KANK4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +253 more	Copy number loss	See cases	GPathogenic
Select item 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	LOC111501769, LOC121725026 +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
Select item 57304	GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3	ANGPTL3, ATG4C +44 more	Copy number gain	See cases	GUncertain significance
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 1233426	NM_181712.5(KANK4):c.*263C>T	KANK4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1253133	NM_181712.5(KANK4):c.2960C>T (p.Ala987Val)	KANK4 (A359V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2960654	NM_181712.5(KANK4):c.2959G>A (p.Ala987Thr)	KANK4 (A987T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1546353	NM_181712.5(KANK4):c.2958C>T (p.His986=)	KANK4	Single nucleotide variant (synonymous variant)	KANK4-related condition +1 more	GLikely benign
Select item 2190732	NM_181712.5(KANK4):c.2932G>C (p.Glu978Gln)	KANK4 (E350Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524284	NM_181712.5(KANK4):c.2930T>A (p.Met977Lys)	KANK4 (M349K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2955720	NM_181712.5(KANK4):c.2920C>T (p.Pro974Ser)	KANK4 (P974S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136841	NM_181712.5(KANK4):c.2908G>A (p.Ala970Thr)	KANK4 (A970T +1 more)	Single nucleotide variant (missense variant)	KANK4-related condition +1 more	GLikely benign
Select item 2055206	NM_181712.5(KANK4):c.2907C>T (p.Ile969=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1583742	NM_181712.5(KANK4):c.2891G>A (p.Arg964His)	KANK4 (R336H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1249680	NM_181712.5(KANK4):c.2884-81T>C	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288639	NM_181712.5(KANK4):c.2884-128C>T	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230975	NM_181712.5(KANK4):c.2884-247A>C	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241503	NM_181712.5(KANK4):c.2884-266_2884-265dup	KANK4	Duplication (intron variant)	not provided	GBenign
Select item 1229309	NM_181712.5(KANK4):c.2884-266dup	KANK4	Duplication (intron variant)	not provided	GBenign
Select item 1316765	NM_181712.5(KANK4):c.2884-252del	KANK4	Deletion (intron variant)	not provided	GLikely benign
Select item 1180050	NM_181712.5(KANK4):c.2884-272C>A	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279706	NM_181712.5(KANK4):c.2884-273C>T	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316244	NM_181712.5(KANK4):c.2883+167dup	KANK4	Duplication (intron variant)	not provided	GLikely benign
Select item 1231277	NM_181712.5(KANK4):c.2883+167del	KANK4	Deletion (intron variant)	not provided	GBenign
Select item 1279369	NM_181712.5(KANK4):c.2883+144del	KANK4	Deletion (intron variant)	not provided	GBenign
Select item 3049794	NM_181712.5(KANK4):c.2874G>A (p.Leu958=)	KANK4	Single nucleotide variant (synonymous variant)	KANK4-related condition	GLikely benign
Select item 2782065	NM_181712.5(KANK4):c.2856del (p.Ala953fs)	KANK4 (A953fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2369404	NM_181712.5(KANK4):c.2824G>A (p.Val942Met)	KANK4 (V942M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257820	NM_181712.5(KANK4):c.2803G>C (p.Val935Leu)	KANK4 (V307L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272744	NM_181712.5(KANK4):c.2781C>T (p.His927=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1660417	NM_181712.5(KANK4):c.2775G>A (p.Gln925=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3061700	NM_181712.5(KANK4):c.2745G>A (p.Leu915=)	KANK4	Single nucleotide variant (synonymous variant)	KANK4-related condition	GLikely benign
Select item 2956529	NM_181712.5(KANK4):c.2742G>A (p.Ala914=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023394	NM_181712.5(KANK4):c.2741C>T (p.Ala914Val)	KANK4 (A286V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2516773	NM_181712.5(KANK4):c.2741C>G (p.Ala914Gly)	KANK4 (A914G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2957990	NM_181712.5(KANK4):c.2732T>C (p.Met911Thr)	KANK4 (M283T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2226940	NM_181712.5(KANK4):c.2716C>T (p.His906Tyr)	KANK4 (H278Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2798085	NM_181712.5(KANK4):c.2706G>A (p.Leu902=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775883	NM_181712.5(KANK4):c.2697G>A (p.Ala899=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333232	NM_181712.5(KANK4):c.2696C>T (p.Ala899Val)	KANK4 (A899V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252309	NM_181712.5(KANK4):c.2686G>A (p.Gly896Ser)	KANK4 (G268S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326101	NM_181712.5(KANK4):c.2683-12_2683-10dup	KANK4	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 1243108	NM_181712.5(KANK4):c.2683-125A>G	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252512	NM_181712.5(KANK4):c.2683-126C>T	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2722227	NM_181712.5(KANK4):c.2667C>T (p.Asn889=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023368	NM_181712.5(KANK4):c.2626A>G (p.Met876Val)	KANK4 (M248V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722855	NM_181712.5(KANK4):c.2619T>C (p.Asn873=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047511	NM_181712.5(KANK4):c.2618A>G (p.Asn873Ser)	KANK4 (N245S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2345497	NM_181712.5(KANK4):c.2617A>G (p.Asn873Asp)	KANK4 (N873D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2713174	NM_181712.5(KANK4):c.2608G>A (p.Ala870Thr)	KANK4 (A242T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043550	NM_181712.5(KANK4):c.2594C>T (p.Thr865Ile)	KANK4 (T865I +1 more)	Single nucleotide variant (missense variant)	KANK4-related condition +1 more	GBenign
