NIPAL4-DT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1939475	NM_001037333.3(CYFIP2):c.3040-17T>C	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741816	NM_001037333.3(CYFIP2):c.3040-14C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553247	NM_001037333.3(CYFIP2):c.3040-13C>G	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660182	NM_001037333.3(CYFIP2):c.3040-11C>A	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1368016	NM_001037333.3(CYFIP2):c.3040-11_3040-10delinsAT	CYFIP2, NIPAL4-DT	Indel (intron variant)	not provided	GUncertain significance
Select item 2744557	NM_001037333.3(CYFIP2):c.3040-9dup	CYFIP2, NIPAL4-DT	Duplication (intron variant)	not provided	GLikely benign
Select item 2767392	NM_001037333.3(CYFIP2):c.3040-9T>A	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181956	NM_001037333.3(CYFIP2):c.3040-4G>A	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908542	NM_001037333.3(CYFIP2):c.3051G>A (p.Glu1017=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629193	NM_001037333.3(CYFIP2):c.3057C>T (p.Cys1019=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052295	NM_001037333.3(CYFIP2):c.3064C>A (p.Leu1022Ile)	CYFIP2, NIPAL4-DT (L1022I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006750	NM_001037333.3(CYFIP2):c.3066C>T (p.Leu1022=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537307	NM_001037333.3(CYFIP2):c.3069T>C (p.His1023=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639194	NM_001037333.3(CYFIP2):c.3072C>T (p.Ala1024=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005963	NM_001037333.3(CYFIP2):c.3073G>A (p.Ala1025Thr)	CYFIP2, NIPAL4-DT (A1050T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961330	NM_001037333.3(CYFIP2):c.3081C>T (p.Phe1027=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940981	NM_001037333.3(CYFIP2):c.3087C>T (p.Asn1029=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582203	NM_001037333.3(CYFIP2):c.3093G>T (p.Leu1031Phe)	CYFIP2, NIPAL4-DT (L1005F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892890	NM_001037333.3(CYFIP2):c.3105C>T (p.Tyr1035=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964048	NM_001037333.3(CYFIP2):c.3106A>G (p.Ile1036Val)	CYFIP2, NIPAL4-DT (I1036V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1488422	NM_001037333.3(CYFIP2):c.3108C>G (p.Ile1036Met)	CYFIP2, NIPAL4-DT (I1036M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2699034	NM_001037333.3(CYFIP2):c.3112+12C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021220	NM_001037333.3(CYFIP2):c.3112+13T>C	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959513	NM_001037333.3(CYFIP2):c.3112+17_3112+18delinsAT	CYFIP2, NIPAL4-DT	Indel (intron variant)	not provided	GBenign
Select item 1535545	NM_001037333.3(CYFIP2):c.3112+20G>A	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033632	NM_001037333.3(CYFIP2):c.3113-16_3113-15delinsTG	CYFIP2, NIPAL4-DT	Indel (intron variant)	not provided	GUncertain significance
Select item 1941587	NM_001037333.3(CYFIP2):c.3113-15C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912366	NM_001037333.3(CYFIP2):c.3113-14G>A	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008799	NM_001037333.3(CYFIP2):c.3113-10C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077541	NM_001037333.3(CYFIP2):c.3113-10C>A	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575819	NM_001037333.3(CYFIP2):c.3116G>A (p.Gly1039Glu)	CYFIP2, NIPAL4-DT (G1013E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018051	NM_001037333.3(CYFIP2):c.3118G>T (p.Glu1040Ter)	CYFIP2, NIPAL4-DT (E1014* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1571845	NM_001037333.3(CYFIP2):c.3120G>T (p.Glu1040Asp)	CYFIP2, NIPAL4-DT (E1014D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2708910	NM_001037333.3(CYFIP2):c.3121C>T (p.Arg1041Cys)	