9303[HGNC] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3162256	NM_015191.3(SIK2):c.659C>T (p.Pro220Leu)	PPP2R1B, SIK2 (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394215	NM_015191.3(SIK2):c.742A>G (p.Ile248Val)	PPP2R1B, SIK2 (I248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602134	NM_015191.3(SIK2):c.836G>A (p.Arg279Lys)	PPP2R1B, SIK2 (R279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251398	NM_015191.3(SIK2):c.1162G>T (p.Ala388Ser)	PPP2R1B, SIK2 (A388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237591	NM_015191.3(SIK2):c.1193C>A (p.Ala398Asp)	PPP2R1B, SIK2 (A398D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290689	NM_015191.3(SIK2):c.1240G>A (p.Glu414Lys)	PPP2R1B, SIK2 (E414K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274366	NM_015191.3(SIK2):c.1274G>T (p.Gly425Val)	PPP2R1B, SIK2 (G425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162244	NM_015191.3(SIK2):c.1468A>G (p.Asn490Asp)	PPP2R1B, SIK2 (N490D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162245	NM_015191.3(SIK2):c.1642A>G (p.Met548Val)	PPP2R1B, SIK2 (M548V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716321	NM_015191.3(SIK2):c.1800A>G (p.Gln600=)	PPP2R1B, SIK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3162246	NM_015191.3(SIK2):c.1877C>T (p.Pro626Leu)	PPP2R1B, SIK2 (P626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162247	NM_015191.3(SIK2):c.1878G>A (p.Pro626=)	PPP2R1B, SIK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3162248	NM_015191.3(SIK2):c.1879G>C (p.Glu627Gln)	PPP2R1B, SIK2 (E627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244934	NM_015191.3(SIK2):c.1904C>T (p.Ala635Val)	PPP2R1B, SIK2 (A635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162249	NM_015191.3(SIK2):c.1958A>G (p.Gln653Arg)	PPP2R1B, SIK2 (Q653R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324056	NM_015191.3(SIK2):c.2015G>A (p.Arg672Gln)	PPP2R1B, SIK2 (R672Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290663	NM_015191.3(SIK2):c.2060C>T (p.Pro687Leu)	PPP2R1B, SIK2 (P687L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355482	NM_015191.3(SIK2):c.2114C>T (p.Pro705Leu)	PPP2R1B, SIK2 (P705L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324835	NM_015191.3(SIK2):c.2162G>A (p.Arg721Gln)	PPP2R1B, SIK2 (R721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244485	NM_015191.3(SIK2):c.2257C>T (p.Leu753Phe)	PPP2R1B, SIK2 (L753F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342749	NM_015191.3(SIK2):c.2264G>A (p.Arg755His)	PPP2R1B, SIK2 (R755H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162250	NM_015191.3(SIK2):c.2300C>T (p.Pro767Leu)	PPP2R1B, SIK2 (P767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162251	NM_015191.3(SIK2):c.2315A>T (p.Gln772Leu)	PPP2R1B, SIK2 (Q772L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523156	NM_015191.3(SIK2):c.2347G>A (p.Glu783Lys)	PPP2R1B, SIK2 (E783K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460113	NM_015191.3(SIK2):c.2375G>A (p.Ser792Asn)	PPP2R1B, SIK2 (S792N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454289	NM_015191.3(SIK2):c.2434C>G (p.Pro812Ala)	PPP2R1B, SIK2 (P812A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323510	NM_015191.3(SIK2):c.2444C>T (p.Pro815Leu)	PPP2R1B, SIK2 (P815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285600	NM_015191.3(SIK2):c.2479C>A (p.Pro827Thr)	PPP2R1B, SIK2 (P827T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162252	NM_015191.3(SIK2):c.2485C>A (p.Pro829Thr)	PPP2R1B, SIK2 (P829T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333865	NM_015191.3(SIK2):c.2560G>A (p.Ala854Thr)	PPP2R1B, SIK2 (A854T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273779	NM_015191.3(SIK2):c.2575C>G (p.Pro859Ala)	PPP2R1B, SIK2 (P859A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162253	NM_015191.3(SIK2):c.2590C>A (p.Pro864Thr)	PPP2R1B, SIK2 (P864T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348148	NM_015191.3(SIK2):c.2593T>G (p.Cys865Gly)	PPP2R1B, SIK2 (C865G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162254	NM_015191.3(SIK2):c.2622G>C (p.Gln874His)	PPP2R1B, SIK2 (Q874H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162255	NM_015191.3(SIK2):c.2686G>A (p.Asp896Asn)	PPP2R1B, SIK2 (D896N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246910	NM_015191.3(SIK2):c.2743G>C (p.Val915Leu)	PPP2R1B, SIK2 (V915L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041075	NM_015191.3(SIK2):c.*2829T>C	PPP2R1B, SIK2	Single nucleotide variant (3 prime UTR variant)	PPP2R1B-related disorder	GLikely benign
Select item 3039930	NM_015191.3(SIK2):c.*2840T>A	PPP2R1B, SIK2 (D603V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	PPP2R1B-related disorder	GLikely benign
