KEL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 2286535	NM_000420.3(KEL):c.2183G>T (p.Arg728Leu)	KEL (R728L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249179	NM_000420.3(KEL):c.2146C>T (p.Arg716Cys)	KEL (R716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256447	NM_000420.3(KEL):c.2141A>T (p.Tyr714Phe)	KEL (Y714F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658109	NM_000420.3(KEL):c.2106C>T (p.His702=)	KEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404579	NM_000420.3(KEL):c.2086C>T (p.Pro696Ser)	KEL (P696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870126	NM_000420.3(KEL):c.2065G>T (p.Asp689Tyr)	KEL (D689Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332641	NM_000420.3(KEL):c.2005C>A (p.Pro669Thr)	KEL (P669T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252640	NM_000420.3(KEL):c.1942G>A (p.Ala648Thr)	KEL (A648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366848	NM_000420.3(KEL):c.1934C>A (p.Ala645Glu)	KEL (A645E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1185000	NM_000420.3(KEL):c.1934C>T (p.Ala645Val)	KEL (A645V)	Single nucleotide variant (missense variant)	Kell blood group system	GAffects
Select item 2541790	NM_000420.3(KEL):c.1933G>T (p.Ala645Ser)	KEL (A645S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056220	NM_000420.3(KEL):c.1899A>G (p.Leu633=)	KEL	Single nucleotide variant (synonymous variant)	KEL-related disorder	GBenign
Select item 3113951	NM_000420.3(KEL):c.1835A>G (p.Lys612Arg)	KEL (K612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 31082	NM_000420.3(KEL):c.1790T>C (p.Leu597Pro)	KEL (L597P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3113950	NM_000420.3(KEL):c.1762T>C (p.Tyr588His)	KEL (Y588H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184987	NM_000420.3(KEL):c.1720G>A (p.Ala574Thr)	KEL (A574T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041437	NM_000420.3(KEL):c.1703+5G>A	KEL	Single nucleotide variant (intron variant)	KEL-related disorder	GLikely benign
Select item 3038127	NM_000420.3(KEL):c.1680A>C (p.Pro560=)	KEL	Single nucleotide variant (synonymous variant)	KEL-related disorder	GBenign
Select item 2261828	NM_000420.3(KEL):c.1633G>T (p.Val545Leu)	KEL (V545L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744748	NM_000420.3(KEL):c.1615G>A (p.Val539Ile)	KEL (V539I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2285446	NM_000420.3(KEL):c.1600G>A (p.Val534Met)	KEL (V534M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043137	NM_000420.3(KEL):c.1593-4A>T	KEL	Single nucleotide variant (intron variant)	KEL-related disorder	GBenign
Select item 3113949	NM_000420.3(KEL):c.1582C>A (p.Pro528Thr)	KEL (P528T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784500	NM_000420.3(KEL):c.1546C>A (p.Arg516=)	KEL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2376050	NM_000420.3(KEL):c.1538G>A (p.Arg513Gln)	KEL (R513Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550801	NM_000420.3(KEL):c.1487A>G (p.Asn496Ser)	KEL (N496S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035664	NM_000420.3(KEL):c.1481A>T (p.Glu494Val)	KEL (E494V)	Single nucleotide variant (missense variant)	KEL-related disorder	GLikely benign
Select item 2394461	NM_000420.3(KEL):c.1390A>G (p.Thr464Ala)	KEL (T464A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113947	NM_000420.3(KEL):c.1346C>A (p.Ala449Asp)	KEL (A449D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454374	NM_000420.3(KEL):c.1334C>T (p.Ala445Val)	KEL (A445V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412503	NM_000420.3(KEL):c.1307G>A (p.Arg436Gln)	KEL (R436Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3058178	NM_000420.3(KEL):c.1263G>A (p.Thr421=)	KEL	Single nucleotide variant (synonymous variant)	KEL-related disorder	GLikely benign
