ST6GALNAC4[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 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 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 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 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC130002656, LOC130002657 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 2276913	NM_175039.4(ST6GALNAC4):c.854G>A (p.Arg285His)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R285H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388813	NM_175039.4(ST6GALNAC4):c.824G>A (p.Arg275His)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R191H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333318	NM_175039.4(ST6GALNAC4):c.668A>G (p.Glu223Gly)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (E223G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322878	NM_175039.4(ST6GALNAC4):c.652A>G (p.Met218Val)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC4 (M134V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170685	NM_175039.4(ST6GALNAC4):c.620C>T (p.Ser207Leu)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (S123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532255	NM_175039.4(ST6GALNAC4):c.577G>A (p.Asp193Asn)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (D109N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2234067	NM_175039.4(ST6GALNAC4):c.500G>A (p.Arg167His)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R167H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2538440	NM_175039.4(ST6GALNAC4):c.497A>G (p.Tyr166Cys)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (Y166C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 749822	NM_175039.4(ST6GALNAC4):c.468C>T (p.His156=)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3170684	NM_175039.4(ST6GALNAC4):c.465G>T (p.Arg155Ser)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170683	NM_175039.4(ST6GALNAC4):c.400C>T (p.Arg134Cys)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R50C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2231255	NM_175039.4(ST6GALNAC4):c.389C>T (p.Pro130Leu)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (P130L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2476300	NM_175039.4(ST6GALNAC4):c.385G>C (p.Val129Leu)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (V129L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170682	NM_175039.4(ST6GALNAC4):c.338C>G (p.Ala113Gly)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (A29G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170681	NM_175039.4(ST6GALNAC4):c.334G>A (p.Glu112Lys)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (E28K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2238820	NM_175039.4(ST6GALNAC4):c.298G>A (p.Val100Met)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (V100M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170680	NM_175039.4(ST6GALNAC4):c.241A>G (p.Ser81Gly)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (S81G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2411075	NM_175039.4(ST6GALNAC4):c.211G>A (p.Glu71Lys)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (E71K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2288651	NM_175039.4(ST6GALNAC4):c.187C>T (p.Pro63Ser)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (P63S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2266837	NM_175039.4(ST6GALNAC4):c.122A>G (p.His41Arg)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (H41R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2212734	NM_175039.4(ST6GALNAC4):c.43G>C (p.Val15Leu)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (V15L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 779096	NM_175039.4(ST6GALNAC4):c.39C>T (p.Cys13=)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2606583	NM_175039.4(ST6GALNAC4):c.25C>T (p.Leu9Phe)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (L9F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2608374	NM_175039.4(ST6GALNAC4):c.22G>A (p.Val8Met)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (V8M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +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)	OR1L4, PTRH1 +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, EEIG1 +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	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +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	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 62