24565[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 148960	GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 153206	GRCh38/hg38 17q21.31(chr17:45544831-46124104)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 154006	GRCh38/hg38 17q21.31(chr17:45571125-46137522)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148313	GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57524	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1	ARL17B, CRHR1 +13 more	Copy number loss	See cases	GPathogenic
Select item 160838	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 148153	GRCh38/hg38 17q21.31(chr17:45578381-46177048)x1	LOC121852934, CRHR1 +10 more	Copy number loss	See cases	GPathogenic
Select item 144496	GRCh38/hg38 17q21.31(chr17:45578381-46130670)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57290	GRCh38/hg38 17q21.31(chr17:45578381-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 35239	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 150548	GRCh38/hg38 17q21.31(chr17:45579327-46130578)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57525	GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57526	GRCh38/hg38 17q21.31(chr17:45616241-46136454)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 155320	GRCh38/hg38 17q21.31(chr17:45626435-46110126)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 161014	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148938	GRCh38/hg38 17q21.31(chr17:45629520-46094581)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148520	GRCh38/hg38 17q21.31(chr17:45629520-46079192)x3	CRHR1, KANSL1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148451	GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 145067	GRCh38/hg38 17q21.31(chr17:45629520-46130611)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57538	GRCh38/hg38 17q21.31(chr17:45629520-46098805)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57528	GRCh38/hg38 17q21.31(chr17:45629520-46051878)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57279	GRCh38/hg38 17q21.31(chr17:45629520-46061206)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 32010	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57539	GRCh38/hg38 17q21.31(chr17:45637714-46118962)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 147646	GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57540	GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57541	GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 323666	NM_001377265.1(MAPT):c.*1039C>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323667	NM_001377265.1(MAPT):c.*1047C>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GBenign/Likely benign
Select item 323668	NM_001377265.1(MAPT):c.*1067T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +2 more	GBenign
Select item 323669	NM_001377265.1(MAPT):c.*1101A>G	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 323672	NM_001377265.1(MAPT):c.1145_1146insT	KANSL1, MAPT	Insertion (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GBenign
Select item 323673	NM_001377265.1(MAPT):c.*1152G>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 323677	NM_001377265.1(MAPT):c.*1404T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323679	NM_001377265.1(MAPT):c.*1465C>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323681	NM_001377265.1(MAPT):c.*1670C>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323682	NM_001377265.1(MAPT):c.*1721C>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323684	NM_001377265.1(MAPT):c.*1759T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 323690	NM_001377265.1(MAPT):c.*2079C>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 323691	NM_001377265.1(MAPT):c.*2167G>A	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323693	NM_001377265.1(MAPT):c.*2269G>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 323704	NM_001377265.1(MAPT):c.*2806A>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 323705	NM_001377265.1(MAPT):c.*2810G>A	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GBenign/Likely benign
Select item 323709	NM_001377265.1(MAPT):c.*2956T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323711	NM_001377265.1(MAPT):c.*2972T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 323712	NM_001377265.1(MAPT):c.*2991C>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323715	NM_001377265.1(MAPT):c.*3078=	KANSL1, MAPT	Duplication (no sequence alteration +1 more)	Syndromic intellectual disability +1 more	GBenign
Select item 323716	NM_001377265.1(MAPT):c.*3133A>G	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323719	NM_001377265.1(MAPT):c.*3377G>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323721	NM_001377265.1(MAPT):c.*3435T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323722	NM_001377265.1(MAPT):c.*3570T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +2 more	GLikely benign
