392255[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	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 60388	GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1	CPQ, GDF6 +22 more	Copy number loss	See cases	GPathogenic
Select item 369618	NM_001001557.3(GDF6):c.*2243G>C	GDF6	Single nucleotide variant	Klippel-Feil syndrome	GLikely benign
Select item 364005	NM_001001557.4(GDF6):c.*2216C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 912481	NM_001001557.4(GDF6):c.*2215G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364006	NM_001001557.4(GDF6):c.*2214C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364007	NM_001001557.4(GDF6):c.*2195C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 913595	NM_001001557.4(GDF6):c.*2189T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364008	NM_001001557.4(GDF6):c.*2170A>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 364009	NM_001001557.4(GDF6):c.*2122C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 364010	NM_001001557.4(GDF6):c.*2001A>G	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 913596	NM_001001557.4(GDF6):c.*1978G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 913597	NM_001001557.4(GDF6):c.*1781G>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364011	NM_001001557.4(GDF6):c.*1671C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 913991	NM_001001557.4(GDF6):c.*1441C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364012	NM_001001557.4(GDF6):c.1429_1430del	GDF6	Deletion (3 prime UTR variant)	Klippel-Feil syndrome	GLikely benign
Select item 913992	NM_001001557.4(GDF6):c.*1138G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364013	NM_001001557.4(GDF6):c.*1090G>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 364014	NM_001001557.4(GDF6):c.*1084C>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 913993	NM_001001557.4(GDF6):c.*1083C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 913994	NM_001001557.4(GDF6):c.*1055G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 913995	NM_001001557.4(GDF6):c.*1043A>G	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364015	NM_001001557.4(GDF6):c.*998G>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 915224	NM_001001557.4(GDF6):c.*908G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364016	NM_001001557.4(GDF6):c.*891G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 915225	NM_001001557.4(GDF6):c.*868C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364017	NM_001001557.4(GDF6):c.*842T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 364018	NM_001001557.4(GDF6):c.*781G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 364019	NM_001001557.4(GDF6):c.*767T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 915226	NM_001001557.4(GDF6):c.*734T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 912527	NM_001001557.4(GDF6):c.*725C>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364020	NM_001001557.4(GDF6):c.*711G>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 364021	NM_001001557.4(GDF6):c.*653C>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 912528	NM_001001557.4(GDF6):c.*647C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 912529	NM_001001557.4(GDF6):c.*620A>G	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364022	NM_001001557.4(GDF6):c.*577A>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 912530	NM_001001557.4(GDF6):c.*546G>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 912531	NM_001001557.4(GDF6):c.*529C>G	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 913637	NM_001001557.4(GDF6):c.*405G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364023	NM_001001557.4(GDF6):c.*380A>G	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 913638	NM_001001557.4(GDF6):c.*333G>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364024	NM_001001557.4(GDF6):c.322_323insTT	GDF6	Insertion (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364025	NM_001001557.4(GDF6):c.321_322del	GDF6	Deletion (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364026	NM_001001557.4(GDF6):c.320_321insCTTT	GDF6	Insertion (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 913639	NM_001001557.4(GDF6):c.*319A>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364027	NM_001001557.4(GDF6):c.*273CT[20]	GDF6	Microsatellite (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364028	NM_001001557.4(GDF6):c.*288T>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364029	NM_001001557.4(GDF6):c.*280T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364030	NM_001001557.4(GDF6):c.272_278del	GDF6	Deletion (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364031	NM_001001557.4(GDF6):c.*276T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364032	NM_001001557.4(GDF6):c.268_275delinsCTTT	GDF6	Indel (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 914034	NM_001001557.4(GDF6):c.*274T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 914035	NM_001001557.4(GDF6):c.*273C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 1220222	NM_001001557.4(GDF6):c.271_272insCTCTC	GDF6	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 1220043	NM_001001557.4(GDF6):c.271_272insCTCTCTC	GDF6	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 364034	NM_001001557.4(GDF6):c.271_272insCTC	GDF6	Insertion (3 prime UTR variant)	Klippel-Feil syndrome +1 more	GConflicting classifications of pathogenicity
Select item 364033	NM_001001557.4(GDF6):c.271_272insC	GDF6	Insertion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914036	NM_001001557.4(GDF6):c.*271T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364035	NM_001001557.4(GDF6):c.*268G>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364036	NM_001001557.4(GDF6):c.*249G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 914037	NM_001001557.4(GDF6):c.*205T>C	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364037	NM_001001557.4(GDF6):c.*172A>G	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 364038	NM_001001557.4(GDF6):c.*165C>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 364039	NM_001001557.4(GDF6):c.*144G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 914547	NM_001001557.4(GDF6):c.*106A>T	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364040	NM_001001557.4(GDF6):c.*58G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 364041	NM_001001557.4(GDF6):c.*28G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GBenign
Select item 914548	NM_001001557.4(GDF6):c.*27G>A	GDF6	Single nucleotide variant (3 prime UTR variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 2011525	NM_001001557.4(GDF6):c.1365G>A (p.Arg455=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 1974165	NM_001001557.4(GDF6):c.1365G>T (p.Arg455Ser)	GDF6 (R455S)	Single nucleotide variant (missense variant)	Isolated microphthalmia 4 +3 more	GLikely benign
Select item 1055966	NM_001001557.4(GDF6):c.1357G>A (p.Gly453Ser)	GDF6 (G453S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2168485	NM_001001557.4(GDF6):c.1353G>C (p.Ser451=)	GDF6	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 4 +3 more	GLikely benign
Select item 914549	NM_001001557.4(GDF6):c.1348G>A (p.Glu450Lys)	GDF6 (E450K)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant	GUncertain significance
Select item 2039380	NM_001001557.4(GDF6):c.1347G>A (p.Val449=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 1368768	NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln)	GDF6 (E445Q)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 495116	NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn)	GDF6 (Y444N)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 4	GPathogenic
Select item 1043780	NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys)	GDF6 (Y441C)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 1001816	NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser)	GDF6 (N437S)	Single nucleotide variant (missense variant)	Isolated microphthalmia 4 +3 more	GUncertain significance
Select item 1504498	NM_001001557.4(GDF6):c.1306G>A (p.Gly436Ser)	GDF6 (G436S)	Single nucleotide variant (missense variant)	Isolated microphthalmia 4 +3 more	GUncertain significance
Select item 364042	NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)	GDF6 (A435V)	Single nucleotide variant (missense variant)	Isolated microphthalmia 4 +3 more	GConflicting classifications of pathogenicity
Select item 1087876	NM_001001557.4(GDF6):c.1302C>T (p.Asp434=)	GDF6	Single nucleotide variant (synonymous variant)	GDF6-related disorder +4 more	GLikely benign
Select item 2070707	NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=)	GDF6	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GLikely benign
Select item 1143384	NM_001001557.4(GDF6):c.1293A>G (p.Leu431=)	GDF6	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 495115	NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg)	GDF6 (S429R)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 4	GUncertain significance
Select item 1370632	NM_001001557.4(GDF6):c.1282A>G (p.Ile428Val)	GDF6 (I428V)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 8373	NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	GDF6 (K424R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +4 more	GConflicting classifications of pathogenicity
Select item 1520240	NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile)	GDF6 (T423I)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance

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