ClinVar for MedGen (Select 14150) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25822891.	NM_004448.4(ERBB2):c.1958C>T (p.Ser653Phe) GRCh37: Chr17:37879583 GRCh38: Chr17:39723330	ERBB2	S377F, S567F, S593F, S623F, S637F, S638F, S650F, S652F, S653F, S660F, S663F, S678F, S687F, S692F	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 25822882.	NM_004448.4(ERBB2):c.925G>A (p.Gly309Arg) GRCh37: Chr17:37868204 GRCh38: Chr17:39711951	ERBB2	G223R, G249R, G279R, G294R, G306R, G309R, G334R, G33R	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 25822873.	NM_001982.4(ERBB3):c.180G>A (p.Met60Ile) GRCh37: Chr12:56477632 GRCh38: Chr12:56083848	ERBB3	M60I	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 25822864.	NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter) GRCh37: Chr11:108170565 GRCh38: Chr11:108299838	ATM	W1710*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 25822855.	NM_000389.5(CDKN1A):c.142C>T (p.Arg48Ter) GRCh37: Chr6:36652020 GRCh38: Chr6:36684243	CDKN1A	R48, R61, R82*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 25822846.	NM_000051.4(ATM):c.1681C>T (p.Gln561Ter) GRCh37: Chr11:108122637 GRCh38: Chr11:108251910	ATM	Q561*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 25822837.	NM_000314.8(PTEN):c.493-3C>T GRCh37: Chr10:89711872 GRCh38: Chr10:87952115	PTEN		Malignant tumor of urinary bladder	Uncertain significance	no assertion criteria provided
Select item 25822828.	NM_000368.5(TSC1):c.556del (p.Ala186fs) GRCh37: Chr9:135797313 GRCh38: Chr9:132921926	TSC1	A135fs, A186fs, A65fs	Malignant tumor of urinary bladder	Uncertain significance	no assertion criteria provided
Select item 25822819.	NM_005228.5(EGFR):c.2287G>A (p.Ala763Thr) GRCh37: Chr7:55248989 GRCh38: Chr7:55181296	EGFR, EGFR-AS1	A496T, A710T, A718T, A763T	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258228010.	NM_005228.5(EGFR):c.1786C>T (p.Pro596Ser) GRCh37: Chr7:55233036 GRCh38: Chr7:55165343	EGFR	P329S, P543S, P551S, P596S	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258227911.	NM_000389.5(CDKN1A):c.195_196delinsAA (p.Trp65_Glu66delinsTer) GRCh37: Chr6:36652073-36652074 GRCh38: Chr6:36684296-36684297	CDKN1A		Malignant tumor of urinary bladder	Uncertain significance	no assertion criteria provided
Select item 258227812.	NM_000142.5(FGFR3):c.2089G>A (p.Gly697Ser) GRCh37: Chr4:1808331 GRCh38: Chr4:1806604	FGFR3	G585S, G697S, G698S, G699S, R674Q	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258227713.	NM_000142.5(FGFR3):c.1910G>A (p.Gly637Glu) GRCh37: Chr4:1807851 GRCh38: Chr4:1806124	FGFR3	G525E, G637E, G638E, G639E	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258227614.	NM_006015.6(ARID1A):c.3105dup (p.Met1036fs) GRCh37: Chr1:27094395-27094396 GRCh38: Chr1:26767904-26767905	ARID1A	M1036fs	Malignant tumor of urinary bladder	Uncertain significance	no assertion criteria provided
Select item 258227515.	NM_000142.5(FGFR3):c.1196G>A (p.Arg399His) GRCh37: Chr4:1806177 GRCh38: Chr4:1804450	FGFR3	R399H, R401H	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258227416.	NM_006218.4(PIK3CA):c.3120G>A (p.Met1040Ile) GRCh37: Chr3:178952065 GRCh38: Chr3:179234277	PIK3CA	M1040I	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258227317.	NM_006015.6(ARID1A):c.5919G>A (p.Trp1973Ter) GRCh37: Chr1:27106308 GRCh38: Chr1:26779817	ARID1A	W1756, W1973	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258227218.	NM_006015.6(ARID1A):c.5058G>A (p.Trp1686Ter) GRCh37: Chr1:27102132 GRCh38: Chr1:26775641	ARID1A	W1469, W1686	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258227119.	NM_006015.6(ARID1A):c.4891C>T (p.Gln1631Ter) GRCh37: Chr1:27101609 GRCh38: Chr1:26775118	ARID1A	Q1414, Q1631	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258227020.	