ClinVar for MedGen (Select 268851) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24223121.	NC_000009.11:g.(?_21974667)_(22160087_?)dup GRCh37: Chr9:21974667-22160087	CDKN2A, CDKN2B, CDKN2B-AS1		Familial melanoma	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 24223112.	NC_000009.11:g.(?_21971106)_(21972068_?)del GRCh37: Chr9:21971106-21972068	CDKN2A		Familial melanoma	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 24223103.	NC_000009.11:g.(?_21968228)_(21971217_?)del GRCh37: Chr9:21968228-21971217	CDKN2A		Familial melanoma	Pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 24223094.	NC_000009.11:g.(?_21970891)_(21973573_?)del GRCh37: Chr9:21970891-21973573	CDKN2A		Familial melanoma	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 24223085.	NC_000012.11:g.(?_57534470)_(58190366_?)dup GRCh37: Chr12:57534470-58190366	AGAP2, ARHGAP9, ARHGEF25, B4GALNT1, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIR616, NDUFA4L2, NXPH4, OS9, PIP4K2C, R3HDM2, SHMT2, STAC3, TSFM, TSPAN31		Familial melanoma	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 24223076.	NC_000012.11:g.(?_58144696)_(58145500_?)dup GRCh37: Chr12:58144696-58145500	CDK4		Familial melanoma	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 24223067.	NC_000012.11:g.(?_58144419)_(58160824_?)dup GRCh37: Chr12:58144419-58160824	MARCHF9, CDK4, CYP27B1		Familial melanoma	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 24223058.	NC_000012.11:g.(?_58142308)_(58145500_?)del GRCh37: Chr12:58142308-58145500	CDK4		Familial melanoma	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 24211499.	NM_000075.4(CDK4):c.448A>G (p.Ser150Gly) GRCh37: Chr12:58144780 GRCh38: Chr12:57750997	CDK4	S150G	Familial melanoma	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 241602210.	NM_000077.5(CDKN2A):c.173G>T (p.Arg58Leu) GRCh37: Chr9:21971185 GRCh38: Chr9:21971186	CDKN2A	R58L, R7L	Familial melanoma	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 220035411.	NM_000077.5(CDKN2A):c.250G>C (p.Asp84His) GRCh37: Chr9:21971108 GRCh38: Chr9:21971109	CDKN2A	D84H, R98P, D33H	Familial melanoma	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 219815612.	NM_005981.5(TSPAN31):c.*1335G>C GRCh37: Chr12:58142408 GRCh38: Chr12:57748625	MIR6759, CDK4, TSPAN31		Familial melanoma	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 219446013.	NM_000075.4(CDK4):c.390C>T (p.Phe130=) GRCh37: Chr12:58144838 GRCh38: Chr12:57751055	CDK4		Familial melanoma	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 219440114.	NM_000075.4(CDK4):c.48C>T (p.Ala16=) GRCh37: Chr12:58145453 GRCh38: Chr12:57751670	CDK4		Familial melanoma	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 219140115.	NM_000075.4(CDK4):c.522+15G>A GRCh37: Chr12:58144691 GRCh38: Chr12:57750908	CDK4		Familial melanoma	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 219005916.	NM_000075.4(CDK4):c.505A>G (p.Met169Val) GRCh37: Chr12:58144723 GRCh38: Chr12:57750940	CDK4	I29T, M169V	Familial melanoma	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 218178317.	NM_000077.5(CDKN2A):c.18G>A (p.Gly6=) GRCh37: Chr9:21974809 GRCh38: Chr9:21974810	CDKN2A		Familial melanoma, Hereditary cancer-predisposing syndrome	Likely benign (Jun 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218162118.	NM_005981.5(TSPAN31):c.*2234A>G GRCh37: Chr12:58143307 GRCh38: Chr12:57749524	TSPAN31, CDK4		Familial melanoma	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 217893419.	NM_000075.4(CDK4):c.556C>T (p.Leu186Phe) GRCh37: Chr12:58144515 GRCh38: Chr12:57750732	CDK4	R12K, L186F	Familial melanoma	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 217852220.	NM_005981.5(TSPAN31):c.