetinib Response	drug response	criteria provided, single submitter
Select item 37594076.	NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg) GRCh37: Chr7:140453136-140453137 GRCh38: Chr7:140753336-140753337	BRAF	V600R, V512R, V548R, V563R, V566R, V578R, V603R, V640R	Melanoma	Pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37593977.	NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) GRCh37: Chr7:140453135-140453136 GRCh38: Chr7:140753335-140753336	BRAF	V600D, V512D, V548D, V563D, V566D, V578D, V603D, V640D	Melanoma	Pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37593378.	NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) GRCh37: Chr4:55602664 GRCh38: Chr4:54736498	KIT	A829P, A825P, A824P, A826P, A828P, A830P	Gastrointestinal stroma tumor, Melanoma	Pathogenic/Likely pathogenic (Dec 26, 2014)	no assertion criteria provided
Select item 37593279.	NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) GRCh37: Chr4:55599340 GRCh38: Chr4:54733174	KIT	N822K, N818K, N817K, N819K, N821K, N823K	not provided	Pathogenic (Jan 8, 2015)	criteria provided, single submitter
Select item 37593180.	NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) GRCh37: Chr4:55599340 GRCh38: Chr4:54733174	KIT	N822K, N818K, N817K, N819K, N821K, N823K	not provided, Gastrointestinal stroma tumor	Conflicting interpretations of pathogenicity (Aug 30, 2021)	criteria provided, conflicting interpretations
Select item 37593081.	NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) GRCh37: Chr4:55599339 GRCh38: Chr4:54733173	KIT	N822I, N818I, N817I, N819I, N821I, N823I	Cutaneous mastocytosis, Gastrointestinal stroma tumor, Melanoma	Pathogenic/Likely pathogenic (Jun 25, 2018)	no assertion criteria provided
Select item 37592882.	NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) GRCh37: Chr4:55599332 GRCh38: Chr4:54733166	KIT	D820Y, D816Y, D815Y, D817Y, D819Y, D821Y	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37592783.	NM_000222.3(KIT):c.2458G>C (p.Asp820His) GRCh37: Chr4:55599332 GRCh38: Chr4:54733166	KIT	D820H, D816H, D815H, D817H, D819H, D821H	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37592484.	NM_000222.3(KIT):c.1965T>G (p.Asn655Lys) GRCh37: Chr4:55594262 GRCh38: Chr4:54728096	KIT	N655K, N651K, N652K, N656K	Gastrointestinal stroma tumor	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 37592385.	NM_000222.3(KIT):c.1965T>A (p.Asn655Lys) GRCh37: Chr4:55594262 GRCh38: Chr4:54728096	KIT	N655K, N651K, N652K, N656K	Gastrointestinal stroma tumor	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 37592286.	NM_000222.3(KIT):c.1964A>G (p.Asn655Ser) GRCh37: Chr4:55594261 GRCh38: Chr4:54728095	KIT	N655S, N651S, N652S, N656S	Gastrointestinal stroma tumor	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 37592187.	NM_000222.3(KIT):c.1961T>C (p.Val654Ala) GRCh37: Chr4:55594258 GRCh38: Chr4:54728092	KIT	V654A, V650A, V651A, V655A	Gastrointestinal stroma tumor	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 37591988.	NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) GRCh37: Chr4:55593661 GRCh38: Chr4:54727495	KIT	L576P, L572P, L573P, L577P	Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Sep 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37591889.	NM_000222.3(KIT):c.1706T>G (p.Val569Gly) GRCh37: Chr4:55593640 GRCh38: Chr4:54727474	KIT	V569G, V565G, V566G, V570G	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37591790.	NM_000222.3(KIT):c.1696A>G (p.Asn566Asp) GRCh37: Chr4:55593630 GRCh38: Chr4:54727464	KIT	N566D, N562D, N563D, N567D	Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 37591691.	NM_000222.3(KIT):c.1679T>G (p.Val560Gly) GRCh37: Chr4:55593613 GRCh38: Chr4:54727447	KIT	V560G, V556G, V557G, V561G	Melanoma, Gastrointestinal stroma tumor	Pathogenic/Likely pathogenic (May 13, 2016)	no assertion criteria provided
Select item 37591592.	NM_000222.3(KIT):c.1679T>C (p.Val560Ala) GRCh37: Chr4:55593613 GRCh38: Chr4:54727447	KIT	V560A, V556A, V557A, V561A	Gastrointestinal stroma tumor	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 37591493.	NM_000222.3(KIT):c.1679T>A (p.Val560Asp) GRCh37: Chr4:55593613 GRCh38: Chr4:54727447	KIT	V560D, V556D, V557D, V561D	Melanoma, Gastrointestinal stroma tumor	Pathogenic/Likely pathogenic (May 13, 2016)	no assertion criteria provided
Select item 37591394.	NM_000222.3(KIT):c.1676TTG[1] (p.Val560del) GRCh37: Chr4:55593609-55593611 GRCh38: Chr4:54727443-54727445	KIT	V560del, V556del, V557del, V561del	Thymoma, Melanoma, Gastrointestinal stromal tumor, familial	Pathogenic/Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 37591295.	NM_000222.3(KIT):c.1676T>G (p.Val559Gly) GRCh37: Chr4:55593610 GRCh38: Chr4:54727444	KIT	V559G, V555G, V556G, V560G	Melanoma, Gastrointestinal stroma tumor	Pathogenic/Likely pathogenic (May 13, 2016)	no assertion criteria provided
Select item 37591196.	NM_000222.3(KIT):c.1674G>T (p.Lys558Asn) GRCh37: Chr4:55593608 GRCh38: Chr4:54727442	KIT	K558N, K554N, K555N, K559N	Gastrointestinal stroma tumor, Melanoma	Pathogenic/Likely pathogenic (May 13, 2016)	no assertion criteria provided
Select item 37591097.	NM_000222.3(KIT):c.1674G>C (p.Lys558Asn) GRCh37: Chr4:55593608 GRCh38: Chr4:54727442	KIT	K558N, K554N, K555N, K559N	Gastrointestinal stroma tumor	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37590998.	NM_000222.3(KIT):c.1669T>C (p.Trp557Arg) GRCh37: Chr4:55593603 GRCh38: Chr4:54727437	KIT	W557R, W553R, W554R, W558R	Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37590899.	NM_000222.3(KIT):c.1669T>A (p.Trp557Arg) GRCh37: Chr4:55593603 GRCh38: Chr4:54727437	KIT	W557R, W553R, W554R, W558R	Gastrointestinal stroma tumor, Melanoma	Pathogenic/Likely pathogenic (May 13, 2016)	no assertion criteria provided
Select item 375907100.	NM_000222.3(KIT):c.1657T>A (p.Tyr553Asn) GRCh37: Chr4:55593591 GRCh38: Chr4:54727425	KIT	Y553N, Y549N, Y550N, Y554N	Thymoma, Melanoma	Pathogenic (Oct 2, 2014)	no assertion criteria provided

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