NM_006015.6(ARID1A):c.4435C>T (p.Gln1479Ter) GRCh37: Chr1:27101153 GRCh38: Chr1:26774662	ARID1A	Q1479*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226921.	NM_006015.6(ARID1A):c.4258C>T (p.Gln1420Ter) GRCh37: Chr1:27100976 GRCh38: Chr1:26774485	ARID1A	Q1420*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226822.	NM_006015.6(ARID1A):c.4072C>T (p.Gln1358Ter) GRCh37: Chr1:27100360 GRCh38: Chr1:26773869	ARID1A	Q1358*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226723.	NM_000321.3(RB1):c.13del (p.Thr5fs) GRCh37: Chr13:48878058 GRCh38: Chr13:48303922	RB1	T5fs	Retinoblastoma	Pathogenic (Nov 15, 2023)	criteria provided, single submitter
Select item 258226624.	NM_006015.6(ARID1A):c.2683C>T (p.Gln895Ter) GRCh37: Chr1:27089727 GRCh38: Chr1:26763236	ARID1A	Q895*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226525.	NM_006015.6(ARID1A):c.2323C>T (p.Gln775Ter) GRCh37: Chr1:27088714 GRCh38: Chr1:26762223	ARID1A	Q775*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226426.	NM_006015.6(ARID1A):c.2272C>T (p.Gln758Ter) GRCh37: Chr1:27088663 GRCh38: Chr1:26762172	ARID1A	Q758*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226327.	NM_006015.6(ARID1A):c.2008C>T (p.Gln670Ter) GRCh37: Chr1:27087434 GRCh38: Chr1:26760943	ARID1A	Q670*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226228.	NM_006015.6(ARID1A):c.1585C>T (p.Gln529Ter) GRCh37: Chr1:27057877 GRCh38: Chr1:26731386	ARID1A	Q529*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226129.	NM_006015.6(ARID1A):c.1210C>T (p.Gln404Ter) GRCh37: Chr1:27056214 GRCh38: Chr1:26729723	ARID1A	Q404*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258226030.	NM_006015.6(ARID1A):c.6144G>A (p.Trp2048Ter) GRCh37: Chr1:27106533 GRCh38: Chr1:26780042	ARID1A	W1831, W2048	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225931.	NM_000368.5(TSC1):c.589del (p.Cys197fs) GRCh37: Chr9:135797280 GRCh38: Chr9:132921893	TSC1	C146fs, C197fs, C76fs	Malignant tumor of urinary bladder	Uncertain significance	no assertion criteria provided
Select item 258225832.	NM_005228.5(EGFR):c.2561C>T (p.Thr854Ile) GRCh37: Chr7:55259503 GRCh38: Chr7:55191810	EGFR	T587I, T801I, T809I, T854I	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225733.	NM_005228.5(EGFR):c.1792G>A (p.Gly598Arg) GRCh37: Chr7:55233042 GRCh38: Chr7:55165349	EGFR	G331R, G545R, G553R, G598R	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225634.	NM_006015.6(ARID1A):c.5566C>T (p.Gln1856Ter) GRCh37: Chr1:27105955 GRCh38: Chr1:26779464	ARID1A	Q1639, Q1856	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225535.	NM_001291415.2(KDM6A):c.3790C>T (p.Gln1264Ter) GRCh37: ChrX:44949073 GRCh38: ChrX:45089828	KDM6A	Q1133, Q1167, Q1178, Q1212, Q1219, Q1230, Q1264, Q916	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225436.	NM_001291415.2(KDM6A):c.3653G>A (p.Trp1218Ter) GRCh37: ChrX:44945173 GRCh38: ChrX:45085928	KDM6A	W1087, W1121, W1132, W1166, W1173, W1184, W1218, W870	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225337.	NM_001291415.2(KDM6A):c.1303C>T (p.Gln435Ter) GRCh37: ChrX:44919375 GRCh38: ChrX:45060130	KDM6A	Q435*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225238.	NM_001291415.2(KDM6A):c.1228C>T (p.Gln410Ter) GRCh37: ChrX:44919300 GRCh38: ChrX:45060055	KDM6A	Q410*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225139.	NM_000400.4(ERCC2):c.1627C>T (p.Gln543Ter) GRCh37: Chr19:45858026 GRCh38: Chr19:45354768	ERCC2	Q543*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258225040.	NM_006015.6(ARID1A):c.2632C>T (p.Gln878Ter) GRCh37: Chr1:27089676 GRCh38: Chr1:26763185	ARID1A	Q878*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224941.	NM_000059.4(BRCA2):c.8755-3C>T GRCh37: Chr13:32953451 GRCh38: Chr13:32379314	BRCA2		Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224842.	