Select item 2229070	NM_000420.3(KEL):c.1262C>T (p.Thr421Met)	KEL (T421M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288016	NM_000420.3(KEL):c.1211G>A (p.Arg404His)	KEL (R404H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113946	NM_000420.3(KEL):c.1204C>A (p.Pro402Thr)	KEL (P402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731276	NM_000420.3(KEL):c.1204-4A>G	KEL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3237381	NM_000420.3(KEL):c.1178G>A (p.Arg393Gln)	KEL (R393Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3113944	NM_000420.3(KEL):c.1150G>A (p.Ala384Thr)	KEL (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288014	NM_000420.3(KEL):c.1123C>A (p.Pro375Thr)	KEL (P375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252639	NM_000420.3(KEL):c.1051G>A (p.Glu351Lys)	KEL (E351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342008	NM_000420.3(KEL):c.1006G>A (p.Val336Met)	KEL (V336M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 724146	NM_000420.3(KEL):c.1005C>T (p.Leu335=)	KEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049137	NM_000420.3(KEL):c.977C>A (p.Pro326Gln)	KEL (P326Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722293	NM_000420.3(KEL):c.972C>T (p.Phe324=)	KEL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1344636	NM_000420.3(KEL):c.961C>T (p.Gln321Ter)	KEL (Q321*)	Single nucleotide variant (nonsense)	Vein of Galen aneurysmal malformation	Gassociation
Select item 2319003	NM_000420.3(KEL):c.943G>A (p.Asp315Asn)	KEL (D315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288015	NM_000420.3(KEL):c.901A>G (p.Met301Val)	KEL (M301V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609669	NM_000420.3(KEL):c.868G>C (p.Glu290Gln)	KEL (E290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304546	NM_000420.3(KEL):c.852G>T (p.Gln284His)	KEL (Q284H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3237418	NM_000420.3(KEL):c.832A>C (p.Ile278Leu)	KEL (I278L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351113	NM_000420.3(KEL):c.736-10C>T	KEL	Single nucleotide variant (intron variant)	KEL-related disorder	GLikely benign
Select item 3113955	NM_000420.3(KEL):c.657C>A (p.His219Gln)	KEL (H219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344634	NM_000420.3(KEL):c.604G>A (p.Gly202Ser)	KEL (G202S)	Single nucleotide variant (missense variant)	Vein of Galen aneurysmal malformation	Gassociation
Select item 1184732	NM_000420.3(KEL):c.586C>G (p.Leu196Val)	KEL (L196V)	Single nucleotide variant (missense variant)	Kell blood group system	GUncertain significance
Select item 17722	NM_000420.3(KEL):c.578C>T (p.Thr193Met)	KEL (T193M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1184986	NM_000420.3(KEL):c.575G>A (p.Arg192Gln)	KEL (R192Q)	Single nucleotide variant (missense variant)	Kell blood group system	GAffects
Select item 2261258	NM_000420.3(KEL):c.538C>T (p.Arg180Cys)	KEL (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113954	NM_000420.3(KEL):c.494G>C (p.Gly165Ala)	KEL (G165A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252641	NM_000420.3(KEL):c.472A>G (p.Thr158Ala)	KEL (T158A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113953	NM_000420.3(KEL):c.466A>G (p.Met156Val)	KEL (M156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113952	NM_000420.3(KEL):c.443C>G (p.Ala148Gly)	KEL (A148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576608	NM_000420.3(KEL):c.400+1G>A	KEL	Single nucleotide variant (splice donor variant)	Kell blood group system	GPathogenic
Select item 2390159	NM_000420.3(KEL):c.334A>G (p.Lys112Glu)	KEL (K112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616428	NM_000420.3(KEL):c.296C>A (p.Pro99His)	KEL (P99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184988	NM_000420.3(KEL):c.257G>A (p.Arg86Gln)	KEL (R86Q)	Single nucleotide variant (missense variant)	Kell blood group system	GAffects
Select item 17723	NM_000420.3(KEL):c.223+1G>C	KEL	Single nucleotide variant (splice donor variant)	KELL-NULL PHENOTYPE	GPathogenic
Select item 2296777	NM_000420.3(KEL):c.197T>G (p.Phe66Cys)	KEL (F66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552812	NM_000420.3(KEL):c.164T>C (p.Leu55Ser)	KEL (L55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113948	NM_000420.3(KEL):c.140G>C (p.Arg47Pro)	KEL (R47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288369	NM_000420.3(KEL):c.76C>G (p.Gln26Glu)	KEL (Q26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3237423	NM_000420.3(KEL):c.30G>C (p.Glu10Asp)	KEL (E10D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic

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