203190[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 1699925	NC_000008.11:g.22146137_22152989del	LGI3	Deletion	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 3118525	NM_139278.4(LGI3):c.1610T>A (p.Leu537Gln)	LGI3 (L537Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290547	NM_139278.4(LGI3):c.1592G>C (p.Ser531Thr)	LGI3 (S531T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118524	NM_139278.4(LGI3):c.1528G>A (p.Val510Met)	LGI3 (V510M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371612	NM_139278.4(LGI3):c.1510C>T (p.Arg504Trp)	LGI3 (R504W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461304	NM_139278.4(LGI3):c.1496G>A (p.Arg499Gln)	LGI3 (R499Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269856	NM_139278.4(LGI3):c.1447C>A (p.Leu483Met)	LGI3 (L483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482873	NM_139278.4(LGI3):c.1363C>A (p.Arg455Ser)	LGI3 (R455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278741	NM_139278.4(LGI3):c.1363C>T (p.Arg455Cys)	LGI3 (R455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118523	NM_139278.4(LGI3):c.1328T>C (p.Ile443Thr)	LGI3 (I443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433425	NM_139278.4(LGI3):c.1322G>A (p.Arg441His)	LGI3 (R441H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects	GUncertain significance
Select item 2291598	NM_139278.4(LGI3):c.1274C>T (p.Ala425Val)	LGI3 (A425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034357	NM_139278.4(LGI3):c.1197C>T (p.Pro399=)	LGI3	Single nucleotide variant (synonymous variant)	LGI3-related disorder	GLikely benign
Select item 2207360	NM_139278.4(LGI3):c.1166G>A (p.Arg389Gln)	LGI3 (R389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770570	NM_139278.4(LGI3):c.1150G>A (p.Gly384Ser)	LGI3 (G384S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2295043	NM_139278.4(LGI3):c.1126G>C (p.Asp376His)	LGI3 (D376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616284	NM_139278.4(LGI3):c.1120C>T (p.His374Tyr)	LGI3 (H374Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699929	NM_139278.4(LGI3):c.1117del (p.Trp373fs)	LGI3 (W373fs)	Deletion (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 2294943	NM_139278.4(LGI3):c.1114C>A (p.Pro372Thr)	LGI3 (P372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2663271	NM_139278.4(LGI3):c.1077G>T (p.Trp359Cys)	LGI3 (W359C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2298837	NM_139278.4(LGI3):c.1073G>A (p.Arg358His)	LGI3 (R358H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371917	NM_139278.4(LGI3):c.1033G>A (p.Val345Met)	LGI3 (V345M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3290548	NM_139278.4(LGI3):c.1007G>A (p.Arg336His)	LGI3 (R336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699928	NM_139278.4(LGI3):c.991G>A (p.Asp331Asn)	LGI3 (D331N)	Single nucleotide variant (missense variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 3118530	NM_139278.4(LGI3):c.976G>A (p.Val326Met)	LGI3 (V326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613086	NM_139278.4(LGI3):c.968C>T (p.Pro323Leu)	LGI3 (P323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488591	NM_139278.4(LGI3):c.946A>G (p.Thr316Ala)	LGI3 (T316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3370739	NM_139278.4(LGI3):c.940C>T (p.Arg314Cys)	LGI3 (R314C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699933	NM_139278.4(LGI3):c.937del (p.Thr313fs)	LGI3 (T313fs)	Deletion (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 2488590	NM_139278.4(LGI3):c.927T>G (p.Asp309Glu)	LGI3 (D309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309726	NM_139278.4(LGI3):c.916T>A (p.Tyr306Asn)	LGI3 (Y306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282235	NM_139278.4(LGI3):c.863T>C (p.Val288Ala)	LGI3 (V288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528905	NM_139278.4(LGI3):c.859G>T (p.Val287Leu)	LGI3 (V287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118529	NM_139278.4(LGI3):c.841G>A (p.Val281Met)	LGI3 (V281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374851	NM_139278.4(LGI3):c.831C>T (p.Ala277=)	LGI3	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1699931	NM_139278.4(LGI3):c.830-1G>A	LGI3	Single nucleotide variant (splice acceptor variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 3290549	NM_139278.4(LGI3):c.818A>G (p.Asp273Gly)	LGI3 (D273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549043	NM_139278.4(LGI3):c.814T>C (p.Tyr272His)	LGI3 (Y272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033279	NM_139278.4(LGI3):c.808C>T (p.Arg270Ter)	LGI3 (R270*)	Single nucleotide variant (nonsense)	LGI3-related disorder	GLikely pathogenic
Select item 3037823	NM_139278.4(LGI3):c.778C>T (p.Leu260=)	LGI3	Single nucleotide variant (synonymous variant)	LGI3-related disorder	GBenign
Select item 2400240	NM_139278.4(LGI3):c.775A>G (p.Ile259Val)	LGI3 (I259V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118528	NM_139278.4(LGI3):c.742G>A (p.Ala248Thr)	LGI3 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254028	NM_139278.4(LGI3):c.737A>G (p.Tyr246Cys)	LGI3 (Y246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118527	NM_139278.4(LGI3):c.698C>T (p.Ala233Val)	LGI3 (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555971	NM_139278.4(LGI3):c.688G>A (p.Ala230Thr)	LGI3 (A230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626981	NM_139278.4(LGI3):c.665-2A>G	LGI3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2601411	NM_139278.4(LGI3):c.635C>T (p.Pro212Leu)	LGI3 (P212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3367082	NM_139278.4(LGI3):c.625C>T (p.Gln209Ter)	LGI3 (Q209*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects	GLikely pathogenic
Select item 3052314	NM_139278.4(LGI3):c.611A>G (p.Gln204Arg)	LGI3 (Q204R)	Single nucleotide variant (missense variant)	LGI3-related disorder	GBenign
Select item 3118526	NM_139278.4(LGI3):c.532G>A (p.Val178Met)	LGI3 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510527	NM_139278.4(LGI3):c.531G>C (p.Lys177Asn)	LGI3 (K177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386447	NM_139278.4(LGI3):c.514C>T (p.Leu172Phe)	LGI3 (L172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699926	NM_139278.4(LGI3):c.494+1G>C	LGI3	Single nucleotide variant (splice donor variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 2280734	NM_139278.4(LGI3):c.469C>G (p.Arg157Gly)	LGI3 (R157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699930	NM_139278.4(LGI3):c.422T>A (p.Leu141His)	LGI3 (L141H)	Single nucleotide variant (missense variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 3371681	NM_139278.4(LGI3):c.356T>C (p.Ile119Thr)	LGI3 (I119T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572908	NM_139278.4(LGI3):c.351-1G>A	LGI3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1699927	NM_139278.4(LGI3):c.335C>A (p.Ser112Ter)	LGI3 (S112*)	Single nucleotide variant (nonsense)	Peripheral nerve hyperexcitability syndrome	GPathogenic

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