*1884T>A GRCh37: Chr12:58142957 GRCh38: Chr12:57749174	CDK4, TSPAN31		Familial melanoma	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 217299921.	NM_000077.5(CDKN2A):c.416G>T (p.Gly139Val) GRCh37: Chr9:21970942 GRCh38: Chr9:21970943	CDKN2A	G88V, G139V	Familial melanoma	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 217175422.	NM_000075.4(CDK4):c.632+13C>T GRCh37: Chr12:58144426 GRCh38: Chr12:57750643	CDK4		Familial melanoma	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 217121123.	NM_000075.4(CDK4):c.218+15G>A GRCh37: Chr12:58145268 GRCh38: Chr12:57751485	CDK4, LOC130008148		Familial melanoma	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 216793924.	NM_000077.5(CDKN2A):c.150+15T>C GRCh37: Chr9:21974662 GRCh38: Chr9:21974663	CDKN2A		Familial melanoma	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 216342825.	NM_000075.4(CDK4):c.729C>T (p.Ser243=) GRCh37: Chr12:58143055 GRCh38: Chr12:57749272	CDK4, TSPAN31		Familial melanoma	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 216342726.	NM_000075.4(CDK4):c.732G>A (p.Leu244=) GRCh37: Chr12:58143052 GRCh38: Chr12:57749269	CDK4, TSPAN31		Familial melanoma	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 216303627.	NM_000075.4(CDK4):c.354+18G>A GRCh37: Chr12:58144972 GRCh38: Chr12:57751189	CDK4		Familial melanoma	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 216031528.	NM_000075.4(CDK4):c.786T>C (p.Pro262=) GRCh37: Chr12:58142998 GRCh38: Chr12:57749215	CDK4, TSPAN31		Familial melanoma	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 215777729.	NM_000075.4(CDK4):c.219-11A>G GRCh37: Chr12:58145136 GRCh38: Chr12:57751353	CDK4		Familial melanoma	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 215678430.	NM_005981.5(TSPAN31):c.*2039A>G GRCh37: Chr12:58143112 GRCh38: Chr12:57749329	TSPAN31, CDK4		Familial melanoma	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 215453931.	NM_000075.4(CDK4):c.748C>G (p.Pro250Ala) GRCh37: Chr12:58143036 GRCh38: Chr12:57749253	CDK4, TSPAN31	P250A	Familial melanoma	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 215138032.	NM_000077.5(CDKN2A):c.293A>G (p.His98Arg) GRCh37: Chr9:21971065 GRCh38: Chr9:21971066	CDKN2A	H98R, H47R	Familial melanoma	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 214703533.	NM_005981.5(TSPAN31):c.*1879C>G GRCh37: Chr12:58142952 GRCh38: Chr12:57749169	TSPAN31, CDK4		Familial melanoma	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 214659234.	NM_000077.5(CDKN2A):c.387C>A (p.Tyr129Ter) GRCh37: Chr9:21970971 GRCh38: Chr9:21970972	CDKN2A	Y78, Y129	Familial melanoma	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 214094335.	NM_000075.4(CDK4):c.354+14G>A GRCh37: Chr12:58144976 GRCh38: Chr12:57751193	CDK4		Familial melanoma	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 213979136.	NM_005981.5(TSPAN31):c.*2225A>T GRCh37: Chr12:58143298 GRCh38: Chr12:57749515	TSPAN31, CDK4		Familial melanoma	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 213674837.	NM_000077.5(CDKN2A):c.116A>G (p.Asn39Ser) GRCh37: Chr9:21974711 GRCh38: Chr9:21974712	CDKN2A	N39S	Familial melanoma	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213674738.	NM_000077.5(CDKN2A):c.164G>T (p.Gly55Val) GRCh37: Chr9:21971194 GRCh38: Chr9:21971195	CDKN2A	G4V, G55V	Familial melanoma	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 213674639.	NM_000077.5(CDKN2A):c.251A>T (p.Asp84Val) GRCh37: Chr9:21971107 GRCh38: Chr9:21971108	CDKN2A	D84V, D33V	Familial melanoma	Likely pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 213577740.	NM_000075.4(CDK4):c.889_903del (p.Lys297_Asn301del) GRCh37: Chr12:58142317-58142331 GRCh38: Chr12:57748534-57748548	TSPAN31, CDK4		Familial melanoma	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 213299741.	