ClinVar for Gene (Select 148789) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258586	NM_152490.5(B3GALNT2):c.919G>T (p.Asp307Tyr)	B3GALNT2 (D307Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258565	NM_152490.5(B3GALNT2):c.533A>G (p.Lys178Arg)	B3GALNT2 (K178R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3252565	NM_152490.5(B3GALNT2):c.103G>C (p.Gly35Arg)	B3GALNT2 (G35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252564	NM_152490.5(B3GALNT2):c.601C>G (p.Gln201Glu)	B3GALNT2 (Q201E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	ACTN2, ARID4B +21 more	Duplication	not provided	GUncertain significance
Select item 3247948	NC_000001.10:g.(?_235543365)_(235612077_?)del	B3GALNT2, TBCE	Deletion	not provided	GPathogenic
Select item 3247816	NC_000001.10:g.(?_235612376)_(235616407_?)del	B3GALNT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 3247815	NC_000001.10:g.(?_235605109)_(235613675_?)del	B3GALNT2, TBCE	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	ACTN2, ARID4B +13 more	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3242280	GRCh37/hg19 1q42.2-42.3(chr1:234117880-236536349)x1	ARID4B, B3GALNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3041448	NM_152490.5(B3GALNT2):c.113-1405G>A	B3GALNT2 (G63D)	Single nucleotide variant (missense variant +1 more)	B3GALNT2-related disorder	GBenign
Select item 3024211	NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)	B3GALNT2 (A101P +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 3023926	NM_152490.5(B3GALNT2):c.40G>C (p.Gly14Arg)	B3GALNT2 (G14R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 3017616	NM_003193.5(TBCE):c.1271-16_1271-15del	B3GALNT2, TBCE	Deletion (intron variant)	not provided	GLikely benign
Select item 3017553	NM_152490.5(B3GALNT2):c.841+1G>T	B3GALNT2 (G322V)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely pathogenic
Select item 3016374	NM_003193.5(TBCE):c.1400-6_1400-3dup	B3GALNT2, TBCE	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3014014	NM_003193.5(TBCE):c.1271-6A>C	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012876	NM_003193.5(TBCE):c.1557T>C (p.Asn519=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3010951	NM_152490.5(B3GALNT2):c.1244G>A (p.Gly415Glu)	B3GALNT2 (G415E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 3008214	NM_003193.5(TBCE):c.1296A>G (p.Glu432=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007714	NM_003193.5(TBCE):c.1491+7T>G	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3007474	NM_152490.5(B3GALNT2):c.113-14G>A	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 3003452	NM_003193.5(TBCE):c.1400-17T>C	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2995857	NM_152490.5(B3GALNT2):c.1307A>G (p.Tyr436Cys)	B3GALNT2 (Y436C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2990023	NM_003193.5(TBCE):c.1570T>C (p.Leu524=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2981823	NM_152490.5(B3GALNT2):c.1152-17A>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2980363	NM_003193.5(TBCE):c.1306_1307del (p.Gln436fs)	B3GALNT2, TBCE (Q487fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2976713	NM_003193.5(TBCE):c.1509C>T (p.Ile503=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2971692	NM_152490.5(B3GALNT2):c.219C>T (p.Thr73=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2970177	NM_003193.5(TBCE):c.1340-20T>C	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962628	NM_003193.5(TBCE):c.1560A>G (p.Gly520=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2957513	NM_003193.5(TBCE):c.1340-10T>C	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902622	NM_152490.5(B3GALNT2):c.257A>C (p.Gln86Pro)	B3GALNT2 (Q127P +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2902055	NM_152490.5(B3GALNT2):c.627C>T (p.Pro209=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2897672	NM_152490.5(B3GALNT2):c.1038A>G (p.Thr346=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2897410	NM_152490.5(B3GALNT2):c.1032G>A (p.Val344=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2887013	NM_152490.5(B3GALNT2):c.362-12C>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2884143	NM_152490.5(B3GALNT2):c.762+12T>C	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2875171	NM_003193.5(TBCE):c.1271-16T>C	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872748	NM_003193.5(TBCE):c.1340-13_1340-10del	B3GALNT2, LOC126806060 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2871799	NM_003193.5(TBCE):c.1339+7A>C	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866701	NM_152490.5(B3GALNT2):c.762+9T>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2863528	NM_152490.5(B3GALNT2):c.168C>T (p.Gly56=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2860642	NM_152490.5(B3GALNT2):c.1409T>A (p.Met470Lys)	B3GALNT2, TBCE (M470K)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2856112	NM_003193.5(TBCE):c.1578A>G (p.Arg526=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2849876	NM_003193.5(TBCE):c.1500C>A (p.Gly500=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2839906	NM_003193.5(TBCE):c.1400-18T>G	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2838237	NM_003193.5(TBCE):c.1340-17_1340-14del	B3GALNT2, LOC126806060 