24796[HGNC] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 3287331	NM_198471.3(KANK3):c.2389T>C (p.Ser797Pro)	KANK3, RPS28 (S797P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343353	NM_198471.3(KANK3):c.2386G>A (p.Glu796Lys)	KANK3, RPS28 (E796K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112626	NM_198471.3(KANK3):c.2350G>T (p.Ala784Ser)	KANK3 (A784S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399523	NM_198471.3(KANK3):c.2308G>A (p.Ala770Thr)	KANK3 (A770T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357261	NM_198471.3(KANK3):c.2233G>A (p.Val745Met)	KANK3 (V745M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287328	NM_198471.3(KANK3):c.2198T>C (p.Leu733Pro)	KANK3 (L733P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358300	NM_198471.3(KANK3):c.2192C>G (p.Thr731Arg)	KANK3 (T731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112625	NM_198471.3(KANK3):c.2180C>A (p.Ala727Glu)	KANK3 (A727E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259250	NM_198471.3(KANK3):c.2150C>T (p.Ala717Val)	KANK3 (A717V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559441	NM_198471.3(KANK3):c.2123G>A (p.Arg708Gln)	KANK3 (R708Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287323	NM_198471.3(KANK3):c.2084C>T (p.Thr695Met)	KANK3 (T695M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360154	NM_198471.3(KANK3):c.2027T>C (p.Met676Thr)	KANK3 (M676T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242755	NM_198471.3(KANK3):c.1964G>A (p.Arg655Gln)	KANK3 (R655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240161	NM_198471.3(KANK3):c.1924C>T (p.Leu642Phe)	KANK3 (L642F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407879	NM_198471.3(KANK3):c.1858G>T (p.Asp620Tyr)	KANK3 (D620Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296873	NM_198471.3(KANK3):c.1849A>T (p.Asn617Tyr)	KANK3 (N617Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559794	NM_198471.3(KANK3):c.1834C>A (p.Leu612Met)	KANK3 (L612M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381373	NM_198471.3(KANK3):c.1771C>T (p.Arg591Cys)	KANK3 (R591C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287330	NM_198471.3(KANK3):c.1751T>A (p.Phe584Tyr)	KANK3 (F584Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112622	NM_198471.3(KANK3):c.1735G>A (p.Val579Met)	KANK3 (V579M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596740	NM_198471.3(KANK3):c.1729C>T (p.Arg577Cys)	KANK3 (R577C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235138	NM_198471.3(KANK3):c.1625C>T (p.Ala542Val)	KANK3 (A542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326790	NM_198471.3(KANK3):c.1619A>T (p.Gln540Leu)	KANK3 (Q540L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365297	NM_198471.3(KANK3):c.1601C>G (p.Ala534Gly)	KANK3 (A534G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274736	NM_198471.3(KANK3):c.1597G>A (p.Glu533Lys)	KANK3 (E533K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311052	NM_198471.3(KANK3):c.1586A>T (p.Asp529Val)	KANK3 (D529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287319	NM_198471.3(KANK3):c.1502G>A (p.Gly501Asp)	KANK3 (G501D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287320	NM_198471.3(KANK3):c.1454C>A (p.Ala485Asp)	KANK3 (A485D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287333	NM_198471.3(KANK3):c.1390C>T (p.Pro464Ser)	KANK3 (P464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217644	NM_198471.3(KANK3):c.1363A>C (p.Thr455Pro)	KANK3 (T455P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112620	NM_198471.3(KANK3):c.1355G>C (p.Arg452Thr)	KANK3 (R452T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623317	NM_198471.3(KANK3):c.1308C>G (p.Asp436Glu)	KANK3 (D436E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265217	NM_198471.3(KANK3):c.1267T>G (p.Ser423Ala)	KANK3 (S423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225111	NM_198471.3(KANK3):c.1259A>T (p.Glu420Val)	KANK3 (E420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112619	NM_198471.3(KANK3):c.1192C>T (p.Arg398Cys)	KANK3 (R398C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112618	NM_198471.3(KANK3):c.1181G>C (p.Arg394Pro)	KANK3 (R394P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223230	NM_198471.3(KANK3):c.1178C>T (p.Ala393Val)	KANK3 (A393V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511033	NM_198471.3(KANK3):c.1177G>A (p.Ala393Thr)	KANK3 (A393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287321	NM_198471.3(KANK3):c.1175G>A (p.Gly392Glu)	KANK3 (G392E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112617	NM_198471.3(KANK3):c.1151A>C (p.Glu384Ala)	KANK3 (E384A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287326	NM_198471.3(KANK3):c.1135C>G (p.Leu379Val)	KANK3 (L379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112615	NM_198471.3(KANK3):c.1133A>G (p.Glu378Gly)	KANK3 (E378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348867	