KANK3[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ACTL9, ADAMTS10 +132 more	Duplication	Autism	GLikely pathogenic
Select item 2343353	NM_198471.3(KANK3):c.2386G>A (p.Glu796Lys)	RPS28, KANK3 (E796K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399523	NM_198471.3(KANK3):c.2308G>A (p.Ala770Thr)	KANK3 (A770T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357261	NM_198471.3(KANK3):c.2233G>A (p.Val745Met)	KANK3 (V745M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358300	NM_198471.3(KANK3):c.2192C>G (p.Thr731Arg)	KANK3 (T731R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259250	NM_198471.3(KANK3):c.2150C>T (p.Ala717Val)	KANK3 (A717V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559441	NM_198471.3(KANK3):c.2123G>A (p.Arg708Gln)	KANK3 (R708Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360154	NM_198471.3(KANK3):c.2027T>C (p.Met676Thr)	KANK3 (M676T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242755	NM_198471.3(KANK3):c.1964G>A (p.Arg655Gln)	KANK3 (R655Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240161	NM_198471.3(KANK3):c.1924C>T (p.Leu642Phe)	KANK3 (L642F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407879	NM_198471.3(KANK3):c.1858G>T (p.Asp620Tyr)	KANK3 (D620Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296873	NM_198471.3(KANK3):c.1849A>T (p.Asn617Tyr)	KANK3 (N617Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559794	NM_198471.3(KANK3):c.1834C>A (p.Leu612Met)	KANK3 (L612M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381373	NM_198471.3(KANK3):c.1771C>T (p.Arg591Cys)	KANK3 (R591C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596740	NM_198471.3(KANK3):c.1729C>T (p.Arg577Cys)	KANK3 (R577C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235138	NM_198471.3(KANK3):c.1625C>T (p.Ala542Val)	KANK3 (A542V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326790	NM_198471.3(KANK3):c.1619A>T (p.Gln540Leu)	KANK3 (Q540L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2365297	NM_198471.3(KANK3):c.1601C>G (p.Ala534Gly)	KANK3 (A534G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274736	NM_198471.3(KANK3):c.1597G>A (p.Glu533Lys)	KANK3 (E533K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311052	NM_198471.3(KANK3):c.1586A>T (p.Asp529Val)	KANK3 (D529V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217644	NM_198471.3(KANK3):c.1363A>C (p.Thr455Pro)	KANK3 (T455P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623317	NM_198471.3(KANK3):c.1308C>G (p.Asp436Glu)	KANK3 (D436E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265217	NM_198471.3(KANK3):c.1267T>G (p.Ser423Ala)	KANK3 (S423A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225111	NM_198471.3(KANK3):c.1259A>T (p.Glu420Val)	KANK3 (E420V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223230	NM_198471.3(KANK3):c.1178C>T (p.Ala393Val)	KANK3 (A393V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511033	NM_198471.3(KANK3):c.1177G>A (p.Ala393Thr)	KANK3 (A393T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348867	NM_198471.3(KANK3):c.1099G>C (p.Gly367Arg)	KANK3 (G367R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335356	NM_198471.3(KANK3):c.1073T>G (p.Leu358Arg)	KANK3 (L358R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222823	NM_198471.3(KANK3):c.963G>C (p.Glu321Asp)	KANK3 (E321D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383608	NM_198471.3(KANK3):c.918G>C (p.Glu306Asp)	KANK3 (E306D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238565	NM_198471.3(KANK3):c.835C>A (p.Arg279Ser)	KANK3 (R279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459244	NM_198471.3(KANK3):c.803G>A (p.Arg268Gln)	KANK3, LOC130063417 (R268Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542156	NM_198471.3(KANK3):c.785G>A (p.Arg262His)	KANK3, LOC130063417 (R262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207747	NM_198471.3(KANK3):c.774G>C (p.Glu258Asp)	KANK3, LOC130063417 (E258D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549140	NM_198471.3(KANK3):c.772G>C (p.Glu258Gln)	KANK3, LOC130063417 (E258Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344469	NM_198471.3(KANK3):c.725A>T (p.Asp242Val)	KANK3, LOC130063417 (D242V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457844	NM_198471.3(KANK3):c.724G>C (p.Asp242His)	KANK3, LOC130063417 (D242H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336177	NM_198471.3(KANK3):c.703G>C (p.Gly235Arg)	KANK3 (G235R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219301	NM_198471.3(KANK3):c.697C>T (p.Pro233Ser)	KANK3 (P233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381953	NM_198471.3(KANK3):c.616A>C (p.Thr206Pro)	KANK3 (T206P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343151	NM_198471.3(KANK3):c.563A>C (p.Glu188Ala)	KANK3 (E188A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2469232	NM_198471.3(KANK3):c.472C>T (p.Pro158Ser)	KANK3, LOC130063418 (P158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222908	NM_198471.3(KANK3):c.458C>T (p.Pro153Leu)	KANK3, LOC130063418 (P153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546306	NM_198471.3(KANK3):c.448G>C (p.Ala150Pro)	KANK3, LOC130063418 (A150P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494543	NM_198471.3(KANK3):c.446G>T (p.Arg149Leu)	KANK3, LOC130063418 (R149L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514006	NM_198471.3(KANK3):c.412A>G (p.Ser138Gly)	KANK3, LOC130063418 (S138G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510559	NM_198471.3(KANK3):c.408G>C (p.Glu136Asp)	KANK3, LOC130063418 (E136D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480298	NM_198471.3(KANK3):c.371C>T (p.Pro124Leu)	KANK3, LOC130063418 (P124L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380797	NM_198471.3(KANK3):c.314T>C (p.Ile105Thr)	KANK3, LOC130063419 (I105T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473800	NM_198471.3(KANK3):c.104C>G (p.Ser35Trp)	LOC130063420, KANK3 (S35W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 58