CYFIP2, NIPAL4-DT (R1015C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018749	NM_001037333.3(CYFIP2):c.3122G>A (p.Arg1041His)	CYFIP2, NIPAL4-DT (R1066H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1601142	NM_001037333.3(CYFIP2):c.3122G>T (p.Arg1041Leu)	CYFIP2, NIPAL4-DT (R1015L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1721187	NM_001037333.3(CYFIP2):c.3133C>G (p.Arg1045Gly)	CYFIP2, NIPAL4-DT (R1019G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474905	NM_001037333.3(CYFIP2):c.3133C>T (p.Arg1045Trp)	CYFIP2, NIPAL4-DT (R1019W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1440244	NM_001037333.3(CYFIP2):c.3137T>G (p.Met1046Arg)	CYFIP2, NIPAL4-DT (M1046R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982238	NM_001037333.3(CYFIP2):c.3142C>T (p.Arg1048Cys)	CYFIP2, NIPAL4-DT (R1048C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776086	NM_001037333.3(CYFIP2):c.3153C>T (p.Ala1051=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 65 +1 more	GBenign/Likely benign
Select item 2891505	NM_001037333.3(CYFIP2):c.3156G>A (p.Lys1052=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624001	NM_001037333.3(CYFIP2):c.3162C>T (p.Ala1054=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478609	NM_001037333.3(CYFIP2):c.3164C>T (p.Pro1055Leu)	CYFIP2, NIPAL4-DT (P1055L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2184149	NM_001037333.3(CYFIP2):c.3165G>A (p.Pro1055=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541167	NM_001037333.3(CYFIP2):c.3165G>T (p.Pro1055=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726939	NM_001037333.3(CYFIP2):c.3168C>G (p.Leu1056=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632630	NM_001037333.3(CYFIP2):c.3168C>T (p.Leu1056=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426526	NM_001037333.3(CYFIP2):c.3175G>T (p.Val1059Phe)	CYFIP2, NIPAL4-DT (V1059F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2109536	NM_001037333.3(CYFIP2):c.3178C>T (p.Pro1060Ser)	CYFIP2, NIPAL4-DT (P1085S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388636	NM_001037333.3(CYFIP2):c.3183dup (p.Ile1062fs)	CYFIP2, NIPAL4-DT (I1087fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1397043	NM_001037333.3(CYFIP2):c.3185T>C (p.Ile1062Thr)	CYFIP2, NIPAL4-DT (I1062T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621684	NM_001037333.3(CYFIP2):c.3186C>T (p.Ile1062=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527912	NM_001037333.3(CYFIP2):c.3186C>G (p.Ile1062Met)	CYFIP2, NIPAL4-DT (I1036M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1354740	NM_001037333.3(CYFIP2):c.3191G>A (p.Arg1064Gln)	CYFIP2, NIPAL4-DT (R1038Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1546475	NM_001037333.3(CYFIP2):c.3195G>A (p.Leu1065=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861954	NM_001037333.3(CYFIP2):c.3197G>A (p.Gly1066Glu)	CYFIP2, NIPAL4-DT (G1066E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833752	NM_001037333.3(CYFIP2):c.3197G>T (p.Gly1066Val)	CYFIP2, NIPAL4-DT (G1040V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983327	NM_001037333.3(CYFIP2):c.3198G>A (p.Gly1066=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668703	NM_001037333.3(CYFIP2):c.3201C>G (p.Thr1067=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479400	NM_001037333.3(CYFIP2):c.3202C>T (p.Pro1068Ser)	CYFIP2, NIPAL4-DT (P1042S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370426	NM_001037333.3(CYFIP2):c.3207+6A>G	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023797	NM_001037333.3(CYFIP2):c.3207+7A>G	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1531186	NM_001037333.3(CYFIP2):c.3207+11T>C	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947215	NM_001037333.3(CYFIP2):c.3207+12A>G	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638115	