ST8SIA4[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 153343	GRCh38/hg38 5q21.1(chr5:100520442-101589071)x3	FAM174A, FAM174A-DT +16 more	Copy number gain	See cases	GUncertain significance
Select item 2570263	NM_005668.6(ST8SIA4):c.1061G>A (p.Gly354Glu)	ST8SIA4 (G354E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374009	NM_005668.6(ST8SIA4):c.932C>A (p.Ala311Glu)	ST8SIA4 (A311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289229	NM_005668.6(ST8SIA4):c.820C>T (p.Pro274Ser)	ST8SIA4 (P274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359585	NM_005668.6(ST8SIA4):c.755G>A (p.Arg252Gln)	ST8SIA4 (R252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322976	NM_005668.6(ST8SIA4):c.709G>A (p.Val237Met)	ST8SIA4 (V237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317068	NM_005668.6(ST8SIA4):c.662G>A (p.Ser221Asn)	ST8SIA4 (S221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405203	NM_005668.6(ST8SIA4):c.608G>A (p.Arg203Gln)	ST8SIA4 (R203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322978	NM_005668.6(ST8SIA4):c.562A>G (p.Ile188Val)	ST8SIA4 (I188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170731	NM_005668.6(ST8SIA4):c.472A>G (p.Lys158Glu)	ST8SIA4 (K158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322977	NM_005668.6(ST8SIA4):c.182C>G (p.Ser61Cys)	ST8SIA4 (S61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465572	NM_005668.6(ST8SIA4):c.170G>A (p.Arg57Gln)	ST8SIA4 (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170730	NM_005668.6(ST8SIA4):c.152G>T (p.Ser51Ile)	ST8SIA4 (S51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170732	NM_005668.6(ST8SIA4):c.52A>G (p.Ile18Val)	ST8SIA4 (I18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568532	NM_005668.6(ST8SIA4):c.31T>G (p.Cys11Gly)	ST8SIA4 (C11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1527181	GRCh37/hg19 5q21.1(chr5:99850386-100924775)	FAM174A, ST8SIA4	Copy number gain	not specified	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441955	GRCh37/hg19 5q21.1-21.2(chr5:98845559-103355831)x1	FAM174A, GIN1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 39