NM_000075.4(CDK4):c.82A>G (p.Ser28Gly) GRCh37: Chr12:58145419 GRCh38: Chr12:57751636	CDK4	S28G	Familial melanoma	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 213225442.	NM_000077.5(CDKN2A):c.156G>C (p.Met52Ile) GRCh37: Chr9:21971202 GRCh38: Chr9:21971203	CDKN2A	D67H, M1I, M52I	Hereditary cancer-predisposing syndrome, Familial melanoma	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213131243.	NM_000075.4(CDK4):c.566C>A (p.Ser189Tyr) GRCh37: Chr12:58144505 GRCh38: Chr12:57750722	CDK4	S189Y, D9Y	Familial melanoma	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 212971144.	NM_000077.5(CDKN2A):c.15G>A (p.Ala5=) GRCh37: Chr9:21974812 GRCh38: Chr9:21974813	CDKN2A		Familial melanoma	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 212874945.	NM_000075.4(CDK4):c.780G>C (p.Val260=) GRCh37: Chr12:58143004 GRCh38: Chr12:57749221	CDK4, TSPAN31		Familial melanoma	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 212724146.	NM_000075.4(CDK4):c.329C>G (p.Pro110Arg) GRCh37: Chr12:58145015 GRCh38: Chr12:57751232	CDK4	P110R	Familial melanoma	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 212710447.	NM_000077.5(CDKN2A):c.86G>A (p.Arg29Gln) GRCh37: Chr9:21974741 GRCh38: Chr9:21974742	CDKN2A	R29Q	Familial melanoma	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212251348.	NM_000077.5(CDKN2A):c.151-19A>C GRCh37: Chr9:21971226 GRCh38: Chr9:21971227	CDKN2A		Familial melanoma	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 212238549.	NM_000077.5(CDKN2A):c.175G>T (p.Val59Leu) GRCh37: Chr9:21971183 GRCh38: Chr9:21971184	CDKN2A	V59L, S73I, V8L	Familial melanoma	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212001350.	NM_005981.5(TSPAN31):c.*1340G>C GRCh37: Chr12:58142413 GRCh38: Chr12:57748630	TSPAN31, CDK4, MIR6759		Familial melanoma	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 211928351.	NM_005981.5(TSPAN31):c.*2146C>G GRCh37: Chr12:58143219 GRCh38: Chr12:57749436	CDK4, TSPAN31		Familial melanoma	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211917552.	NM_000075.4(CDK4):c.483G>A (p.Leu161=) GRCh37: Chr12:58144745 GRCh38: Chr12:57750962	CDK4		Familial melanoma	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211782753.	NM_005981.5(TSPAN31):c.1333_1334insC GRCh37: Chr12:58142406-58142407 GRCh38: Chr12:57748623-57748624	TSPAN31, CDK4, MIR6759		Familial melanoma	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 211576754.	NM_000075.4(CDK4):c.154A>G (p.Ser52Gly) GRCh37: Chr12:58145347 GRCh38: Chr12:57751564	CDK4, LOC130008148	S52G	Familial melanoma	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 211405355.	NM_000075.4(CDK4):c.160G>C (p.Val54Leu) GRCh37: Chr12:58145341 GRCh38: Chr12:57751558	CDK4, LOC130008148	V54L	Familial melanoma	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211288656.	NM_005981.5(TSPAN31):c.*2220G>T GRCh37: Chr12:58143293 GRCh38: Chr12:57749510	TSPAN31, CDK4		Familial melanoma	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 210992657.	NM_000077.5(CDKN2A):c.328T>C (p.Trp110Arg) GRCh37: Chr9:21971030 GRCh38: Chr9:21971031	CDKN2A	L124P, W110R, W59R	Familial melanoma	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 210901358.	NM_000075.4(CDK4):c.837C>T (p.Asn279=) GRCh37: Chr12:58142383 GRCh38: Chr12:57748600	CDK4, TSPAN31		Familial melanoma	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210837059.	NM_000075.4(CDK4):c.787G>A (p.Glu263Lys) GRCh37: Chr12:58142997 GRCh38: Chr12:57749214	TSPAN31, CDK4	E263K	Familial melanoma	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 210720560.	NM_000075.4(CDK4):c.500A>G (p.Tyr167Cys) GRCh37: Chr12:58144728 GRCh38: Chr12:57750945	CDK4	Y167C	Hereditary cancer-predisposing syndrome, Familial melanoma	Uncertain significance (May 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 210636661.	