28596[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
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 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 147069	GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3	ARID4B, B3GALNT2 +75 more	Copy number gain	See cases	GUncertain significance
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 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 2640097	NM_003193.5(TBCE):c.1271-610G>T	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3017616	NM_003193.5(TBCE):c.1271-16_1271-15del	B3GALNT2, TBCE	Deletion (intron variant)	not provided	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 1651925	NM_003193.5(TBCE):c.1271-15T>G	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	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 737370	NM_003193.5(TBCE):c.1290T>C (p.Asp430=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous 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 3008214	NM_003193.5(TBCE):c.1296A>G (p.Glu432=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant)	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 2980363	NM_003193.5(TBCE):c.1306_1307del (p.Gln436fs)	B3GALNT2, TBCE (Q487fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1333319	NM_003193.5(TBCE):c.1333CTA[1] (p.Leu446del)	B3GALNT2, TBCE (L333del +2 more)	Microsatellite (inframe_deletion)	Encephalopathy, progressive, with amyotrophy and optic atrophy	GUncertain significance
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 2871799	NM_003193.5(TBCE):c.1339+7A>C	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961420	NM_003193.5(TBCE):c.1339+7A>T	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2193806	NM_003193.5(TBCE):c.1339+13_1339+18del	B3GALNT2, TBCE	Deletion (intron variant)	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 2759605	NM_003193.5(TBCE):c.1339+16T>C	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293923	NM_003193.5(TBCE):c.1339+126A>T	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203300	NM_003193.5(TBCE):c.1339+174G>C	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241784	NM_003193.5(TBCE):c.1339+264C>T	B3GALNT2, TBCE	Single nucleotide variant (intron variant)	not provided	GBenign
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 2838237	NM_003193.5(TBCE):c.1340-17_1340-14del	B3GALNT2, LOC126806060 +1 more	Deletion (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 1569448	NM_003193.5(TBCE):c.1340-11_1340-8del	B3GALNT2, LOC126806060 +1 more	Deletion (intron variant)	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 2118586	NM_003193.5(TBCE):c.1340-5T>C	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (intron variant)	not provided	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 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 2118239	NM_003193.5(TBCE):c.1362T>C (p.His454=)	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088574	NM_003193.5(TBCE):c.1380C>T (p.Val460=)	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (synonymous variant)	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 1470926	NM_003193.5(TBCE):c.1397C>G (p.Pro466Arg)	B3GALNT2, LOC126806060 +1 more (P466R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 296311	NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu)	B3GALNT2, LOC126806060 +1 more (P466L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1934728	NM_003193.5(TBCE):c.1398G>T (p.Pro466=)	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1350602	NM_003193.5(TBCE):c.1398G>A (p.Pro466=)	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 1259247	NM_003193.5(TBCE):c.1399+181dup	B3GALNT2, LOC126806060 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1237599	NM_003193.5(TBCE):c.1399+255AC[11]	LOC126806060, TBCE +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1234480	NM_003193.5(TBCE):c.1399+273_1399+274insTATA	B3GALNT2, LOC126806060 +1 more	Insertion (intron variant)	not provided	GBenign
Select item 1276305	NM_003193.5(TBCE):c.1399+274C>T	B3GALNT2, LOC126806060 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239055	NM_003193.5(TBCE):c.1399+275AT[7]	B3GALNT2, LOC126806060 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1274414	NM_003193.5(TBCE):c.1399+285AC[8]	B3GALNT2, LOC126806060 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1211214	NM_003193.5(TBCE):c.1400-224G>A	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1186898	NM_003193.5(TBCE):c.1400-143A>C	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1280812	NM_003193.5(TBCE):c.1400-109dup	B3GALNT2, TBCE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1250633	NM_003193.5(TBCE):c.1400-110_1400-109dup	B3GALNT2, TBCE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233617	NM_003193.5(TBCE):c.1400-111_1400-109dup	B3GALNT2, TBCE	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1242668	NM_003193.5(TBCE):c.1400-109del	B3GALNT2, TBCE	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 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 875575	NM_003193.5(TBCE):c.1400-14T>C	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1991247	NM_003193.5(TBCE):c.1400-12G>A	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 1806069	NM_003193.5(TBCE):c.1410_1434dup (p.Ser479fs)	B3GALNT2, TBCE (S366fs +2 more)	Duplication (3 prime UTR variant +1 more)	Encephalopathy, progressive, with amyotrophy and optic atrophy	GUncertain significance
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 1969090	NM_003193.5(TBCE):c.1419G>A (p.Lys473=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1491529	NM_003193.5(TBCE):c.1423_1455dup (p.Pro485_Val486insLysGlyLeuLeuSerArgLeuLeuLysValPro)	B3GALNT2, TBCE	Duplication (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 1959485	NM_003193.5(TBCE):c.1429T>C (p.Leu477=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2004825	NM_003193.5(TBCE):c.1433T>C (p.Leu478Pro)	B3GALNT2, TBCE (L478P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2187208	NM_003193.5(TBCE):c.1438C>T (p.Arg480Cys)	B3GALNT2, TBCE (R367C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1471918	NM_003193.5(TBCE):c.1439G>A (p.Arg480His)	B3GALNT2, TBCE (R367H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2066335	NM_003193.5(TBCE):c.1465C>G (p.Leu489Val)	B3GALNT2, TBCE (L489V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 282266	NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)	B3GALNT2, TBCE (L489I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1531827	NM_003193.5(TBCE):c.1470G>T (p.Leu490=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2009412	NM_003193.5(TBCE):c.1473G>A (p.Leu491=)	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 520625	NM_003193.5(TBCE):c.1491_1491+4dup	B3GALNT2, TBCE	Duplication (splice donor variant +1 more)	Autosomal recessive Kenny-Caffey syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1624936	NM_003193.5(TBCE):c.1491+3_1491+7dup	B3GALNT2, TBCE	Duplication (3 prime UTR variant +1 more)	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 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 1658575	NM_003193.5(TBCE):c.1492-18C>T	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 296312	NM_003193.5(TBCE):c.1492-14C>T	TBCE, B3GALNT2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely 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 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 1646865	NM_003193.5(TBCE):c.1492-13G>A	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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