NM_000400.4(ERCC2):c.799C>T (p.Gln267Ter) GRCh37: Chr19:45867509 GRCh38: Chr19:45364251	ERCC2	Q243, Q267	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224743.	NM_001982.4(ERBB3):c.2782G>A (p.Glu928Lys) GRCh37: Chr12:56492632 GRCh38: Chr12:56098848	ERBB3	E928K	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224644.	NM_001982.4(ERBB3):c.307C>T (p.Arg103Cys) GRCh37: Chr12:56478851 GRCh38: Chr12:56085067	ERBB3	R103C	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224545.	NM_000051.4(ATM):c.8306G>A (p.Trp2769Ter) GRCh37: Chr11:108213986 GRCh38: Chr11:108343259	ATM, C11orf65	W2769*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224446.	NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter) GRCh37: Chr11:108196876 GRCh38: Chr11:108326149	ATM, C11orf65	W2300*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224347.	NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter) GRCh37: Chr11:108170564 GRCh38: Chr11:108299837	ATM	W1710*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224248.	NM_006015.6(ARID1A):c.4372C>T (p.Gln1458Ter) GRCh37: Chr1:27101090 GRCh38: Chr1:26774599	ARID1A	Q1458*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224149.	NM_006015.6(ARID1A):c.3988C>T (p.Gln1330Ter) GRCh37: Chr1:27100192 GRCh38: Chr1:26773701	ARID1A	Q1330*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258224050.	NM_006015.6(ARID1A):c.2434C>T (p.Gln812Ter) GRCh37: Chr1:27089478 GRCh38: Chr1:26762987	ARID1A	Q812*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258223951.	NM_006015.6(ARID1A):c.1813C>T (p.Gln605Ter) GRCh37: Chr1:27059176 GRCh38: Chr1:26732685	ARID1A	Q605*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258223852.	NM_006015.6(ARID1A):c.511C>T (p.Gln171Ter) GRCh37: Chr1:27023405 GRCh38: Chr1:26696914	ARID1A	Q171*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258223753.	NM_001291415.2(KDM6A):c.1987C>T (p.Gln663Ter) GRCh37: ChrX:44922970 GRCh38: ChrX:45063725	KDM6A	Q315, Q532, Q566, Q577, Q611, Q618, Q629, Q663	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258223654.	NM_001291415.2(KDM6A):c.1627C>T (p.Gln543Ter) GRCh37: ChrX:44921937 GRCh38: ChrX:45062692	KDM6A	Q195, Q446, Q491, Q498, Q543*	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258223555.	NM_001291415.2(KDM6A):c.985C>T (p.Gln329Ter) GRCh37: ChrX:44918502 GRCh38: ChrX:45059257	KDM6A	Q329, Q78	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258223456.	NM_000400.4(ERCC2):c.439C>T (p.Gln147Ter) GRCh37: Chr19:45868338 GRCh38: Chr19:45365080	ERCC2	Q123, Q147	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258223357.	NM_004448.4(ERBB2):c.2515G>A (p.Val839Met) GRCh37: Chr17:37881323 GRCh38: Chr17:39725070	ERBB2	V493M, V563M, V753M, V777M, V779M, V806M, V809M, V823M, V824M, V825M, V827M, V836M, V838M, V839M, V846M, V849M, V864M, V866M, V873M, V878M	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 258223258.	NM_004448.4(ERBB2):c.2089G>A (p.Val697Met) GRCh37: Chr17:37879794 GRCh38: Chr17:39723541	ERBB2	V421M, V611M, V637M, V667M, V681M, V682M, V694M, V696M, V697M, V704M, V707M, V722M, V731M, V736M	Malignant tumor of urinary bladder	Pathogenic	no assertion criteria provided
Select item 213795959.	NM_001042492.3(NF1):c.1274G>A (p.Trp425Ter) GRCh37: Chr17:29533271 GRCh38: Chr17:31206253	NF1	W425*	Neurofibromatosis, type 1	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 212467160.	NM_000059.4(BRCA2):c.10081C>T (p.Gln3361Ter) GRCh37: Chr13:32972731 GRCh38: Chr13:32398594	BRCA2	Q1222, Q3344, Q3361, Q1717, Q3329*	Hereditary breast ovarian cancer syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 210620661.	NM_000051.4(ATM):c.9155G>A (p.Trp3052Ter) GRCh37: Chr11:108236219 GRCh38: Chr11:108365492	ATM, C11orf65	W3052*	Ataxia-telangiectasia syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 203993862.	NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter) GRCh37: Chr11:108143468 GRCh38: Chr11:108272741	ATM	W1058*	Ataxia-telangiectasia syndrome	Pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 191284663.	NM_001042492.3(NF1):c.3652C>T (p.Gln1218Ter) GRCh37: Chr17:29560175 GRCh38: Chr17:31233157	NF1	Q1218*	Neurofibromatosis, type 1, not provided	Pathogenic (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 170064964.	NM_013266.4(CTNNA3):c.2568del (p.Lys856fs) GRCh37: Chr10:67680208 GRCh38: Chr10:65920450	CTNNA3	K856fs	Malignant tumor of urinary bladder	Likely pathogenic	no assertion criteria provided
Select item 169135565.	NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) GRCh37: Chr4:1807549 GRCh38: Chr4:1805822	FGFR3	P461L, P573L, P574L, P575L	Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis, not provided, ...see more	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168612166.	NM_000321.3(RB1):c.1970dup (p.Ala658fs) GRCh37: Chr13:49033832-49033833 GRCh38: Chr13:48459696-48459697	RB1	A658fs	Malignant tumor of urinary bladder	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168542267.	NM_000321.3(RB1):c.2490-1530_*109del GRCh37: Chr13:49045964-49054314 GRCh38: Chr13:48471828-48480178	RB1		Malignant tumor of urinary bladder	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168542168.	NM_000321.3(RB1):c.381-2A>T GRCh37: Chr13:48919214 GRCh38: Chr13:48345078	RB1		Malignant tumor of urinary bladder	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168428569.	NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) GRCh37: Chr4:1801055 GRCh38: Chr4:1799328	FGFR3	P62S	FGFR3-related disoder, Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Epidermal nevusMalignant tumor of urinary bladder, Hypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis, ...see more	Uncertain significance (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168011570.	NM_000142.5(FGFR3):c.1959+15G>C GRCh37: Chr4:1807915 GRCh38: Chr4:1806188	FGFR3		Epidermal nevus, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Cervix cancer, Levy-Hollister syndrome, Malignant tumor of urinary bladder, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndromeHypochondroplasia, Germ cell tumor of testis, Colorectal cancer, not provided, ...see more	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168011171.	NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) GRCh37: Chr4:1807887 GRCh38: Chr4:1806160	FGFR3	K537R, K649R, K650R, K651R	Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis, not provided, ...see more	Uncertain significance (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168010672.	NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) GRCh37: Chr4:1807658 GRCh38: Chr4:1805931	FGFR3		Connective tissue disorder, Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Epidermal nevusMalignant tumor of urinary bladder, Hypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis, not provided, ...see more	Conflicting interpretations of pathogenicity (Apr 14, 2022)	criteria provided, conflicting interpretations
Select item 168006573.	NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) GRCh37: Chr4:1806551 GRCh38: Chr4:1804824	FGFR3	V311L, V423L, V424L, V425L	Cervix cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, Thanatophoric dysplasia, type 2, Crouzon syndrome-acanthosis nigricans syndrome, Muenke syndrome, Colorectal cancer, Achondroplasia, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Thanatophoric dysplasia type 1, Epidermal nevus, Malignant tumor of urinary bladderHypochondroplasia, Levy-Hollister syndrome, Germ cell tumor of testis, Inborn genetic diseases, not provided, ...see more	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149481674.	