Select item 2163155	NM_181712.5(KANK4):c.2584G>A (p.Val862Ile)	KANK4 (V234I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052847	NM_181712.5(KANK4):c.2557C>T (p.His853Tyr)	KANK4 (H225Y +1 more)	Single nucleotide variant (missense variant)	KANK4-related condition	GLikely benign
Select item 2057533	NM_181712.5(KANK4):c.2541C>A (p.Gly847=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318321	NM_181712.5(KANK4):c.2540-73T>C	KANK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271322	NM_181712.5(KANK4):c.2540-218dup	KANK4	Duplication (intron variant)	not provided	GBenign
Select item 1264398	NM_181712.5(KANK4):c.2540-218_2540-217dup	KANK4	Duplication (intron variant)	not provided	GBenign
Select item 1228115	NM_181712.5(KANK4):c.2540-218_2540-216dup	KANK4	Duplication (intron variant)	not provided	GBenign
Select item 1180209	NM_181712.5(KANK4):c.2540-260T>C	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182860	NM_181712.5(KANK4):c.2539+168A>G	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182710	NM_181712.5(KANK4):c.2539+136G>A	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2095635	NM_181712.5(KANK4):c.2539+16A>G	KANK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239401	NM_181712.5(KANK4):c.2519T>C (p.Val840Ala)	KANK4 (V212A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2171124	NM_181712.5(KANK4):c.2472G>A (p.Gly824=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177531	NM_181712.5(KANK4):c.2470G>A (p.Gly824Arg)	KANK4 (G196R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270534	NM_181712.5(KANK4):c.2465A>G (p.His822Arg)	KANK4 (H194R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3032930	NM_181712.5(KANK4):c.2460C>G (p.Ala820=)	KANK4	Single nucleotide variant (synonymous variant)	KANK4-related condition	GLikely benign
Select item 1295500	NM_181712.5(KANK4):c.2442A>G (p.Lys814=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2993408	NM_181712.5(KANK4):c.2410G>A (p.Glu804Lys)	KANK4 (E804K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446389	NM_181712.5(KANK4):c.2401T>C (p.Tyr801His)	KANK4 (Y801H +1 more)	Single nucleotide variant (missense variant)	KANK4-related condition +1 more	GLikely benign
Select item 2544004	NM_181712.5(KANK4):c.2389G>A (p.Val797Met)	KANK4 (V169M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1262248	NM_181712.5(KANK4):c.2385C>T (p.Pro795=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2221007	NM_181712.5(KANK4):c.2369G>A (p.Arg790Gln)	KANK4 (R790Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1964389	NM_181712.5(KANK4):c.2368C>T (p.Arg790Trp)	KANK4 (R162W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517487	NM_181712.5(KANK4):c.2357G>A (p.Arg786His)	KANK4 (R786H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2783286	NM_181712.5(KANK4):c.2320-19G>A	KANK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295474	NM_181712.5(KANK4):c.2320-32C>T	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272869	NM_181712.5(KANK4):c.2319+234T>A	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286847	NM_181712.5(KANK4):c.2319+47G>T	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031211	NM_181712.5(KANK4):c.2314C>T (p.Leu772Phe)	KANK4 (L144F +1 more)	Single nucleotide variant (missense variant)	KANK4-related condition	GLikely benign
Select item 2909480	NM_181712.5(KANK4):c.2301_2302inv (p.Thr768Ala)	KANK4 (T140A +1 more)	Inversion (missense variant)	not provided	GLikely benign
Select item 1295514	NM_181712.5(KANK4):c.2302A>G (p.Thr768Ala)	KANK4 (T140A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2100117	NM_181712.5(KANK4):c.2289A>G (p.Pro763=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945566	NM_181712.5(KANK4):c.2267G>A (p.Arg756Gln)	KANK4 (R128Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738116	NM_181712.5(KANK4):c.2266C>T (p.Arg756Trp)	KANK4 (R128W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1534181	NM_181712.5(KANK4):c.2266C>A (p.Arg756=)	KANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003565	NM_181712.5(KANK4):c.2234A>G (p.Tyr745Cys)	KANK4 (Y117C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317758	NM_181712.5(KANK4):c.2232-170C>T	KANK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316446	NM_181712.5(KANK4):c.2231+274A>G	KANK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260044	NM_181712.5(KANK4):c.2231+133A>G	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271177	NM_181712.5(KANK4):c.2231+20C>T	KANK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2727868	NM_181712.5(KANK4):c.2231+3G>A	KANK4	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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