GSPT1[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3102925	NM_002094.4(GSPT1):c.1900C>T (p.Pro634Ser)	GSPT1, RSL1D1-DT (P634S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619597	NM_002094.4(GSPT1):c.1765C>G (p.Gln589Glu)	GSPT1, RSL1D1-DT (Q588E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311041	NM_002094.4(GSPT1):c.1646A>G (p.Asn549Ser)	GSPT1, RSL1D1-DT (N548S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329155	NM_002094.4(GSPT1):c.1595A>G (p.Asp532Gly)	GSPT1, RSL1D1-DT (D394G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355456	NM_002094.4(GSPT1):c.1363G>A (p.Val455Ile)	GSPT1, RSL1D1-DT (V317I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290986	NM_002094.4(GSPT1):c.1107T>A (p.Asn369Lys)	GSPT1, RSL1D1-DT (N369K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540567	NM_002094.4(GSPT1):c.845G>A (p.Arg282His)	GSPT1, RSL1D1-DT (R282H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314300	NM_002094.4(GSPT1):c.728C>T (p.Thr243Met)	GSPT1, RSL1D1-DT (T242M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102932	NM_002094.4(GSPT1):c.712A>G (p.Met238Val)	GSPT1, RSL1D1-DT (M100V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102931	NM_002094.4(GSPT1):c.631G>C (p.Glu211Gln)	GSPT1, RSL1D1-DT (E211Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102929	NM_002094.4(GSPT1):c.611C>T (p.Pro204Leu)	GSPT1, RSL1D1-DT (P203L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269479	NM_002094.4(GSPT1):c.602T>C (p.Val201Ala)	GSPT1, RSL1D1-DT (V200A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396441	NM_002094.4(GSPT1):c.583A>G (p.Ile195Val)	GSPT1, RSL1D1-DT (I194V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374106	NM_002094.4(GSPT1):c.546G>C (p.Glu182Asp)	GSPT1, RSL1D1-DT (E181D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290987	NM_002094.4(GSPT1):c.545A>G (p.Glu182Gly)	GSPT1, RSL1D1-DT (E181G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319178	NM_002094.4(GSPT1):c.523T>A (p.Leu175Met)	GSPT1, RSL1D1-DT (L175M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353995	NM_002094.4(GSPT1):c.517G>C (p.Gly173Arg)	GSPT1, RSL1D1-DT (G172R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484383	NM_002094.4(GSPT1):c.514G>T (p.Gly172Cys)	GSPT1, RSL1D1-DT (G34C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533905	NM_002094.4(GSPT1):c.463C>A (p.Pro155Thr)	GSPT1, RSL1D1-DT (P154T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589051	NM_002094.4(GSPT1):c.400A>G (p.Asn134Asp)	GSPT1, RSL1D1-DT (N134D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477765	NM_002094.4(GSPT1):c.356C>G (p.Pro119Arg)	GSPT1, RSL1D1-DT (P119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102927	NM_002094.4(GSPT1):c.315T>A (p.Asn105Lys)	GSPT1, LOC130058512 (N105K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608486	NM_002094.4(GSPT1):c.284C>T (p.Ala95Val)	GSPT1 (A95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102926	NM_002094.4(GSPT1):c.209A>G (p.Asn70Ser)	GSPT1 (N70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102924	NM_002094.4(GSPT1):c.176A>C (p.Glu59Ala)	GSPT1 (E59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294007	NM_002094.4(GSPT1):c.106A>G (p.Met36Val)	GSPT1 (M36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273141	NM_002094.4(GSPT1):c.105C>G (p.Asp35Glu)	GSPT1 (D35E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391624	NM_002094.4(GSPT1):c.83C>T (p.Pro28Leu)	GSPT1 (P28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102930	NM_002094.4(GSPT1):c.61A>G (p.Ser21Gly)	GSPT1 (S21G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266452	NM_002094.4(GSPT1):c.56G>C (p.Ser19Thr)	GSPT1 (S19T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378940	NM_002094.4(GSPT1):c.55A>G (p.Ser19Gly)	GSPT1 (S19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378939	NM_002094.4(GSPT1):c.52A>G (p.Ser18Gly)	GSPT1 (S18G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102928	NM_002094.4(GSPT1):c.49A>G (p.Ser17Gly)	GSPT1 (S17G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2685557	GRCh37/hg19 16p13.13-13.12(chr16:11444572-12722447)x1	BCAR4, GSPT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684787	GRCh37/hg19 16p13.13(chr16:11822960-12056945)x3	BCAR4, GSPT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684785	GRCh37/hg19 16p13.13(chr16:11466110-12065032)x3	BCAR4, GSPT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1809399	GRCh37/hg19 16p13.13(chr16:12007435-12073710)x1	GSPT1, SNX29 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1340054	GRCh37/hg19 16p13.13(chr16:12007434-12085776)x1	GSPT1, SNX29 +1 more	Copy number loss	not provided	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 685893	GRCh37/hg19 16p13.13-13.12(chr16:11922647-12621101)x3	BCAR4, GSPT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564274	GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1	BFAR, CPPED1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564273	GRCh37/hg19 16p13.13(chr16:11954001-12161925)x3	GSPT1, TNFRSF17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 61