NM_001037333.3(CYFIP2):c.3207+14A>G	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090300	NM_001037333.3(CYFIP2):c.3208-20A>G	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634185	NM_001037333.3(CYFIP2):c.3208-18G>A	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917146	NM_001037333.3(CYFIP2):c.3208-17T>G	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817278	NM_001037333.3(CYFIP2):c.3208-14C>T	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672424	NM_001037333.3(CYFIP2):c.3208-7T>C	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652010	NM_001037333.3(CYFIP2):c.3208-5T>C	CYFIP2, NIPAL4-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081715	NM_001037333.3(CYFIP2):c.3213C>T (p.Ile1071=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2787983	NM_001037333.3(CYFIP2):c.3214G>A (p.Ala1072Thr)	CYFIP2, NIPAL4-DT (A1072T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135474	NM_001037333.3(CYFIP2):c.3214G>C (p.Ala1072Pro)	CYFIP2, NIPAL4-DT (A1046P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426677	NM_001037333.3(CYFIP2):c.3218T>C (p.Ile1073Thr)	CYFIP2, NIPAL4-DT (I1073T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2779278	NM_001037333.3(CYFIP2):c.3220G>A (p.Ala1074Thr)	CYFIP2, NIPAL4-DT (A1074T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354565	NM_001037333.3(CYFIP2):c.3223C>T (p.Arg1075Cys)	CYFIP2, NIPAL4-DT (R1049C +2 more)	Single nucleotide variant (missense variant)	CYFIP2-related disorder	GUncertain significance
Select item 3354203	NM_001037333.3(CYFIP2):c.3224G>A (p.Arg1075His)	CYFIP2, NIPAL4-DT (R1049H +2 more)	Single nucleotide variant (missense variant)	CYFIP2-related disorder	GUncertain significance
Select item 1599597	NM_001037333.3(CYFIP2):c.3225C>T (p.Arg1075=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2106131	NM_001037333.3(CYFIP2):c.3226G>A (p.Glu1076Lys)	CYFIP2, NIPAL4-DT (E1076K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2314167	NM_001037333.3(CYFIP2):c.3229G>A (p.Gly1077Ser)	CYFIP2, NIPAL4-DT (G1051S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2768766	NM_001037333.3(CYFIP2):c.3230G>C (p.Gly1077Ala)	CYFIP2, NIPAL4-DT (G1102A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798891	NM_001037333.3(CYFIP2):c.3249G>A (p.Glu1083=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995565	NM_001037333.3(CYFIP2):c.3250C>T (p.Arg1084Trp)	NIPAL4-DT, CYFIP2 (R1084W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867080	NM_001037333.3(CYFIP2):c.3256T>G (p.Cys1086Gly)	CYFIP2, NIPAL4-DT (C1060G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353432	NM_001037333.3(CYFIP2):c.3264C>T (p.Gly1088=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2825236	NM_001037333.3(CYFIP2):c.3267G>A (p.Leu1089=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127418	NM_001037333.3(CYFIP2):c.3271A>G (p.Met1091Val)	CYFIP2, NIPAL4-DT (M1091V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672743	NM_001037333.3(CYFIP2):c.3276C>T (p.Phe1092=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970233	NM_001037333.3(CYFIP2):c.3291C>A (p.Thr1097=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852808	NM_001037333.3(CYFIP2):c.3291C>T (p.Thr1097=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722892	NM_001037333.3(CYFIP2):c.3292C>T (p.Arg1098Cys)	CYFIP2, NIPAL4-DT (R1098C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003521	NM_001037333.3(CYFIP2):c.3293G>A (p.Arg1098His)	CYFIP2, NIPAL4-DT (R1098H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871441	NM_001037333.3(CYFIP2):c.3293G>T (p.Arg1098Leu)	CYFIP2, NIPAL4-DT (R1072L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535328	NM_001037333.3(CYFIP2):c.3298C>T (p.Arg1100Trp)	CYFIP2, NIPAL4-DT (R1074W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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