NM_198471.3(KANK3):c.1099G>C (p.Gly367Arg)	KANK3 (G367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335356	NM_198471.3(KANK3):c.1073T>G (p.Leu358Arg)	KANK3 (L358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222823	NM_198471.3(KANK3):c.963G>C (p.Glu321Asp)	KANK3 (E321D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383608	NM_198471.3(KANK3):c.918G>C (p.Glu306Asp)	KANK3 (E306D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287332	NM_198471.3(KANK3):c.916G>C (p.Glu306Gln)	KANK3 (E306Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112636	NM_198471.3(KANK3):c.892C>T (p.Pro298Ser)	KANK3 (P298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112635	NM_198471.3(KANK3):c.890C>T (p.Thr297Met)	KANK3 (T297M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112634	NM_198471.3(KANK3):c.874G>T (p.Gly292Trp)	KANK3 (G292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112633	NM_198471.3(KANK3):c.870G>T (p.Glu290Asp)	KANK3 (E290D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238565	NM_198471.3(KANK3):c.835C>A (p.Arg279Ser)	KANK3 (R279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459244	NM_198471.3(KANK3):c.803G>A (p.Arg268Gln)	KANK3, LOC130063417 (R268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542156	NM_198471.3(KANK3):c.785G>A (p.Arg262His)	KANK3, LOC130063417 (R262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207747	NM_198471.3(KANK3):c.774G>C (p.Glu258Asp)	KANK3, LOC130063417 (E258D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549140	NM_198471.3(KANK3):c.772G>C (p.Glu258Gln)	KANK3, LOC130063417 (E258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344469	NM_198471.3(KANK3):c.725A>T (p.Asp242Val)	KANK3, LOC130063417 (D242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457844	NM_198471.3(KANK3):c.724G>C (p.Asp242His)	KANK3, LOC130063417 (D242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336177	NM_198471.3(KANK3):c.703G>C (p.Gly235Arg)	KANK3 (G235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219301	NM_198471.3(KANK3):c.697C>T (p.Pro233Ser)	KANK3 (P233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112631	NM_198471.3(KANK3):c.682C>A (p.Arg228Ser)	KANK3 (R228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287324	NM_198471.3(KANK3):c.677C>T (p.Ala226Val)	KANK3 (A226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287327	NM_198471.3(KANK3):c.626A>C (p.Glu209Ala)	KANK3 (E209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381953	NM_198471.3(KANK3):c.616A>C (p.Thr206Pro)	KANK3 (T206P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343151	NM_198471.3(KANK3):c.563A>C (p.Glu188Ala)	KANK3 (E188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112630	NM_198471.3(KANK3):c.562G>A (p.Glu188Lys)	KANK3 (E188K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649196	NM_198471.3(KANK3):c.537C>T (p.Gly179=)	KANK3, LOC130063418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334983	NM_198471.3(KANK3):c.535G>C (p.Gly179Arg)	KANK3, LOC130063418 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112629	NM_198471.3(KANK3):c.488G>T (p.Gly163Val)	KANK3, LOC130063418 (G163V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3287325	NM_198471.3(KANK3):c.484C>T (p.Arg162Cys)	KANK3, LOC130063418 (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469232	NM_198471.3(KANK3):c.472C>T (p.Pro158Ser)	KANK3, LOC130063418 (P158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222908	NM_198471.3(KANK3):c.458C>T (p.Pro153Leu)	KANK3, LOC130063418 (P153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546306	NM_198471.3(KANK3):c.448G>C (p.Ala150Pro)	KANK3, LOC130063418 (A150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494543	NM_198471.3(KANK3):c.446G>T (p.Arg149Leu)	KANK3, LOC130063418 (R149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112627	NM_198471.3(KANK3):c.428T>G (p.Leu143Arg)	KANK3, LOC130063418 (L143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514006	NM_198471.3(KANK3):c.412A>G (p.Ser138Gly)	KANK3, LOC130063418 (S138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287329	NM_198471.3(KANK3):c.410C>G (p.Thr137Ser)	KANK3, LOC130063418 (T137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510559	NM_198471.3(KANK3):c.408G>C (p.Glu136Asp)	KANK3, LOC130063418 (E136D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480298	NM_198471.3(KANK3):c.371C>T (p.Pro124Leu)	KANK3, LOC130063418 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380797	NM_198471.3(KANK3):c.314T>C (p.Ile105Thr)	KANK3, LOC130063419 (I105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112624	NM_198471.3(KANK3):c.199C>T (p.Pro67Ser)	KANK3 (P67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112621	NM_198471.3(KANK3):c.155T>C (p.Ile52Thr)	KANK3, LOC130063420 (I52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473800	NM_198471.3(KANK3):c.104C>G (p.Ser35Trp)	KANK3, LOC130063420 (S35W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 90