"GeneDx"[submitter] AND "KANK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 59050	GRCh38/hg38 9p24.3(chr9:313298-472145)x1	DOCK8, KANK1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 145783	GRCh38/hg38 9p24.3(chr9:329684-500525)x3	DOCK8, KANK1 +2 more	Copy number gain	See cases	GBenign
Select item 58461	GRCh38/hg38 9p24.3(chr9:472086-602792)x3	KANK1, LOC130001443	Copy number gain	See cases	GUncertain significance
Select item 145908	GRCh38/hg38 9p24.3(chr9:534531-805606)x3	KANK1, LOC124210605 +3 more	Copy number gain	See cases	GLikely benign
Select item 1257104	NM_015158.5(KANK1):c.-83-321C>T	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281222	NM_015158.5(KANK1):c.-83-319T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317436	NM_015158.5(KANK1):c.-83-244A>G	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221253	NM_015158.5(KANK1):c.-83-198T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243663	NM_015158.5(KANK1):c.-83-186T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279682	NM_015158.5(KANK1):c.-83-149A>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261637	NM_015158.5(KANK1):c.-83-145A>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261697	NM_015158.5(KANK1):c.-83-70A>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228050	NM_015158.5(KANK1):c.-83-53_-83-52insG	KANK1	Insertion (intron variant)	not provided	GBenign
Select item 1238818	NM_015158.5(KANK1):c.-19T>C	KANK1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1242096	NM_015158.5(KANK1):c.37+80G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259934	NM_015158.5(KANK1):c.37+132A>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316623	NM_015158.5(KANK1):c.37+202C>G	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316374	NM_015158.5(KANK1):c.38-178A>C	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279944	NM_015158.5(KANK1):c.38-174_38-163del	KANK1	Deletion (intron variant)	not provided	GBenign
Select item 1279389	NM_015158.5(KANK1):c.38-174del	KANK1	Deletion (intron variant)	not provided	GBenign
Select item 1239643	NM_015158.5(KANK1):c.38-174_38-164del	KANK1	Deletion (intron variant)	not provided	GBenign
Select item 1225206	NM_015158.5(KANK1):c.38-174C>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290183	NM_015158.5(KANK1):c.38-164_38-162del	KANK1	Deletion (intron variant)	not provided	GBenign
Select item 1289973	NM_015158.5(KANK1):c.38-164_38-163del	KANK1	Deletion (intron variant)	not provided	GBenign
Select item 1283996	NM_015158.5(KANK1):c.38-164del	KANK1	Deletion (intron variant)	not provided	GBenign
Select item 1247847	NM_015158.5(KANK1):c.38-164C>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317428	NM_015158.5(KANK1):c.38-151C>T	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317602	NM_015158.5(KANK1):c.52A>G (p.Ile18Val)	KANK1 (I18V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 377350	NM_015158.5(KANK1):c.149A>T (p.Asp50Val)	KANK1 (D50V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 1168333	NM_015158.5(KANK1):c.200G>A (p.Arg67Gln)	KANK1 (R67Q)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 711505	NM_015158.5(KANK1):c.206C>T (p.Pro69Leu)	KANK1 (P69L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 783538	NM_015158.5(KANK1):c.346A>G (p.Thr116Ala)	KANK1 (T116A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 450775	NM_015158.5(KANK1):c.385C>T (p.Leu129Phe)	KANK1 (L129F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 782523	NM_015158.5(KANK1):c.593C>T (p.Ser198Phe)	KANK1 (S198F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 733223	NM_015158.5(KANK1):c.624C>G (p.Ala208=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +1 more	GBenign/Likely benign
Select item 1168334	NM_015158.5(KANK1):c.630C>G (p.His210Gln)	KANK1 (H210Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 445532	NM_015158.5(KANK1):c.633G>C (p.Gln211His)	KANK1 (Q211H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 708378	NM_015158.5(KANK1):c.804C>T (p.Ala268=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 523998	NM_015158.5(KANK1):c.876dup (p.Val293fs)	KANK1 (V293fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1166681	NM_015158.5(KANK1):c.1294G>C (p.Glu432Gln)	KANK1 (E274Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1168335	NM_015158.5(KANK1):c.1300A>C (p.Arg434=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1169345	NM_015158.5(KANK1):c.1371G>C (p.Leu457=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708379	NM_015158.5(KANK1):c.1377G>A (p.Gln459=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1169346	NM_015158.5(KANK1):c.1390T>G (p.Ser464Ala)	KANK1 (S306A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 504209	NM_015158.5(KANK1):c.1469_1470del (p.Gln490fs)	KANK1 (Q490fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 708380	NM_015158.5(KANK1):c.1517T>C (p.Met506Thr)	KANK1 (M348T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 452378	NM_015158.5(KANK1):c.1579G>A (p.Val527Ile)	KANK1 (V527I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426868	NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr)	KANK1 (C551Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 445752	NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly)	KANK1 (E587G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 451088	NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn)	KANK1 (S604N +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +1 more	GUncertain significance
