23435[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	TMEM201, TMEM240 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	AADACL3, AADACL4 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	AADACL3, AADACL4 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	PRAMEF7, PRAMEF8 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	LOC129929417, LOC129929418 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	LOC129929360, LOC129929361 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 153433	GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4	C1orf127, CASZ1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 57720	GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3	ANGPTL7, C1orf127 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 291727	NM_007375.3(TARDBP):c.-126G>T	TARDBP	Single nucleotide variant	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 291728	NM_007375.3(TARDBP):c.-122G>A	TARDBP	Single nucleotide variant	TARDBP-related frontotemporal dementia +1 more	GBenign
Select item 291729	NM_007375.3(TARDBP):c.-117G>A	TARDBP	Single nucleotide variant	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 291730	NM_007375.3(TARDBP):c.-110C>T	TARDBP	Single nucleotide variant	Amyotrophic lateral sclerosis type 10	GLikely benign
Select item 291731	NM_007375.4(TARDBP):c.-77G>A	TARDBP	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 291732	NM_007375.4(TARDBP):c.-42C>T	TARDBP	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 1165369	NM_007375.4(TARDBP):c.-13+95C>T	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GBenign
Select item 1237929	NM_007375.4(TARDBP):c.-12-263_-12-262del	TARDBP	Microsatellite (intron variant)	not provided	GBenign
Select item 291733	NM_007375.4(TARDBP):c.-12-10_-12-9del	TARDBP	Deletion (intron variant)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GLikely benign
Select item 2945308	NM_007375.4(TARDBP):c.12T>C (p.Tyr4=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 704022	NM_007375.4(TARDBP):c.24C>T (p.Thr8=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 875641	NM_007375.4(TARDBP):c.36C>T (p.Asn12=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 875642	NM_007375.4(TARDBP):c.57A>G (p.Pro19=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GConflicting classifications of pathogenicity
Select item 3064961	NM_007375.4(TARDBP):c.67G>A (p.Asp23Asn)	TARDBP (D23N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 1761611	NM_007375.4(TARDBP):c.80_97delinsAT (p.Leu27fs)	TARDBP (L27fs)	Indel (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 444152	NM_007375.4(TARDBP):c.87C>T (p.Ser29=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +3 more	GConflicting classifications of pathogenicity
Select item 2951868	NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)	TARDBP (T32I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 537329	NM_007375.4(TARDBP):c.111G>A (p.Gly37=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2923739	NM_007375.4(TARDBP):c.114G>A (p.Ala38=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 1752711	NM_007375.4(TARDBP):c.121C>T (p.Leu41Phe)	TARDBP (L41F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773959	NM_007375.4(TARDBP):c.149G>C (p.Cys50Ser)	TARDBP (C50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1630562	NM_007375.4(TARDBP):c.162C>T (p.Val54=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2939957	NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)	TARDBP (V57I)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 1532171	NM_007375.4(TARDBP):c.189C>T (p.Ala63=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 291734	NM_007375.4(TARDBP):c.198T>C (p.Ala66=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 941988	NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp)	TARDBP (N70D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1391648	NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser)	TARDBP (N76S)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 291735	NM_007375.4(TARDBP):c.238+9C>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +2 more	GBenign
Select item 2921683	NM_007375.4(TARDBP):c.238+21dup	TARDBP	Duplication (intron variant)	TARDBP-related frontotemporal dementia +1 more	GBenign
Select item 2153271	NM_007375.4(TARDBP):c.238+16G>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1198715	NM_007375.4(TARDBP):c.238+86A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293157	NM_007375.4(TARDBP):c.238+228A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203959	NM_007375.4(TARDBP):c.239-116G>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2941149	NM_007375.4(TARDBP):c.239-18T>C	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GBenign
Select item 291736	NM_007375.4(TARDBP):c.239-15G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2045365	NM_007375.4(TARDBP):c.239-12C>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1612730	NM_007375.4(TARDBP):c.239-11G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1794169	NM_007375.4(TARDBP):c.263C>G (p.Thr88Arg)	TARDBP (T88R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 537328	NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile)	TARDBP (T88I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 21481	NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)	TARDBP	Single nucleotide variant (missense variant)	TARDBP-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2951046	NM_007375.4(TARDBP):c.273A>G (p.Ser91=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2927253	NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)	TARDBP (K97R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1963276	NM_007375.4(TARDBP):c.312C>T (p.Ser104=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1594865	NM_007375.4(TARDBP):c.330T>G (p.Gly110=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1730691	NM_007375.4(TARDBP):c.336A>G (p.Pro112=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1731335	NM_007375.4(TARDBP):c.342A>G (p.Lys114=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1733210	NM_007375.4(TARDBP):c.360G>A (p.Leu120=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1641004	NM_007375.4(TARDBP):c.402+19A>G	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1282825	NM_007375.4(TARDBP):c.402+110C>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201009	NM_007375.4(TARDBP):c.402+191C>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200318	NM_007375.4(TARDBP):c.402+213dup	TARDBP	Duplication (intron variant)	not provided	GLikely benign
Select item 1238512	NM_007375.4(TARDBP):c.402+213del	TARDBP	Deletion (intron variant)	not provided	GBenign
Select item 1293632	NM_007375.4(TARDBP):c.403-65A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2149700	NM_007375.4(TARDBP):c.403-14A>G	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1571680	NM_007375.4(TARDBP):c.403-5T>C	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related condition +2 more	GLikely benign
Select item 916202	NM_007375.4(TARDBP):c.411A>G (p.Lys137=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +3 more	GLikely benign
Select item 1931570	NM_007375.4(TARDBP):c.465T>C (p.Tyr155=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 741536	NM_007375.4(TARDBP):c.471A>G (p.Thr157=)	TARDBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998128	NM_007375.4(TARDBP):c.495A>G (p.Arg165=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 291737	NM_007375.4(TARDBP):c.499A>G (p.Met167Val)	TARDBP (M167V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 2940917	NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)	TARDBP (D169F)	Indel (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 5233	NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GPathogenic
Select item 1631704	NM_007375.4(TARDBP):c.543+9G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1597065	NM_007375.4(TARDBP):c.543+15G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2922673	NM_007375.4(TARDBP):c.543+16C>G	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2159796	NM_007375.4(TARDBP):c.543+20G>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2346711	NM_007375.4(TARDBP):c.543+112C>A	TARDBP	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1293144	NM_007375.4(TARDBP):c.543+147A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193656	NM_007375.4(TARDBP):c.543+265A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207766	NM_007375.4(TARDBP):c.543+290A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223420	NM_007375.4(TARDBP):c.544-184C>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190206	NM_007375.4(TARDBP):c.544-156A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534770	NM_007375.4(TARDBP):c.544-17C>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GBenign
Select item 2949435	NM_007375.4(TARDBP):c.544-15T>C	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 1089253	NM_007375.4(TARDBP):c.544-6G>C	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 961801	NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys)	TARDBP (Q184K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2061989	NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)	TARDBP (G196E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2113788	NM_007375.4(TARDBP):c.609T>G (p.Thr203=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 1565075	NM_007375.4(TARDBP):c.622C>A (p.Arg208=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1031736	NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln)	TARDBP (R208Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance

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