ClinVar for Gene (Select 26229) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244738	NC_000011.9:g.(?_62105450)_(62414071_?)dup	AHNAK, ASRGL1 +8 more	Duplication	not provided	GUncertain significance
Select item 3132556	NM_012200.4(B3GAT3):c.695A>G (p.Gln232Arg)	B3GAT3 (Q225R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132555	NM_012200.4(B3GAT3):c.691G>A (p.Val231Ile)	B3GAT3 (V231I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3029799	NM_012200.4(B3GAT3):c.177A>C (p.Arg59=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	B3GAT3-related disorder	GLikely benign
Select item 2999331	NM_012200.4(B3GAT3):c.123C>T (p.Ala41=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2998764	NM_012200.4(B3GAT3):c.480G>A (p.Gln160=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2997585	NM_012200.4(B3GAT3):c.981G>A (p.Arg327=)	B3GAT3	Single nucleotide variant (synonymous variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2996858	NM_012200.4(B3GAT3):c.298_301del (p.Leu100fs)	B3GAT3 (L93fs +1 more)	Deletion (frameshift variant +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 2987879	NM_012200.4(B3GAT3):c.82+15G>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2987493	NM_012200.4(B3GAT3):c.910-13C>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2982598	NM_012200.4(B3GAT3):c.82+10G>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2982597	NM_012200.4(B3GAT3):c.82+11del	B3GAT3	Deletion (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2978977	NM_012200.4(B3GAT3):c.11A>G (p.Lys4Arg)	B3GAT3 (K4R)	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2913540	NM_012200.4(B3GAT3):c.96C>T (p.Asp32=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2912221	NM_012200.4(B3GAT3):c.82+18G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2906193	NM_012200.4(B3GAT3):c.82+1G>A	B3GAT3	Single nucleotide variant (splice donor variant)	Larsen-like syndrome, B3GAT3 type	GLikely pathogenic
Select item 2901063	NM_012200.4(B3GAT3):c.24G>A (p.Val8=)	B3GAT3	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2890773	NM_012200.4(B3GAT3):c.334G>T (p.Glu112Ter)	B3GAT3 (E112* +1 more)	Single nucleotide variant (nonsense +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 2889692	NM_012200.4(B3GAT3):c.512G>C (p.Arg171Thr)	B3GAT3 (R164T +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2888062	NM_012200.4(B3GAT3):c.910-9C>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2887847	NM_012200.4(B3GAT3):c.910-6G>A	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2874482	NM_012200.4(B3GAT3):c.619-10C>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2855899	NM_012200.4(B3GAT3):c.60C>T (p.Leu20=)	B3GAT3	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2846425	NM_012200.4(B3GAT3):c.576T>C (p.Phe192=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2844231	NM_012200.4(B3GAT3):c.150del (p.Ile51fs)	B3GAT3 (I44fs +1 more)	Deletion (frameshift variant +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 2811020	NM_012200.4(B3GAT3):c.735C>T (p.Pro245=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2803825	NM_012200.4(B3GAT3):c.619-9C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2797326	NM_012200.4(B3GAT3):c.36C>A (p.Tyr12Ter)	B3GAT3 (Y12*)	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 2769506	NM_012200.4(B3GAT3):c.162G>T (p.Leu54=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2766062	NM_012200.4(B3GAT3):c.303C>T (p.Ser101=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2761927	NM_012200.4(B3GAT3):c.829C>T (p.Arg277Trp)	B3GAT3 (R270W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2749088	NM_012200.4(B3GAT3):c.985T>C (p.Ser329Pro)	B3GAT3 (S322P +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2740066	NM_012200.4(B3GAT3):c.910-16A>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2736009	NM_012200.4(B3GAT3):c.300G>A (p.Leu100=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2722487	NM_012200.4(B3GAT3):c.819C>T (p.Ser273=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2714181	NM_012200.4(B3GAT3):c.618+8C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2683666	NM_012200.4(B3GAT3):c.85C>T (p.Gln29Ter)	B3GAT3 (Q22* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2578426	NM_012200.4(B3GAT3):c.986C>G (p.Ser329Ter)	B3GAT3 (S322* +1 more)	Single nucleotide variant (nonsense +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely pathogenic
Select item 2576750	NM_012200.4(B3GAT3):c.929G>C (p.Arg310Pro)	B3GAT3 (R303P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2488827	NM_012200.4(B3GAT3):c.422A>T (p.Lys141Ile)	B3GAT3 (K141I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477168	NM_012200.4(B3GAT3):c.347G>A (p.Gly116Asp)	B3GAT3 (G109D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2420394	NM_012200.4(B3GAT3):c.357G>A (p.Pro119=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2398283	NM_012200.4(B3GAT3):c.178C>T (p.Arg60Trp)	B3GAT3 (R53W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387006	NM_012200.4(B3GAT3):c.653T>G (p.Val218Gly)	B3GAT3 (V218G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331867	NM_012200.4(B3GAT3):c.368G>A (p.Gly123Glu)	B3GAT3 (G116E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287099	NM_012200.4(B3GAT3):c.506G>T (p.Arg169Leu)	B3GAT3 (R169L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282545	NM_012200.4(B3GAT3):c.112C>T (p.Arg38Trp)	B3GAT3 (R38W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265643	NM_012200.4(B3GAT3):c.44T>C (p.Val15Ala)	B3GAT3 (V15A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2197760	NM_012200.4(B3GAT3):c.474C>T (p.Val158=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2196670	NM_012200.4(B3GAT3):c.871C>A (p.Pro291Thr)	B3GAT3 (P284T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2188569	NM_012200.4(B3GAT3):c.908G>A (p.Arg303Gln)	B3GAT3 (R296Q +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2187002	NM_012200.4(B3GAT3):c.601C>T (p.Arg201Trp)	B3GAT3 (R194W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2181971	NM_012200.4(B3GAT3):c.340G>A (p.Ala114Thr)	B3GAT3 (A107T +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2181330	NM_012200.4(B3GAT3):c.619-6dup	B3GAT3	Duplication (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2178844	NM_012200.4(B3GAT3):c.910-10C>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2176008	NM_012200.4(B3GAT3):c.619-5G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2171571	NM_012200.4(B3GAT3):c.743C>T (p.Pro248Leu)	B3GAT3 (P248L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2171307	NM_012200.4(B3GAT3):c.681G>A (p.Glu227=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2169218	NM_012200.4(B3GAT3):c.83-20T>C	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2162386	NM_012200.4(B3GAT3):c.699C>T (p.Asp233=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2161933	NM_012200.4(B3GAT3):c.414C>G (p.Leu138=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2158092	NM_012200.4(B3GAT3):c.907C>T (p.Arg303Trp)	B3GAT3 (R296W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2154279	NM_012200.4(B3GAT3):c.83-11C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2150114	NM_012200.4(B3GAT3):c.492C>T (p.Ala164=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2149208	NM_012200.4(B3GAT3):c.202C>G (p.Pro68Ala)	B3GAT3 (P61A +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type +1 more	GUncertain significance
Select item 2148000	NM_012200.4(B3GAT3):c.444C>T (p.Gly148=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2145277	NM_012200.4(B3GAT3):c.279G>A (p.Leu93=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2141532	NM_012200.4(B3GAT3):c.313C>T (p.Arg105Trp)	B3GAT3 (R105W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2140203	NM_012200.4(B3GAT3):c.82+3G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2137125	NM_012200.4(B3GAT3):c.1A>G (p.Met1Val)	B3GAT3 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Larsen-like syndrome, B3GAT3 type	GLikely pathogenic
Select item 2129240	NM_012200.4(B3GAT3):c.618+11G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2126550	NM_012200.4(B3GAT3):c.619-19C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2117409	NM_012200.4(B3GAT3):c.597C>T (p.Tyr199=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2092412	NM_012200.4(B3GAT3):c.1006T>G (p.Ter336Gly)	B3GAT3	Single nucleotide variant (stop lost +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2083789	NM_012200.4(B3GAT3):c.390C>T (p.Leu130=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2081130	NM_012200.4(B3GAT3):c.517G>A (p.Gly173Ser)	B3GAT3 (G166S +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2071395	NM_012200.4(B3GAT3):c.350C>T (p.Pro117Leu)	B3GAT3 (P117L +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2067186	NM_012200.4(B3GAT3):c.725C>T (p.Ala242Val)	B3GAT3 (A242V +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2059139	NM_012200.4(B3GAT3):c.694C>G (p.Gln232Glu)	B3GAT3 (Q232E +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2059116	NM_012200.4(B3GAT3):c.466C>T (p.Arg156Cys)	B3GAT3 (R156C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2058942	NM_012200.4(B3GAT3):c.459T>C (p.Val153=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2052588	NM_012200.4(B3GAT3):c.876G>C (p.Lys292Asn)	B3GAT3 (K285N +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2047202	NM_012200.4(B3GAT3):c.178C>G (p.Arg60Gly)	B3GAT3 (R60G +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2037445	NM_012200.4(B3GAT3):c.560A>C (p.Gln187Pro)	B3GAT3 (Q180P +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2034446	NM_012200.4(B3GAT3):c.240T>C (p.Val80=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1998893	NM_012200.4(B3GAT3):c.126_154dup (p.Ser52delinsCysSerTyrGlyArgArgIleTer)	B3GAT3	Duplication (nonsense +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 1995805	NM_012200.4(B3GAT3):c.135del (p.Gln46fs)	B3GAT3 (Q46fs +1 more)	Deletion (frameshift variant +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 1991628	NM_012200.4(B3GAT3):c.604G>T (p.Glu202Ter)	B3GAT3 (E202* +1 more)	Single nucleotide variant (nonsense +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 1991215	NM_012200.4(B3GAT3):c.82G>A (p.Gly28Ser)	B3GAT3 (G28S)	Single nucleotide variant (5 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1983564	NM_012200.4(B3GAT3):c.229A>G (p.Ile77Val)	B3GAT3 (I70V +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1982151	NM_012200.4(B3GAT3):c.7CTGAAG[3] (p.Lys6_Asn7insLeuLys)	B3GAT3	Microsatellite (5 prime UTR variant +3 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1981581	NM_012200.4(B3GAT3):c.970C>T (p.Arg324Trp)	B3GAT3 (R317W +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1977829	NM_012200.4(B3GAT3):c.465C>T (p.Pro155=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1976374	NM_012200.4(B3GAT3):c.947T>G (p.Met316Arg)	B3GAT3 (M309R +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1953238	NM_012200.4(B3GAT3):c.237T>C (p.Val79=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1949400	NM_012200.4(B3GAT3):c.823G>A (p.Ala275Thr)	B3GAT3 (A268T +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance

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