2260[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +286 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	LOC126860374, LOC126860375 +417 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 150494	GRCh38/hg38 8p11.23-11.22(chr8:38046362-39172253)x1	ADAM32, ADAM9 +79 more	Copy number loss	See cases	GPathogenic
Select item 145616	GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1	ADAM18, ADAM2 +98 more	Copy number loss	See cases	GPathogenic
Select item 60360	GRCh38/hg38 8p11.23-11.21(chr8:38342177-40546982)x1	ADAM18, ADAM2 +81 more	Copy number loss	See cases	GPathogenic
Select item 908500	NM_023110.3(FGFR1):c.*2445A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362854	NM_023110.3(FGFR1):c.*2434C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 909349	NM_023110.3(FGFR1):c.*2408C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362855	NM_023110.3(FGFR1):c.*2407C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 362856	NM_023110.3(FGFR1):c.*2391A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362857	NM_023110.3(FGFR1):c.*2188T>C	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 362858	NM_023110.3(FGFR1):c.*2104del	FGFR1, LOC102723716	Deletion (3 prime UTR variant)	Interfrontal craniofaciosynostosis +4 more	GLikely benign
Select item 362859	NM_023110.3(FGFR1):c.*2099T>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362860	NM_023110.3(FGFR1):c.*2057C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 908569	NM_023110.3(FGFR1):c.*1982A>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 362861	NM_023110.3(FGFR1):c.*1965G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909426	NM_023110.3(FGFR1):c.*1823G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362862	NM_023110.3(FGFR1):c.*1822A>C	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GLikely benign
Select item 362863	NM_023110.3(FGFR1):c.*1770G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 911588	NM_023110.3(FGFR1):c.*1723C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 908638	NM_023110.3(FGFR1):c.*1711G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908639	NM_023110.3(FGFR1):c.*1676G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362864	NM_023110.3(FGFR1):c.*1632A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362865	NM_023110.3(FGFR1):c.*1616T>G	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362866	NM_023110.3(FGFR1):c.*1560C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 362867	NM_023110.3(FGFR1):c.*1498C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign
Select item 910427	NM_023110.3(FGFR1):c.*1446A>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362868	NM_023110.3(FGFR1):c.*1439T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Osteoglophonic dysplasia +3 more	GBenign/Likely benign
Select item 362869	NM_023110.3(FGFR1):c.*1286C>T	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 362870	NM_023110.3(FGFR1):c.*1218T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362871	NM_023110.3(FGFR1):c.*1211G>T	FGFR1, LOC102723716 (G822V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +5 more	GBenign/Likely benign
Select item 909558	NM_023110.3(FGFR1):c.*1149G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362872	NM_023110.3(FGFR1):c.*1144G>A	LOC102723716, FGFR1 (A711T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910485	NM_023110.3(FGFR1):c.*1124C>G	FGFR1, LOC102723716 (P704R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 2498226	NM_023110.3(FGFR1):c.*1111C>T	FGFR1, LOC102723716 (R700* +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 910486	NM_023110.3(FGFR1):c.*1086A>T	FGFR1, LOC102723716 (K691N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 2633404	NM_023110.3(FGFR1):c.*1069C>T	FGFR1, LOC102723716 (L686F +2 more)	Single nucleotide variant (missense variant +2 more)	FGFR1-related condition	GUncertain significance
Select item 3036215	NM_023110.3(FGFR1):c.1048_1055del	FGFR1, LOC102723716 (L679fs +2 more)	Deletion (non-coding transcript variant +2 more)	FGFR1-related condition	GUncertain significance
Select item 911717	NM_023110.3(FGFR1):c.*1055C>T	FGFR1, LOC102723716 (T770M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362873	NM_023110.3(FGFR1):c.*1052C>T	FGFR1, LOC102723716 (T767M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GBenign/Likely benign
Select item 2658544	NM_023110.3(FGFR1):c.*1046A>G	FGFR1, LOC102723716 (D678G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 362874	NM_023110.3(FGFR1):c.*1026T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 908760	NM_023110.3(FGFR1):c.*994T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GBenign
Select item 909616	NM_023110.3(FGFR1):c.*991G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362875	NM_023110.3(FGFR1):c.*963C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362876	NM_023110.3(FGFR1):c.*958G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 910547	NM_023110.3(FGFR1):c.*957C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 911789	NM_023110.3(FGFR1):c.*928G>A	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362877	NM_023110.3(FGFR1):c.*913G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362878	NM_023110.3(FGFR1):c.*906A>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GBenign/Likely benign
Select item 362879	NM_023110.3(FGFR1):c.*845T>C	FGFR1, LOC102723716	Single nucleotide variant (intron variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909678	NM_023110.3(FGFR1):c.*819T>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909679	NM_023110.3(FGFR1):c.*802C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362880	NM_023110.3(FGFR1):c.*762A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362881	NM_023110.3(FGFR1):c.*723G>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GBenign
Select item 362882	NM_023110.3(FGFR1):c.*569C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 362883	NM_023110.3(FGFR1):c.*494A>G	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 908881	NM_023110.3(FGFR1):c.*391C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908882	NM_023110.3(FGFR1):c.*345T>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362885	NM_023110.3(FGFR1):c.*313T>C	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362884	NM_023110.3(FGFR1):c.*313T>G	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910659	NM_023110.3(FGFR1):c.*262C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910660	NM_023110.3(FGFR1):c.*252G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 911892	NM_023110.3(FGFR1):c.*231C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 2658545	NM_023110.3(FGFR1):c.*220T>C	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 908948	NM_023110.3(FGFR1):c.*212G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 908949	NM_023110.3(FGFR1):c.*203G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 362886	NM_023110.3(FGFR1):c.*118C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362887	NM_023110.3(FGFR1):c.*113G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GBenign
Select item 909809	NM_023110.3(FGFR1):c.*112C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +7 more	GUncertain significance
Select item 362888	NM_023110.3(FGFR1):c.*71A>G	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 362889	NM_023110.3(FGFR1):c.*70C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 1231552	NM_023110.3(FGFR1):c.*66G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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