NM_000077.5(CDKN2A):c.286G>T (p.Val96Leu) GRCh37: Chr9:21971072 GRCh38: Chr9:21971073	CDKN2A	G110V, V96L, V45L	Familial melanoma	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 210503362.	NM_005981.5(TSPAN31):c.*2032G>T GRCh37: Chr12:58143105 GRCh38: Chr12:57749322	TSPAN31, CDK4		Familial melanoma	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210377963.	NM_000075.4(CDK4):c.530C>T (p.Thr177Ile) GRCh37: Chr12:58144541 GRCh38: Chr12:57750758	CDK4	T177I, V21I	Familial melanoma	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 209953064.	NM_000075.4(CDK4):c.544G>T (p.Ala182Ser) GRCh37: Chr12:58144527 GRCh38: Chr12:57750744	CDK4	A16D, A182S	Familial melanoma	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 209580165.	NM_000077.5(CDKN2A):c.268T>C (p.Phe90Leu) GRCh37: Chr9:21971090 GRCh38: Chr9:21971091	CDKN2A	F90L, L104P, F39L	Familial melanoma	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 209452466.	NM_000077.5(CDKN2A):c.448G>T (p.Gly150Cys) GRCh37: Chr9:21970910 GRCh38: Chr9:21970911	CDKN2A	G99C, G150C	Hereditary cancer-predisposing syndrome, Familial melanoma	Uncertain significance (Jul 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 208949767.	NM_000075.4(CDK4):c.653C>T (p.Ser218Phe) GRCh37: Chr12:58143267 GRCh38: Chr12:57749484	TSPAN31, CDK4	S218F	Familial melanoma	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208918468.	NM_000075.4(CDK4):c.406A>G (p.Ile136Val) GRCh37: Chr12:58144822 GRCh38: Chr12:57751039	CDK4	I136V	Familial melanoma	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 208796069.	NM_000077.5(CDKN2A):c.265G>T (p.Gly89Cys) GRCh37: Chr9:21971093 GRCh38: Chr9:21971094	CDKN2A	G38C, G89C, G103V	Familial melanoma	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 208748370.	NM_000075.4(CDK4):c.351C>A (p.Ile117=) GRCh37: Chr12:58144993 GRCh38: Chr12:57751210	CDK4		Familial melanoma	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 208417571.	NM_000077.5(CDKN2A):c.470G>T (p.Ter157Leu) GRCh37: Chr9:21968229 GRCh38: Chr9:21968230	CDKN2A		Familial melanoma	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208359072.	NM_000077.5(CDKN2A):c.173G>A (p.Arg58Gln) GRCh37: Chr9:21971185 GRCh38: Chr9:21971186	CDKN2A	R7Q, R58Q	Familial melanoma	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 207858573.	NM_000075.4(CDK4):c.149C>T (p.Pro50Leu) GRCh37: Chr12:58145352 GRCh38: Chr12:57751569	CDK4, LOC130008148	P50L	Familial melanoma	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 206788074.	NM_000075.4(CDK4):c.880T>C (p.Tyr294His) GRCh37: Chr12:58142340 GRCh38: Chr12:57748557	CDK4, TSPAN31	Y294H	Familial melanoma	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 206703375.	NM_000077.5(CDKN2A):c.458-5T>C GRCh37: Chr9:21968246 GRCh38: Chr9:21968247	CDKN2A		Familial melanoma	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 206666476.	NM_005981.5(TSPAN31):c.*2038C>T GRCh37: Chr12:58143111 GRCh38: Chr12:57749328	CDK4, TSPAN31		Familial melanoma	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 206167377.	NM_000075.4(CDK4):c.298C>T (p.Leu100=) GRCh37: Chr12:58145046 GRCh38: Chr12:57751263	CDK4		Familial melanoma	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 206001278.	NM_000077.5(CDKN2A):c.303_304insC (p.Ala102fs) GRCh37: Chr9:21971054-21971055 GRCh38: Chr9:21971055-21971056	CDKN2A	A51fs, A102fs, G116fs	Familial melanoma	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 205942079.	NM_000075.4(CDK4):c.215T>C (p.Val72Ala) GRCh37: Chr12:58145286 GRCh38: Chr12:57751503	CDK4, LOC130008148	V72A	Familial melanoma	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205936580.	NM_000077.5(CDKN2A):c.226G>T (p.Ala76Ser) GRCh37: Chr9:21971132 GRCh38: Chr9:21971133	CDKN2A	A76S, A25S, R90L	Familial melanoma	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 205701881.	