1463[HGNC] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 3064548	NM_001367534.1(CAMK2G):c.1757C>T (p.Pro586Leu)	CAMK2G (P324L +22 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 1686536	NM_001367534.1(CAMK2G):c.1735T>A (p.Cys579Ser)	CAMK2G (C317S +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1706117	NM_001367534.1(CAMK2G):c.1687C>T (p.Arg563Trp)	CAMK2G (R301W +22 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640591	NM_001367534.1(CAMK2G):c.1638G>A (p.Gln546=)	CAMK2G	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3136794	NM_001367534.1(CAMK2G):c.1591G>A (p.Val531Met)	CAMK2G (V372M +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2571725	NM_001367534.1(CAMK2G):c.1564A>G (p.Thr522Ala)	CAMK2G (T260A +22 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 873494	NM_001367534.1(CAMK2G):c.1534+153G>A	CAMK2G (D366N +12 more)	Single nucleotide variant (missense variant +2 more)	CAMK2G-related syndromic intellectual disability	GUncertain significance
Select item 2442141	NM_001367534.1(CAMK2G):c.1534+149C>A	CAMK2G (C246* +12 more)	Single nucleotide variant (nonsense +2 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 1703881	NM_001367534.1(CAMK2G):c.1534+1G>A	CAMK2G (R197H +12 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3053058	NM_001367534.1(CAMK2G):c.1458C>T (p.Gly486=)	CAMK2G	Single nucleotide variant (synonymous variant +2 more)	CAMK2G-related disorder	GBenign
Select item 2502105	NM_001367534.1(CAMK2G):c.1444A>G (p.Ile482Val)	CAMK2G (I167V +25 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2640592	NM_001367534.1(CAMK2G):c.1439C>T (p.Thr480Met)	CAMK2G (T165M +25 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1309514	NM_001367534.1(CAMK2G):c.1428del (p.Phe476fs)	CAMK2G (F161fs +25 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3357607	NM_001367534.1(CAMK2G):c.1411A>G (p.Ile471Val)	CAMK2G (I156V +25 more)	Single nucleotide variant (missense variant +2 more)	CAMK2G-related disorder	GUncertain significance
Select item 2360142	NM_001367534.1(CAMK2G):c.1409C>A (p.Ala470Asp)	CAMK2G (A377D +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2640593	NM_001367534.1(CAMK2G):c.1381A>T (p.Ile461Phe)	CAMK2G (I146F +25 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2240307	NM_001367534.1(CAMK2G):c.1361C>G (p.Ala454Gly)	CAMK2G (A422G +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206079	NM_001367534.1(CAMK2G):c.1318C>T (p.Pro440Ser)	CAMK2G (P281S +13 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3136793	NM_001367534.1(CAMK2G):c.1295G>A (p.Arg432Gln)	CAMK2G (R170Q +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3336474	NM_001367534.1(CAMK2G):c.1278C>G (p.Ser426Arg)	CAMK2G (A385G +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136792	NM_001367534.1(CAMK2G):c.1262G>A (p.Arg421His)	CAMK2G (R262H +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1712530	NM_001367534.1(CAMK2G):c.1258C>T (p.Leu420Phe)	CAMK2G (L158F +13 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3234994	NM_001367534.1(CAMK2G):c.1256C>T (p.Pro419Leu)	CAMK2G (P157L +13 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 2430400	NM_001367534.1(CAMK2G):c.1237G>A (p.Glu413Lys)	CAMK2G (E136K +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3068000	NM_001367534.1(CAMK2G):c.1236T>A (p.Asp412Glu)	CAMK2G (D135E +16 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 59	GLikely pathogenic
Select item 2486128	NM_001367534.1(CAMK2G):c.1233A>T (p.Glu411Asp)	CAMK2G (E379D +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572782	NM_001367534.1(CAMK2G):c.1223C>T (p.Thr408Ile)	CAMK2G (T131I +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1331162	NM_001367534.1(CAMK2G):c.1220A>G (p.Asn407Ser)	CAMK2G (N130S +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3029340	NM_001367534.1(CAMK2G):c.1210G>T (p.Glu404Ter)	CAMK2G (E127* +16 more)	Single nucleotide variant (nonsense +1 more)	CAMK2G-related disorder	GUncertain significance
Select item 3263013	NM_001367534.1(CAMK2G):c.1187C>G (p.Thr396Arg)	CAMK2G (T134R +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136791	NM_001367534.1(CAMK2G):c.1184C>A (p.Ala395Asp)	CAMK2G (A133D +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136790	NM_001367534.1(CAMK2G):c.1183G>A (p.Ala395Thr)	CAMK2G (A118T +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251970	NM_001367534.1(CAMK2G):c.1181A>G (p.Asn394Ser)	CAMK2G (N235S +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580703	NM_001367534.1(CAMK2G):c.1180A>G (p.Asn394Asp)	CAMK2G (N117D +15 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3263012	NM_001367534.1(CAMK2G):c.1148C>T (p.Thr383Met)	CAMK2G (T269M +7 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3025623	NM_001367534.1(CAMK2G):c.1135G>A (p.Ala379Thr)	CAMK2G (A117T +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2595900	NM_001367534.1(CAMK2G):c.1105A>C (p.Asn369His)	CAMK2G (N348H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2499700	NM_001367534.1(CAMK2G):c.1103A>G (p.Lys368Arg)	CAMK2G (K106R +7 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1701140	NM_001367534.1(CAMK2G):c.1044_1045delinsTA (p.Gly349Ser)	CAMK2G (G106S +7 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1335041	NM_001367534.1(CAMK2G):c.1044C>T (p.Gly348=)	CAMK2G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640594	NM_001367534.1(CAMK2G):c.1038G>A (p.Ser346=)	CAMK2G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1687297	NM_001367534.1(CAMK2G):c.969dup (p.Ala324fs)	CAMK2G (A242fs +2 more)	Duplication (frameshift variant +2 more)	Intellectual developmental disorder 59	GLikely pathogenic