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2834401	NM_003193.5(TBCE):c.1294del (p.Glu432fs)	B3GALNT2, TBCE (E432fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2832107	NM_003193.5(TBCE):c.1497G>T (p.Pro499=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2831779	NM_003193.5(TBCE):c.1400-19T>G	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2829316	NM_003193.5(TBCE):c.1336C>T (p.Leu446=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822862	NM_003193.5(TBCE):c.1443T>C (p.Leu481=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2818318	NM_003193.5(TBCE):c.1339+12A>T	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815252	NM_003193.5(TBCE):c.1569A>G (p.Leu523=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2812344	NM_152490.5(B3GALNT2):c.575G>T (p.Arg192Leu)	B3GALNT2 (R192L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2807940	NM_152490.5(B3GALNT2):c.261-7C>A	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2801228	NM_003193.5(TBCE):c.1416A>G (p.Gln472=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2796220	NM_003193.5(TBCE):c.1301_1307del (p.Lys434fs)	B3GALNT2, TBCE (K321fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2794004	NM_152490.5(B3GALNT2):c.1293G>A (p.Gly431=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2793407	NM_003193.5(TBCE):c.1492-19A>G	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2792900	NM_003193.5(TBCE):c.1393C>T (p.Leu465=)	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792367	NM_003193.5(TBCE):c.1492-13G>T	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2790629	NM_003193.5(TBCE):c.1428A>T (p.Gly476=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2787201	NM_152490.5(B3GALNT2):c.1375C>T (p.Leu459=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2786941	NM_003193.5(TBCE):c.1492-13G>C	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2783896	NM_003193.5(TBCE):c.1455T>C (p.Pro485=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2782745	NM_003193.5(TBCE):c.1401C>T (p.Gly467=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2782506	NM_003193.5(TBCE):c.1425G>A (p.Lys475=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2773142	NM_003193.5(TBCE):c.1355_1362del (p.Tyr452fs)	B3GALNT2, LOC126806060 +1 more (Y339fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2760356	NM_152490.5(B3GALNT2):c.181C>T (p.Arg61Cys)	B3GALNT2 (R102C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2760106	NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)	B3GALNT2 (Y317fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 2759605	NM_003193.5(TBCE):c.1339+16T>C	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758039	NM_003193.5(TBCE):c.1399+12C>T	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737570	NM_003193.5(TBCE):c.1400-20C>A	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2736330	NM_152490.5(B3GALNT2):c.1050T>C (p.Asn350=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2730146	NM_152490.5(B3GALNT2):c.1057C>T (p.Leu353=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2709913	NM_003193.5(TBCE):c.1340-4A>C	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709868	NM_003193.5(TBCE):c.1539G>A (p.Gln513=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2707062	NM_152490.5(B3GALNT2):c.1458A>G (p.Lys486=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2664171	NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)	B3GALNT2 (L260* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely pathogenic
Select item 2640097	NM_003193.5(TBCE):c.1271-610G>T	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2609587	NM_152490.5(B3GALNT2):c.1379G>T (p.Trp460Leu)	B3GALNT2, TBCE (W460L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584939	NM_152490.5(B3GALNT2):c.266T>C (p.Leu89Pro)	B3GALNT2 (L130P +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 2574404	NM_152490.5(B3GALNT2):c.1304_1305delinsTACCTGATAGG (p.Thr435delinsIleProAspArg)	B3GALNT2	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2501513	NM_152490.5(B3GALNT2):c.-2C>T	B3GALNT2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2490281	NM_152490.5(B3GALNT2):c.890T>C (p.Ile297Thr)	B3GALNT2 (I297T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2439461	NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)	B3GALNT2 (S113N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439460	NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)	B3GALNT2 (L13F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439459	NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)	B3GALNT2 (V234A +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439457	NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)	B3GALNT2 (V325A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439456	NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)	B3GALNT2 (I135V +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439455	NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)	B3GALNT2 (N103S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439453	NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)	B3GALNT2 (A308T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance

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