Select item 1166682	NM_015158.5(KANK1):c.1833C>T (p.Asn611=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1164524	NM_015158.5(KANK1):c.1908C>T (p.Asp636=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1166350	NM_015158.5(KANK1):c.2000G>A (p.Arg667His)	KANK1 (R509H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 751947	NM_015158.5(KANK1):c.2113A>G (p.Lys705Glu)	KANK1 (K705E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1166351	NM_015158.5(KANK1):c.2541A>G (p.Glu847=)	KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1225765	NM_015158.5(KANK1):c.2698+112A>T	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247438	NM_015158.5(KANK1):c.2698+304T>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244616	NM_015158.5(KANK1):c.2699-293G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239481	NM_015158.5(KANK1):c.2699-270_2699-269insG	KANK1	Insertion (intron variant)	not provided	GBenign
Select item 1345006	NM_015158.5(KANK1):c.2699-85T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286995	NM_015158.5(KANK1):c.2699-85_2699-84del	KANK1	Deletion (intron variant)	not provided	GBenign
Select item 1282657	NM_015158.5(KANK1):c.2699-83A>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271434	NM_015158.5(KANK1):c.2699-79G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168336	NM_015158.5(KANK1):c.2702A>G (p.Asn901Ser)	KANK1 (N743S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718875	NM_015158.5(KANK1):c.2725T>G (p.Cys909Gly)	KANK1 (C751G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 445945	NM_015158.5(KANK1):c.2896+18C>T	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1317308	NM_015158.5(KANK1):c.2896+89T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257819	NM_015158.5(KANK1):c.2896+90T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252660	NM_015158.5(KANK1):c.2896+212G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236399	NM_015158.5(KANK1):c.2896+225T>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183083	NM_015158.5(KANK1):c.2896+242G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248130	NM_015158.5(KANK1):c.2897-341G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243443	NM_015158.5(KANK1):c.3005+66A>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318074	NM_015158.5(KANK1):c.3005+83C>T	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1345007	NM_015158.5(KANK1):c.3005+134G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233877	NM_015158.5(KANK1):c.3005+154G>T	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175597	NM_015158.5(KANK1):c.3006-323G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241974	NM_015158.5(KANK1):c.3006-162C>T	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281850	NM_015158.5(KANK1):c.3006-159C>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259790	NM_015158.5(KANK1):c.3006-76T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166352	NM_015158.5(KANK1):c.3164T>C (p.Ile1055Thr)	KANK1 (I1037T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 488865	NM_015158.5(KANK1):c.3202C>T (p.Gln1068Ter)	KANK1 (Q1068* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1260977	NM_015158.5(KANK1):c.3245+87T>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247554	NM_015158.5(KANK1):c.3245+113C>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241101	NM_015158.5(KANK1):c.3245+162A>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232632	NM_015158.5(KANK1):c.3245+275G>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287587	NM_015158.5(KANK1):c.3245+283T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316676	NM_015158.5(KANK1):c.3246-133A>G	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316678	NM_015158.5(KANK1):c.3246-126T>C	KANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178465	NM_015158.5(KANK1):c.3246-103G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246472	NM_015158.5(KANK1):c.3246-73dup	KANK1	Duplication (intron variant)	not provided	GBenign
Select item 1261845	NM_015158.5(KANK1):c.3246-69G>T	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776399	NM_015158.5(KANK1):c.3333+4A>C	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170412	NM_015158.5(KANK1):c.3333+19C>G	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295506	NM_015158.5(KANK1):c.3333+254G>A	KANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250957	NM_015158.5(KANK1):c.3334-230T>C	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248129	NM_015158.5(KANK1):c.3334-47G>A	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317372	NM_015158.5(KANK1):c.3334-35A>G	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787064	NM_015158.5(KANK1):c.3372C>T (p.Arg1124=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign

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