ClinVar for Gene (Select 30815) - ClinVar

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

Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322968	NM_013443.5(ST6GALNAC6):c.898C>T (p.His300Tyr)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (H325Y +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3322967	NM_013443.5(ST6GALNAC6):c.107G>A (p.Ser36Asn)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (S61N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322966	NM_013443.5(ST6GALNAC6):c.232C>T (p.Arg78Cys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R44C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3170704	NM_013443.5(ST6GALNAC6):c.91C>T (p.Arg31Cys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R56C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170703	NM_013443.5(ST6GALNAC6):c.683G>A (p.Arg228Gln)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R253Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170702	NM_013443.5(ST6GALNAC6):c.673G>A (p.Asp225Asn)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (D191N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170701	NM_013443.5(ST6GALNAC6):c.557C>T (p.Pro186Leu)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (P186L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170700	NM_013443.5(ST6GALNAC6):c.401G>T (p.Arg134Leu)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R134L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170699	NM_013443.5(ST6GALNAC6):c.124C>T (p.Arg42Trp)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R67W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3026969	NM_013443.5(ST6GALNAC6):c.813-4C>T	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2621146	NM_013443.5(ST6GALNAC6):c.655C>T (p.Arg219Cys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R219C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2605623	NM_013443.5(ST6GALNAC6):c.44T>C (p.Leu15Pro)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (L15P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2508088	NM_013443.5(ST6GALNAC6):c.592C>T (p.Arg198Cys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R164C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2492715	NM_013443.5(ST6GALNAC6):c.80C>A (p.Pro27His)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (P52H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2454447	NM_013443.5(ST6GALNAC6):c.11C>T (p.Ser4Leu)	ST6GALNAC6, ST6GALNAC4-ST6GALNAC6-AK1 (S4L)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2384329	NM_013443.5(ST6GALNAC6):c.824G>A (p.Arg275His)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (A274T +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2382961	NM_013443.5(ST6GALNAC6):c.521G>A (p.Arg174Gln)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R174Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2382258	NM_013443.5(ST6GALNAC6):c.652G>A (p.Gly218Ser)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (G218S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2377975	NM_013443.5(ST6GALNAC6):c.695G>A (p.Gly232Asp)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (G198D +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2346384	NM_013443.5(ST6GALNAC6):c.775G>A (p.Val259Met)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (V225M +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2317162	NM_013443.5(ST6GALNAC6):c.139G>A (p.Val47Met)	ST6GALNAC6, ST6GALNAC4-ST6GALNAC6-AK1 (V47M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2269139	NM_013443.5(ST6GALNAC6):c.308C>T (p.Ser103Phe)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (S69F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2227404	NM_013443.5(ST6GALNAC6):c.89G>A (p.Arg30Lys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R30K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2212008	NM_013443.5(ST6GALNAC6):c.682C>T (p.Arg228Trp)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R194W +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1070851	NC_000009.11:g.(?_130577951)_(130700109_?)del	AK1, DPM2 +4 more	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, ANGPTL2 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 831938	NC_000009.12:g.(?_127815672)_(128541180_?)del	AK1, BBLN +22 more	Deletion	not provided	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 64