4137[geneid] - 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 148620	GRCh38/hg38 17q21.31(chr17:45674308-45941967)x3	CRHR1, LINC02210-CRHR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 146297	GRCh38/hg38 17q21.31(chr17:45674308-45898400)x3	CRHR1, LINC02210-CRHR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 57541	GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 323631	NM_005910.5(MAPT):c.-315C>A	MAPT, MAPT-AS1	Single nucleotide variant	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 323632	NM_005910.5(MAPT):c.-314G>A	MAPT, MAPT-AS1	Single nucleotide variant	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 323633	NM_005910.5(MAPT):c.-310G>T	MAPT, MAPT-AS1	Single nucleotide variant	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 323634	NM_005910.5(MAPT):c.-285A>G	MAPT, MAPT-AS1	Single nucleotide variant	not provided +1 more	GBenign
Select item 323635	NM_005910.5(MAPT):c.-245C>T	MAPT, MAPT-AS1	Single nucleotide variant	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 889016	NM_005910.5(MAPT):c.-241C>T	MAPT, MAPT-AS1	Single nucleotide variant	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 889017	NM_005910.5(MAPT):c.-235C>G	MAPT, MAPT-AS1	Single nucleotide variant	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 323636	NM_005910.5(MAPT):c.-177G>C	MAPT, MAPT-AS1	Single nucleotide variant	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 323637	NM_005910.5(MAPT):c.-163G>T	MAPT, MAPT-AS1	Single nucleotide variant	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 323638	NM_001377265.1(MAPT):c.-141G>A	MAPT, MAPT-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 323639	NM_001377265.1(MAPT):c.-133C>A	MAPT, MAPT-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 323640	NM_001377265.1(MAPT):c.-42del	MAPT, MAPT-AS1	Deletion (5 prime UTR variant +1 more)	MAPT-Related Spectrum Disorders	GBenign
Select item 323641	NM_001377265.1(MAPT):c.-26G>T	MAPT, MAPT-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 1168309	NM_001377265.1(MAPT):c.-18+124C>G	MAPT, MAPT-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1259075	NM_001377265.1(MAPT):c.-17-322C>T	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296619	NM_001377265.1(MAPT):c.-17-277A>G	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191111	NM_001377265.1(MAPT):c.-17-215C>T	MAPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242653	NM_001377265.1(MAPT):c.-17-171G>T	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257501	NM_001377265.1(MAPT):c.-13A>G	MAPT	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 2191596	NM_001377265.1(MAPT):c.4G>T (p.Ala2Ser)	MAPT (A2S)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 1345546	NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)	MAPT (P4T)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +4 more	GUncertain significance
Select item 889714	NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys)	MAPT (R5C)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +1 more	GConflicting classifications of pathogenicity
Select item 14263	NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu)	MAPT (R5L)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1	GPathogenic
Select item 14261	NM_001377265.1(MAPT):c.14G>A (p.Arg5His)	MAPT (R5H)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +2 more	GConflicting classifications of pathogenicity
Select item 1596035	NM_001377265.1(MAPT):c.18G>A (p.Gln6=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 1335279	NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)	MAPT (E9K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2079984	NM_001377265.1(MAPT):c.31A>C (p.Met11Leu)	MAPT (M11L)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 1661803	NM_001377265.1(MAPT):c.36A>G (p.Glu12=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 2420468	NM_001377265.1(MAPT):c.39T>C (p.Asp13=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 1589624	NM_001377265.1(MAPT):c.42C>T (p.His14=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 548576	NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)	MAPT (G16V)	Single nucleotide variant (missense variant +1 more)	Pick disease +3 more	GUncertain significance
Select item 704535	NM_001377265.1(MAPT):c.50C>T (p.Thr17Met)	MAPT (T17M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 98194	NM_001377265.1(MAPT):c.54C>T (p.Tyr18=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +1 more	GLikely benign
