ClinVar for Gene (Select 203190) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 159

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374851	NM_139278.4(LGI3):c.831C>T (p.Ala277=)	LGI3	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3371918	NM_139278.4(LGI3):c.170C>T (p.Ala57Val)	LGI3 (A57V)	Single nucleotide variant (missense variant)	not provided	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 3371681	NM_139278.4(LGI3):c.356T>C (p.Ile119Thr)	LGI3 (I119T)	Single nucleotide variant (missense variant)	not provided	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 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 3290549	NM_139278.4(LGI3):c.818A>G (p.Asp273Gly)	LGI3 (D273G)	Single nucleotide variant (missense variant)	not specified	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 3290547	NM_139278.4(LGI3):c.1592G>C (p.Ser531Thr)	LGI3 (S531T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3118529	NM_139278.4(LGI3):c.841G>A (p.Val281Met)	LGI3 (V281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3118527	NM_139278.4(LGI3):c.698C>T (p.Ala233Val)	LGI3 (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3118525	NM_139278.4(LGI3):c.1610T>A (p.Leu537Gln)	LGI3 (L537Q)	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 3118523	NM_139278.4(LGI3):c.1328T>C (p.Ile443Thr)	LGI3 (I443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
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 3038054	NM_139278.4(LGI3):c.36G>C (p.Pro12=)	LGI3	Single nucleotide variant (synonymous variant)	LGI3-related disorder	GBenign
Select item 3037886	NM_139278.4(LGI3):c.34C>T (p.Pro12Ser)	LGI3 (P12S)	Single nucleotide variant (missense variant)	LGI3-related disorder	GBenign
Select item 3037823	NM_139278.4(LGI3):c.778C>T (p.Leu260=)	LGI3	Single nucleotide variant (synonymous variant)	LGI3-related disorder	GBenign
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 3033279	NM_139278.4(LGI3):c.808C>T (p.Arg270Ter)	LGI3 (R270*)	Single nucleotide variant (nonsense)	LGI3-related disorder	GLikely pathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	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 2629432	NM_139278.4(LGI3):c.110C>T (p.Pro37Leu)	LGI3 (P37L)	Single nucleotide variant (missense variant)	LGI3-related disorder +1 more	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 2623925	NM_139278.4(LGI3):c.242A>G (p.Asp81Gly)	LGI3 (D81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617490	NM_139278.4(LGI3):c.241G>A (p.Asp81Asn)	LGI3 (D81N)	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 2613086	NM_139278.4(LGI3):c.968C>T (p.Pro323Leu)	LGI3 (P323L)	Single nucleotide variant (missense variant)	not specified	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 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2572908	NM_139278.4(LGI3):c.351-1G>A	LGI3	Single nucleotide variant (splice acceptor variant)	not provided	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 2549043	NM_139278.4(LGI3):c.814T>C (p.Tyr272His)	LGI3 (Y272H)	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 2510527	NM_139278.4(LGI3):c.531G>C (p.Lys177Asn)	LGI3 (K177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
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 2488590	NM_139278.4(LGI3):c.927T>G (p.Asp309Glu)	LGI3 (D309E)	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 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 2455518	NM_139278.4(LGI3):c.53C>T (p.Ser18Phe)	LGI3 (S18F)	Single nucleotide variant (missense variant)	not provided +1 more	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 2430614	NM_139278.4(LGI3):c.271C>T (p.Gln91Ter)	LGI3 (Q91*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2401666	NM_139278.4(LGI3):c.253T>C (p.Ser85Pro)	LGI3 (S85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2386447	NM_139278.4(LGI3):c.514C>T (p.Leu172Phe)	LGI3 (L172F)	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 2353726	NM_139278.4(LGI3):c.5C>A (p.Ala2Glu)	LGI3 (A2E)	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 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 2295043	NM_139278.4(LGI3):c.1126G>C (p.Asp376His)	LGI3 (D376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2291598	NM_139278.4(LGI3):c.1274C>T (p.Ala425Val)	LGI3 (A425V)	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 2280734	NM_139278.4(LGI3):c.469C>G (p.Arg157Gly)	LGI3 (R157G)	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 2269856	NM_139278.4(LGI3):c.1447C>A (p.Leu483Met)	LGI3 (L483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259465	NM_139278.4(LGI3):c.275T>C (p.Phe92Ser)	LGI3 (F92S)	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 2207360	NM_139278.4(LGI3):c.1166G>A (p.Arg389Gln)	LGI3 (R389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1699933	NM_139278.4(LGI3):c.937del (p.Thr313fs)	LGI3 (T313fs)	Deletion (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699932	NM_139278.4(LGI3):c.102dup (p.Lys35fs)	LGI3 (K35fs)	Duplication (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
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 1699930	NM_139278.4(LGI3):c.422T>A (p.Leu141His)	LGI3 (L141H)	Single nucleotide variant (missense variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699929	NM_139278.4(LGI3):c.1117del (p.Trp373fs)	LGI3 (W373fs)	Deletion (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
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 1699927	NM_139278.4(LGI3):c.335C>A (p.Ser112Ter)	LGI3 (S112*)	Single nucleotide variant (nonsense)	Peripheral nerve hyperexcitability syndrome	GPathogenic
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 1699925	NC_000008.11:g.22146137_22152989del	LGI3	Deletion	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1527423	GRCh37/hg19 8p21.3(chr8:21303187-22230498)	BMP1, DMTN +16 more	Copy number gain	not specified	GUncertain significance
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 770570	NM_139278.4(LGI3):c.1150G>A (p.Gly384Ser)	LGI3 (G384S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 745609	NM_139278.4(LGI3):c.35C>T (p.Pro12Leu)	LGI3 (P12L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686571	GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	BIN3, BMP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 686077	GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3	BMP1, DMTN +9 more	Copy number gain	not provided	GUncertain significance
Select item 685557	GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1	BMP1, DMTN +15 more	Copy number loss	not provided	GUncertain significance
Select item 685405	GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3	BMP1, DMTN +16 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic

<< First< Prev

Page of 2