"GeneDx"[submitter] AND "SNRNP200"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 1311196	NM_014014.5(SNRNP200):c.6178C>T (p.Arg2060Cys)	SNRNP200 (R2060C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326382	NM_014014.5(SNRNP200):c.5404A>G (p.Ile1802Val)	SNRNP200 (I1802V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 337536	NM_014014.5(SNRNP200):c.5317C>T (p.Leu1773=)	LOC126806272, SNRNP200	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 33 +3 more	GBenign
Select item 426251	NM_014014.5(SNRNP200):c.4942C>T (p.Arg1648Trp)	SNRNP200 (R1648W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371828	NM_014014.5(SNRNP200):c.4892T>C (p.Leu1631Pro)	SNRNP200 (L1631P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943463	NM_014014.5(SNRNP200):c.4853G>A (p.Gly1618Asp)	SNRNP200 (G1618D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359742	NM_014014.5(SNRNP200):c.4780G>A (p.Glu1594Lys)	SNRNP200 (E1594K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309216	NM_014014.5(SNRNP200):c.4638_4639del (p.Tyr1547fs)	SNRNP200 (Y1547fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1371050	NM_014014.5(SNRNP200):c.4442T>C (p.Ile1481Thr)	SNRNP200 (I1481T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452152	NM_014014.5(SNRNP200):c.3268C>T (p.Arg1090Trp)	SNRNP200 (R1090W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708634	NM_014014.5(SNRNP200):c.3232A>T (p.Met1078Leu)	SNRNP200 (M1078L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304117	NM_014014.5(SNRNP200):c.3134_3135del (p.Pro1045fs)	SNRNP200 (P1045fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 871766	NM_014014.5(SNRNP200):c.3130G>T (p.Val1044Leu)	SNRNP200 (V1044L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363642	NM_014014.5(SNRNP200):c.3097G>A (p.Glu1033Lys)	SNRNP200 (E1033K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366022	NM_014014.5(SNRNP200):c.2762G>A (p.Gly921Asp)	SNRNP200 (G921D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302945	NM_014014.5(SNRNP200):c.2519G>A (p.Arg840His)	SNRNP200 (R840H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700943	NM_014014.5(SNRNP200):c.2068G>A (p.Val690Met)	SNRNP200 (V690M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365460	NM_014014.5(SNRNP200):c.1864G>A (p.Asp622Asn)	SNRNP200 (D622N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015012	NM_014014.5(SNRNP200):c.1627C>G (p.Pro543Ala)	SNRNP200 (P543A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2345367	NM_014014.5(SNRNP200):c.1585G>A (p.Gly529Ser)	SNRNP200 (G529S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 424346	NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile)	SNRNP200 (M527I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1878801	NM_014014.5(SNRNP200):c.1519G>A (p.Ala507Thr)	SNRNP200 (A507T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308715	NM_014014.5(SNRNP200):c.1436A>G (p.Lys479Arg)	SNRNP200 (K479R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452133	NM_014014.5(SNRNP200):c.1016G>A (p.Ser339Asn)	SNRNP200 (S339N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450579	NM_014014.5(SNRNP200):c.841G>A (p.Val281Met)	SNRNP200 (V281M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1360344	NM_014014.5(SNRNP200):c.821G>A (p.Arg274His)	SNRNP200 (R274H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 34