Select item 323724	NM_001377265.1(MAPT):c.*3810G>A	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323726	NM_001377265.1(MAPT):c.*3848A>G	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 323729	NM_001377265.1(MAPT):c.*4154T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323730	NM_015443.4(KANSL1):c.*1551del	KANSL1	Deletion (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 2647854	NM_015443.4(KANSL1):c.*1519AAG[1]	KANSL1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 323731	NM_015443.4(KANSL1):c.*1520dup	KANSL1	Duplication (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 323732	NM_015443.4(KANSL1):c.*1520del	KANSL1, MAPT	Deletion (3 prime UTR variant)	Syndromic intellectual disability +1 more	GBenign
Select item 323735	NM_015443.4(KANSL1):c.*1354dup	KANSL1	Duplication (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 323736	NM_015443.4(KANSL1):c.*1354del	KANSL1, MAPT	Deletion (3 prime UTR variant)	Syndromic intellectual disability +1 more	GBenign
Select item 323738	NM_015443.4(KANSL1):c.*1328del	KANSL1, MAPT	Deletion (3 prime UTR variant)	Syndromic intellectual disability +1 more	GBenign
Select item 323742	NM_015443.4(KANSL1):c.1234_1235dup	KANSL1	Duplication (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 323741	NC_000017.11:g.46030249dup	KANSL1, MAPT	Duplication (3 prime UTR variant)	MAPT-Related Spectrum Disorders	GBenign
Select item 323743	NM_015443.4(KANSL1):c.*1196T>G	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323744	NM_015443.4(KANSL1):c.*1103dup	KANSL1	Duplication (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 323745	NM_015443.4(KANSL1):c.*1028T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323746	NM_015443.4(KANSL1):c.*1027C>G	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	Syndromic intellectual disability +2 more	GLikely benign
Select item 323748	NM_015443.4(KANSL1):c.*954C>G	KANSL1	Single nucleotide variant (3 prime UTR variant)	Syndromic intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 323749	NM_015443.4(KANSL1):c.*885del	KANSL1, MAPT	Deletion (3 prime UTR variant)	Syndromic intellectual disability +1 more	GBenign
Select item 323751	NM_015443.4(KANSL1):c.*742G>A	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 323752	NC_000017.11:g.46030836A>G	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	MAPT-Related Spectrum Disorders +1 more	GBenign
Select item 323754	NM_015443.4(KANSL1):c.*626T>C	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323756	NC_000017.11:g.46030989G>A	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	MAPT-Related Spectrum Disorders +1 more	GBenign
Select item 323757	NM_015443.4(KANSL1):c.*388G>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323758	NM_015443.4(KANSL1):c.359_360insAGAGGGC	KANSL1, MAPT	Insertion (3 prime UTR variant)	Syndromic intellectual disability +1 more	GBenign
Select item 323759	NM_015443.4(KANSL1):c.*217C>T	KANSL1, MAPT	Single nucleotide variant (3 prime UTR variant)	Syndromic intellectual disability +1 more	GLikely benign
Select item 323760	NM_015443.4(KANSL1):c.34_37del	KANSL1, MAPT	Deletion (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 323761	NM_015443.4(KANSL1):c.*28ACTA[1]	KANSL1	Microsatellite (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 584056	NC_000017.11:g.(?_46031456)_(46082562_?)del	KANSL1	Deletion	Koolen-de Vries syndrome	GPathogenic
Select item 583790	NC_000017.10:g.(?_44108822)_(44128090_?)dup	KANSL1	Duplication	Koolen-de Vries syndrome	GUncertain significance
Select item 1257473	NM_015443.4(KANSL1):c.*17T>A	KANSL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 381968	NM_015443.4(KANSL1):c.*3G>A	KANSL1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 391464	NM_015443.4(KANSL1):c.*2C>T	KANSL1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2432955	NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly)	KANSL1 (R1026G +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 424157	NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs)	KANSL1 (H1103fs +1 more)	Microsatellite (frameshift variant)	Koolen-de Vries syndrome +1 more	GUncertain significance
Select item 2157489	NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln)	KANSL1 (H1041Q +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 377995	NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)	KANSL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3063731	NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln)	KANSL1 (P1023Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 388823	NM_015443.4(KANSL1):c.3305C>T (p.Pro1102Leu)	KANSL1 (P1102L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2824783	NM_015443.4(KANSL1):c.3302dup (p.Thr1103fs)	KANSL1 (T1039fs +11 more)	Duplication (frameshift variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2124197	NM_015443.4(KANSL1):c.3302G>A (p.Arg1101His)	KANSL1 (R1022H +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2710685	NM_015443.4(KANSL1):c.3301C>T (p.Arg1101Cys)	KANSL1 (R1057C +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2198776	NM_015443.4(KANSL1):c.3300G>A (p.Gln1100=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 205801	NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu)	KANSL1 (Q1100E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2529558	NM_015443.4(KANSL1):c.3296C>T (p.Ala1099Val)	KANSL1 (A1064V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2820998	NM_015443.4(KANSL1):c.3295G>C (p.Ala1099Pro)	KANSL1 (A1036P +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance

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