GSK3B[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 791946	NM_001146156.2(GSK3B):c.1191G>A (p.Ala397=)	GSK3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2357613	NM_001146156.2(GSK3B):c.1183A>G (p.Thr395Ala)	GSK3B (T395A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542514	NM_001146156.2(GSK3B):c.1147C>T (p.Arg383Trp)	GSK3B (R396W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1235258	NM_001146156.2(GSK3B):c.1097-185A>T	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784016	NM_001146156.2(GSK3B):c.1071T>C (p.Pro357=)	GSK3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2505322	NM_001146156.2(GSK3B):c.910-2987C>T	GSK3B (R316W)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2550541	NM_001146156.2(GSK3B):c.910-3002T>G	GSK3B (F311V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1244745	NM_001146156.2(GSK3B):c.910-3238A>T	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269327	NM_001146156.2(GSK3B):c.909+227G>A	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180397	NM_001146156.2(GSK3B):c.909+209T>C	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251228	NM_001146156.2(GSK3B):c.814-148T>C	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251553	NM_001146156.2(GSK3B):c.813+121G>A	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245988	NM_001146156.2(GSK3B):c.715+202A>C	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283977	NM_001146156.2(GSK3B):c.609-157T>C	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262531	NM_001146156.2(GSK3B):c.478-41A>G	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721176	NM_001146156.2(GSK3B):c.456G>A (p.Thr152=)	GSK3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1227109	NM_001146156.2(GSK3B):c.283-68G>A	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263908	NM_001146156.2(GSK3B):c.282+69T>C	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3102915	NM_001146156.2(GSK3B):c.272A>G (p.Lys91Arg)	GSK3B (K91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276817	NM_001146156.2(GSK3B):c.195A>T (p.Gly65=)	GSK3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718992	NM_001146156.2(GSK3B):c.99C>T (p.Asp33=)	GSK3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1222554	NM_001146156.2(GSK3B):c.89-85A>G	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281665	NM_001146156.2(GSK3B):c.89-116dup	GSK3B	Duplication (intron variant)	not provided	GBenign
Select item 1225859	NM_001146156.2(GSK3B):c.89-150A>T	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294468	NM_001146156.2(GSK3B):c.89-185G>A	GSK3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258187	NM_001146156.2(GSK3B):c.-1001T>C	GSK3B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1181864	NC_000003.12:g.120094598C>T	GSK3B	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1245824	NC_000003.12:g.120094637C>A	GSK3B, LOC112872290	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527038	GRCh37/hg19 3q13.33(chr3:119354755-119773920)	CFAP91, COX17 +3 more	Copy number gain	not specified	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic

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Items: 47