Select item 3034327	NM_001367534.1(CAMK2G):c.918G>A (p.Thr306=)	CAMK2G	Single nucleotide variant (synonymous variant +1 more)	CAMK2G-related disorder	GLikely benign
Select item 3057701	NM_001367534.1(CAMK2G):c.903+9C>T	CAMK2G	Single nucleotide variant (intron variant)	CAMK2G-related disorder	GLikely benign
Select item 2580804	NM_001367534.1(CAMK2G):c.889C>T (p.Arg297Trp)	CAMK2G (R193W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 39975	NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)	CAMK2G (R292P +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 59 +4 more	GPathogenic/Likely pathogenic
Select item 1687265	NM_001367534.1(CAMK2G):c.868T>C (p.Cys290Arg)	CAMK2G (C186R +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 3052207	NM_001367534.1(CAMK2G):c.810G>A (p.Pro270=)	CAMK2G	Single nucleotide variant (synonymous variant +1 more)	CAMK2G-related disorder	GLikely benign
Select item 3136795	NM_001367534.1(CAMK2G):c.785C>T (p.Thr262Met)	CAMK2G (T254M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801083	NM_001367534.1(CAMK2G):c.730G>A (p.Glu244Lys)	CAMK2G (E140K +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1311455	NM_001367534.1(CAMK2G):c.730G>T (p.Glu244Ter)	CAMK2G (E140* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 638296	NM_001367534.1(CAMK2G):c.719C>T (p.Thr240Met)	CAMK2G (T240M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2627820	NM_001367534.1(CAMK2G):c.715G>A (p.Asp239Asn)	CAMK2G (D135N +4 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2575529	NM_001367534.1(CAMK2G):c.707C>T (p.Pro236Leu)	CAMK2G (P132L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1192574	NM_001367534.1(CAMK2G):c.696+102_696+103insA	CAMK2G	Insertion (intron variant)	Intellectual developmental disorder 59	GBenign
Select item 1192575	NM_001367534.1(CAMK2G):c.696+49del	CAMK2G	Deletion (intron variant)	Intellectual developmental disorder 59	GBenign
Select item 1710167	NM_001367534.1(CAMK2G):c.676A>G (p.Ile226Val)	CAMK2G (I122V +3 more)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder 59	GLikely pathogenic
Select item 2496022	NM_001367534.1(CAMK2G):c.665T>G (p.Leu222Arg)	CAMK2G (L222R +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2265525	NM_001367534.1(CAMK2G):c.644G>C (p.Trp215Ser)	CAMK2G (W111S +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1695473	NM_001367534.1(CAMK2G):c.591C>G (p.Ile197Met)	CAMK2G (I115M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1686537	NM_001367534.1(CAMK2G):c.449G>A (p.Gly150Asp)	CAMK2G (G142D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537297	NM_001367534.1(CAMK2G):c.351A>G (p.Ile117Met)	CAMK2G (I13M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603287	NM_001367534.1(CAMK2G):c.343C>A (p.His115Asn)	CAMK2G (H33N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 440934	NM_001367534.1(CAMK2G):c.286G>A (p.Gly96Arg)	CAMK2G (G96R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	Gnot provided
Select item 1192576	NM_001367534.1(CAMK2G):c.275+69A>G	CAMK2G	Single nucleotide variant (intron variant)	Intellectual developmental disorder 59 +1 more	GBenign
Select item 1804208	NM_001367534.1(CAMK2G):c.269T>C (p.Phe90Ser)	CAMK2G (F82S +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1810720	NM_001367534.1(CAMK2G):c.265G>A (p.Val89Met)	CAMK2G (V81M +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1192577	NM_001367534.1(CAMK2G):c.161-110A>G	CAMK2G	Single nucleotide variant (intron variant)	Intellectual developmental disorder 59 +1 more	GBenign
Select item 1192578	NM_001367534.1(CAMK2G):c.147G>A (p.Lys49=)	CAMK2G	Single nucleotide variant (synonymous variant +2 more)	Intellectual developmental disorder 59 +1 more	GBenign
Select item 3045737	NM_001367534.1(CAMK2G):c.141C>G (p.Thr47=)	CAMK2G	Single nucleotide variant (synonymous variant +2 more)	CAMK2G-related disorder	GLikely benign
Select item 3236153	NM_001367534.1(CAMK2G):c.83T>C (p.Val28Ala)	CAMK2G (V28A)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 2640595	NM_001367534.1(CAMK2G):c.26G>A (p.Arg9His)	CAMK2G, LOC130004098 (R9H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3043719	NM_001367534.1(CAMK2G):c.15C>T (p.Ala5=)	CAMK2G	Single nucleotide variant (synonymous variant +2 more)	CAMK2G-related disorder	GBenign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2577199	NC_000010.10:g.(75585106_75597225)_(75634350_?)dup	CAMK2G	Duplication	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 688655	GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1	AGAP5, C10orf55 +12 more	Copy number loss	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442888	GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3	ADK, AGAP5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395153	GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1	ADK, AP3M1 +16 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 91