Select item 3217755	NM_015191.3(SIK2):c.*2909C>T	PPP2R1B, SIK2 (R644H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2483798	NM_015191.3(SIK2):c.*2910G>A	PPP2R1B, SIK2 (R580C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2642364	NM_181700.2(PPP2R1B):c.1675A>T (p.Asn559Tyr)	PPP2R1B (N559Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3057072	NM_181700.2(PPP2R1B):c.1633G>C (p.Val545Leu)	PPP2R1B (V545L +1 more)	Single nucleotide variant (missense variant)	PPP2R1B-related disorder	GBenign
Select item 3034260	NM_002716.5(PPP2R1B):c.1783A>G (p.Ile595Val)	PPP2R1B (I468V +3 more)	Single nucleotide variant (missense variant)	PPP2R1B-related disorder	GLikely benign
Select item 2278873	NM_002716.5(PPP2R1B):c.1774C>G (p.Gln592Glu)	PPP2R1B (Q465E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051639	NM_002716.5(PPP2R1B):c.1697+8T>G	PPP2R1B	Single nucleotide variant (intron variant)	PPP2R1B-related disorder	GLikely benign
Select item 2232361	NM_002716.5(PPP2R1B):c.1631A>G (p.Gln544Arg)	PPP2R1B (Q480R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246026	NM_002716.5(PPP2R1B):c.1592A>T (p.Lys531Met)	PPP2R1B (K531M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294085	NM_002716.5(PPP2R1B):c.1577A>T (p.Gln526Leu)	PPP2R1B (Q481L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217754	NM_002716.5(PPP2R1B):c.1547G>A (p.Cys516Tyr)	PPP2R1B (C389Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217753	NM_002716.5(PPP2R1B):c.1507A>G (p.Asn503Asp)	PPP2R1B (N439D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402917	NM_002716.5(PPP2R1B):c.1480A>G (p.Ile494Val)	PPP2R1B (I494V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596752	NM_002716.5(PPP2R1B):c.1448A>C (p.Gln483Pro)	PPP2R1B (Q483P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251500	NM_002716.5(PPP2R1B):c.1403A>G (p.Tyr468Cys)	PPP2R1B (Y404C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408431	NM_002716.5(PPP2R1B):c.1196A>G (p.Asn399Ser)	PPP2R1B (N354S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269128	NM_002716.5(PPP2R1B):c.1178G>A (p.Arg393His)	PPP2R1B (R393H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388857	NM_002716.5(PPP2R1B):c.1174G>A (p.Val392Ile)	PPP2R1B (V328I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458228	NM_002716.5(PPP2R1B):c.1159G>A (p.Asp387Asn)	PPP2R1B (D323N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475081	NM_002716.5(PPP2R1B):c.1085T>C (p.Met362Thr)	PPP2R1B (M298T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216602	NM_002716.5(PPP2R1B):c.1064C>T (p.Ser355Leu)	PPP2R1B (S228L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303660	NM_002716.5(PPP2R1B):c.1019C>T (p.Pro340Leu)	PPP2R1B (P340L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217756	NM_002716.5(PPP2R1B):c.997A>G (p.Ile333Val)	PPP2R1B (I206V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311334	NM_002716.5(PPP2R1B):c.950A>G (p.Lys317Arg)	PPP2R1B (K253R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309051	NM_002716.5(PPP2R1B):c.892G>C (p.Ala298Pro)	PPP2R1B (A171P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521352	NM_002716.5(PPP2R1B):c.694G>T (p.Val232Leu)	PPP2R1B (V105L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267733	NM_002716.5(PPP2R1B):c.584G>A (p.Arg195His)	PPP2R1B (R131H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411928	NM_002716.5(PPP2R1B):c.436C>T (p.Arg146Cys)	PPP2R1B (R82C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591508	NM_002716.5(PPP2R1B):c.355A>G (p.Lys119Glu)	PPP2R1B (K119E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 6621	NM_002716.5(PPP2R1B):c.269G>A (p.Gly90Asp)	PPP2R1B (G90D)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma	GPathogenic
Select item 2642365	NM_002716.5(PPP2R1B):c.216T>C (p.Tyr72=)	PPP2R1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3217752	NM_002716.5(PPP2R1B):c.148A>G (p.Ile50Val)	PPP2R1B (I50V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205014	NM_002716.5(PPP2R1B):c.101A>G (p.Asn34Ser)	PPP2R1B (N34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210877	NM_002716.5(PPP2R1B):c.40G>A (p.Ala14Thr)	PPP2R1B (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456061	NM_002716.5(PPP2R1B):c.20T>C (p.Leu7Pro)	PPP2R1B (L7P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608690	NM_002716.5(PPP2R1B):c.19C>T (p.Leu7Phe)	PPP2R1B (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	ALG9, BTG4 +20 more	Deletion	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	CRYAB, DIXDC1 +20 more	Deletion	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	ALG9, BCO2 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1003647	NC_000011.9:g.(?_111171709)_(111965694_?)dup	PIH1D2, POU2AF1 +20 more	Duplication	Cowden syndrome 3 +3 more	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	ALG9, BTG4 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 95