Select item 3123393	NM_001377265.1(MAPT):c.55G>A (p.Gly19Arg)	MAPT (G19R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2769979	NM_001377265.1(MAPT):c.58T>C (p.Leu20=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GLikely benign
Select item 1368749	NM_001377265.1(MAPT):c.60G>C (p.Leu20Phe)	MAPT (L20F)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 663933	NM_001377265.1(MAPT):c.62G>T (p.Gly21Val)	MAPT (G21V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2578790	NM_001377265.1(MAPT):c.63G>A (p.Gly21=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 161704	NM_001377265.1(MAPT):c.69G>C (p.Arg23Ser)	MAPT (R23S)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 1424259	NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)	MAPT (G27E)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +1 more	GConflicting classifications of pathogenicity
Select item 1717262	NM_001377265.1(MAPT):c.89_90delinsAA (p.Thr30Lys)	MAPT (T30K)	Indel (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 956359	NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)	MAPT (T30I)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +4 more	GUncertain significance
Select item 712132	NM_001377265.1(MAPT):c.90C>A (p.Thr30=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 161703	NM_001377265.1(MAPT):c.100G>T (p.Asp34Tyr)	MAPT (D34Y)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 1302562	NM_001377265.1(MAPT):c.110G>T (p.Gly37Val)	MAPT (G37V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 98195	NM_001377265.1(MAPT):c.117G>A (p.Thr39=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 695504	NM_001377265.1(MAPT):c.120C>T (p.Asp40=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +1 more	GBenign/Likely benign
Select item 1442775	NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr)	MAPT (A41T)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GUncertain significance
Select item 2842583	NM_001377265.1(MAPT):c.133+7G>A	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2445689	NM_001377265.1(MAPT):c.133+16T>C	MAPT	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1267707	NM_001377265.1(MAPT):c.133+284C>T	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266638	NM_001377265.1(MAPT):c.134-290_134-289insACCA	MAPT	Insertion (intron variant)	not provided	GBenign
Select item 1263140	NM_001377265.1(MAPT):c.134-287del	MAPT	Deletion (intron variant)	not provided	GBenign
Select item 1230922	NM_001377265.1(MAPT):c.134-284_134-281del	MAPT	Deletion (intron variant)	not provided	GBenign
Select item 1250153	NM_001377265.1(MAPT):c.134-92T>C	MAPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3011213	NM_001377265.1(MAPT):c.134-20G>C	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GLikely benign
Select item 2704658	NM_001377265.1(MAPT):c.134A>T (p.Glu45Val)	MAPT (E45V)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 3348389	NM_001377265.1(MAPT):c.149C>T (p.Thr50Ile)	MAPT (T50I)	Single nucleotide variant (missense variant +2 more)	MAPT-related disorder	GUncertain significance
Select item 2647851	NM_001377265.1(MAPT):c.150C>T (p.Thr50=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2728605	NM_001377265.1(MAPT):c.153C>A (p.Pro51=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign
Select item 2988430	NM_001377265.1(MAPT):c.159G>C (p.Glu53Asp)	MAPT (E53D)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GUncertain significance
Select item 889715	NM_001377265.1(MAPT):c.162C>T (p.Asp54=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	MAPT-Related Spectrum Disorders	GUncertain significance
Select item 1169744	NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)	MAPT (P59L)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia +1 more	GBenign
Select item 1647872	NM_001377265.1(MAPT):c.177G>A (p.Pro59=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1158143	NM_001377265.1(MAPT):c.177G>C (p.Pro59=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign
Select item 2628522	NM_001377265.1(MAPT):c.205A>G (p.Thr69Ala)	MAPT (T69A)	Single nucleotide variant (missense variant +2 more)	MAPT-related disorder	GUncertain significance
Select item 1945687	NM_001377265.1(MAPT):c.216G>A (p.Ala72=)	MAPT	Single nucleotide variant (synonymous variant +2 more)	Frontotemporal dementia	GLikely benign

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