NM_000075.4(CDK4):c.701C>A (p.Pro234Gln) GRCh37: Chr12:58143083 GRCh38: Chr12:57749300	CDK4, TSPAN31	P234Q	Familial melanoma	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 204122582.	NM_000075.4(CDK4):c.283C>T (p.His95Tyr) GRCh37: Chr12:58145061 GRCh38: Chr12:57751278	CDK4	H95Y	Familial melanoma	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 204122083.	NM_005981.5(TSPAN31):c.*2033G>A GRCh37: Chr12:58143106 GRCh38: Chr12:57749323	CDK4, TSPAN31		Familial melanoma	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 203968984.	NM_000077.5(CDKN2A):c.458-3C>A GRCh37: Chr9:21968244 GRCh38: Chr9:21968245	CDKN2A		Familial melanoma	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 203752885.	NM_000075.4(CDK4):c.201G>A (p.Glu67=) GRCh37: Chr12:58145300 GRCh38: Chr12:57751517	CDK4, LOC130008148		Familial melanoma	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 203515986.	NM_005981.5(TSPAN31):c.*2152T>C GRCh37: Chr12:58143225 GRCh38: Chr12:57749442	TSPAN31, CDK4		Familial melanoma	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 203116687.	NM_000075.4(CDK4):c.550G>T (p.Glu184Ter) GRCh37: Chr12:58144521 GRCh38: Chr12:57750738	CDK4	E184, S14	Familial melanoma	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 203014988.	NM_000077.5(CDKN2A):c.274G>C (p.Asp92His) GRCh37: Chr9:21971084 GRCh38: Chr9:21971085	CDKN2A	D41H, D92H, G106A	Familial melanoma	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 203014389.	NM_000077.5(CDKN2A):c.380C>T (p.Ala127Val) GRCh37: Chr9:21970978 GRCh38: Chr9:21970979	CDKN2A	A127V, A76V	Familial melanoma	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 202820490.	NM_000075.4(CDK4):c.855T>G (p.Ser285=) GRCh37: Chr12:58142365 GRCh38: Chr12:57748582	CDK4, TSPAN31		Familial melanoma	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 202335291.	NM_000077.5(CDKN2A):c.86G>T (p.Arg29Leu) GRCh37: Chr9:21974741 GRCh38: Chr9:21974742	CDKN2A	R29L	Familial melanoma	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 201969292.	NM_000075.4(CDK4):c.354+17G>C GRCh37: Chr12:58144973 GRCh38: Chr12:57751190	CDK4		Familial melanoma	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 201802193.	NM_000077.5(CDKN2A):c.432C>G (p.Arg144=) GRCh37: Chr9:21970926 GRCh38: Chr9:21970927	CDKN2A		Familial melanoma	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 201750594.	NM_005981.5(TSPAN31):c.*1341C>T GRCh37: Chr12:58142414 GRCh38: Chr12:57748631	CDK4, MIR6759, TSPAN31		Familial melanoma	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 201386295.	NM_000077.5(CDKN2A):c.343G>C (p.Val115Leu) GRCh37: Chr9:21971015 GRCh38: Chr9:21971016	CDKN2A	R129P, V64L, V115L	Familial melanoma	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201238496.	NM_000075.4(CDK4):c.430G>A (p.Glu144Lys) GRCh37: Chr12:58144798 GRCh38: Chr12:57751015	CDK4	E144K	Familial melanoma	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 201207697.	NM_000077.5(CDKN2A):c.438T>G (p.Asp146Glu) GRCh37: Chr9:21970920 GRCh38: Chr9:21970921	CDKN2A	D146E, D95E	Familial melanoma	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 200780998.	NM_000075.4(CDK4):c.515C>G (p.Thr172Arg) GRCh37: Chr12:58144713 GRCh38: Chr12:57750930	CDK4	T172R, V26L	Familial melanoma	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 200598999.	NM_000077.5(CDKN2A):c.98A>G (p.Glu33Gly) GRCh37: Chr9:21974729 GRCh38: Chr9:21974730	CDKN2A	E33G	Familial melanoma	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 2005640100.	NM_000075.4(CDK4):c.642C>G (p.Phe214Leu) GRCh37: Chr12:58143278 GRCh38: Chr12:57749495	CDK4, TSPAN31	F214L	Familial melanoma	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter

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