NM_005228.5(EGFR):c.2404G>A (p.Val802Ile) GRCh37: Chr7:55249106 GRCh38: Chr7:55181413	EGFR, EGFR-AS1	V757I, V749I, V535I, V802I	EGFR-related lung cancer	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 145601575.	NM_000321.3(RB1):c.234G>A (p.Trp78Ter) GRCh37: Chr13:48881512 GRCh38: Chr13:48307376	RB1	W78*	Retinoblastoma	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 142707276.	NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter) GRCh37: Chr11:108199853 GRCh38: Chr11:108329126	ATM, C11orf65	Q2399*	Ataxia-telangiectasia syndrome	Pathogenic (Mar 2, 2021)	criteria provided, single submitter
Select item 140407077.	NM_005228.5(EGFR):c.2587G>A (p.Gly863Ser) GRCh37: Chr7:55259529 GRCh38: Chr7:55191836	EGFR	G810S, G863S, G596S, G818S	EGFR-related lung cancer	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 135422278.	NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter) GRCh37: Chr11:108224507 GRCh38: Chr11:108353780	ATM, C11orf65	Q2896*	Ataxia-telangiectasia syndrome	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 135283079.	NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter) GRCh37: Chr11:108178665 GRCh38: Chr11:108307938	ATM	Q1906*	Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome	Pathogenic (Mar 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133352980.	NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter) GRCh37: Chr17:29653169 GRCh38: Chr17:31326151	NF1	Q1702, Q1723	Neurofibromatosis, type 1	Pathogenic (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131064681.	NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) GRCh37: Chr4:1807298 GRCh38: Chr4:1805571	FGFR3	D404G, D516G, D517G, D518G	Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer, Malignant tumor of urinary bladder, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Germ cell tumor of testis, Levy-Hollister syndrome, Muenke syndrome, HypochondroplasiaEpidermal nevus, Colorectal cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, not provided, ...see more	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130995182.	NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) GRCh37: Chr4:1806236 GRCh38: Chr4:1804509	FGFR3	L419F, L421F	not provided, Achondroplasia, Crouzon syndrome-acanthosis nigricans syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Cervix cancer, Malignant tumor of urinary bladder, Thanatophoric dysplasia type 1, Thanatophoric dysplasia, type 2, Germ cell tumor of testis, Levy-Hollister syndrome, Muenke syndromeHypochondroplasia, Epidermal nevus, Colorectal cancer, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome, ...see more	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 129938883.	NM_198253.3(TERT):c.-124C>T GRCh37: Chr5:1295228 GRCh38: Chr5:1295113	LOC110806263, TERT		not provided	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 107627584.	NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter) GRCh37: Chr9:135786842 GRCh38: Chr9:132911455	TSC1	Q222, Q292, Q343*	Tuberous sclerosis 1	Pathogenic (Oct 12, 2021)	criteria provided, single submitter
Select item 107540585.	NM_001042492.3(NF1):c.1682G>A (p.Trp561Ter) GRCh37: Chr17:29548908 GRCh38: Chr17:31221890	NF1	W561*	Neurofibromatosis, type 1	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 105467986.	NM_007294.4(BRCA1):c.4357+3G>A GRCh37: Chr17:41234418 GRCh38: Chr17:43082401	BRCA1		Hereditary breast ovarian cancer syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104874887.	NM_001042492.3(NF1):c.385C>T (p.Gln129Ter) GRCh37: Chr17:29490300 GRCh38: Chr17:31163282	NF1	Q129*	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, type 1	Pathogenic (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104613988.	NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) GRCh37: Chr12:25378609-25378610 GRCh38: Chr12:25225675-25225676	KRAS	A130I	RASopathy, Familial cancer of breast, Noonan syndrome 3, Carcinoma of pancreas, Stomach cancer, Cardiofaciocutaneous syndrome 2, Linear nevus sebaceous syndrome, Autoimmune lymphoproliferative syndrome type 4, Toriello-Lacassie-Droste syndrome, Cerebral arteriovenous malformation, Malignant tumor of urinary bladderAcute myeloid leukemia, Lung cancer, ...see more	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94799689.	NM_000051.4(ATM):c.9156G>A (p.Trp3052Ter) GRCh37: Chr11:108236220 GRCh38: Chr11:108365493	ATM, C11orf65	W3052*	Ataxia-telangiectasia syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 92289390.	NM_000546.6(TP53):c.991C>T (p.Gln331Ter) GRCh37: Chr17:7576855 GRCh38: Chr17:7673537	TP53	Q199, Q331, Q292, Q172	Hereditary cancer-predisposing syndrome	Pathogenic (May 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 85436691.	NM_000321.3(RB1):c.352A>T (p.Thr118Ser) GRCh37: Chr13:48916822 GRCh38: Chr13:48342686	RB1	T118S	Retinoblastoma, Bone osteosarcoma, Malignant tumor of urinary bladder, Small cell lung carcinoma, Retinoblastoma, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85042692.	NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) GRCh37: Chr11:532715 GRCh38: Chr11:532715	HRAS, LRRC56	R164P, R85P	Costello syndrome, Malignant tumor of urinary bladder, Linear nevus sebaceous syndrome, Costello syndrome, Thyroid cancer, nonmedullary, 2, Large congenital melanocytic nevus, Epidermal nevus	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84708093.	NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter) GRCh37: Chr11:108236176 GRCh38: Chr11:108365449	ATM, C11orf65	Q3038*	Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 83590394.	NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) GRCh37: Chr11:533493 GRCh38: Chr11:533493	HRAS, LRRC56	T31P, Y137S	Linear nevus sebaceous syndrome, Thyroid cancer, nonmedullary, 2, Epidermal nevus, Large congenital melanocytic nevus, Malignant tumor of urinary bladder, Costello syndrome, Cardiovascular phenotype, Costello syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82523695.	NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) GRCh37: Chr13:48919320 GRCh38: Chr13:48345184	RB1	F162Y	Hereditary cancer-predisposing syndrome, Malignant tumor of urinary bladder, Small cell lung carcinoma, Retinoblastoma, Bone osteosarcoma, Retinoblastoma	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81755396.	NM_000400.4(ERCC2):c.567G>A (p.Trp189Ter) GRCh37: Chr19:45868123 GRCh38: Chr19:45364865	ERCC2	W165, W189	not provided	Pathogenic (Mar 22, 2019)	criteria provided, single submitter
Select item 69201097.	NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) GRCh37: ChrX:44879904 GRCh38: ChrX:45020659	KDM6A	R165*	not provided, Kabuki syndrome 2	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66740098.	NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter) GRCh37: Chr13:32972434 GRCh38: Chr13:32398297	BRCA2	Q3262*	Hereditary breast ovarian cancer syndrome	Likely pathogenic (Oct 21, 2018)	criteria provided, single submitter
Select item 66471699.	NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) GRCh37: Chr13:48953773 GRCh38: Chr13:48379637	RB1	S459F	Bone osteosarcoma, Retinoblastoma, Malignant tumor of urinary bladder, Small cell lung carcinoma, Retinoblastoma, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 662690100.	NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) GRCh37: Chr17:7573988 GRCh38: Chr17:7670670	TP53	A347T, A188T, A215T, A308T	Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome, Familial cancer of breast	Conflicting interpretations of pathogenicity (Nov 8, 2023)	criteria provided, conflicting interpretations

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