23259[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 150494	GRCh38/hg38 8p11.23-11.22(chr8:38046362-39172253)x1	ADAM32, ADAM9 +79 more	Copy number loss	See cases	GPathogenic
Select item 145616	GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1	ADAM18, ADAM2 +98 more	Copy number loss	See cases	GPathogenic
Select item 696256	NM_015214.3(DDHD2):c.21A>G (p.Gln7=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1970142	NM_015214.3(DDHD2):c.30G>C (p.Gln10His)	DDHD2 (Q10H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2306847	NM_015214.3(DDHD2):c.52C>G (p.Pro18Ala)	DDHD2 (P18A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1354536	NM_015214.3(DDHD2):c.58C>T (p.Pro20Ser)	DDHD2 (P20S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 523988	NM_015214.3(DDHD2):c.94_101dup (p.Ser35fs)	DDHD2 (S35fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2548010	NM_015214.3(DDHD2):c.95A>T (p.Asp32Val)	DDHD2 (D32V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 943177	NM_015214.3(DDHD2):c.105C>G (p.Ser35Arg)	DDHD2 (S35R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1043758	NM_015214.3(DDHD2):c.139T>G (p.Cys47Gly)	DDHD2 (C47G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3337019	NM_015214.3(DDHD2):c.166T>A (p.Trp56Arg)	DDHD2 (W56R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067256	NM_015214.3(DDHD2):c.196C>T (p.Gln66Ter)	DDHD2 (Q66*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 1585147	NM_015214.3(DDHD2):c.220+18C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2833689	NM_015214.3(DDHD2):c.220+20T>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1216423	NM_015214.3(DDHD2):c.220+34A>G	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2042107	NM_015214.3(DDHD2):c.221-19C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2574560	NM_015214.3(DDHD2):c.221-11A>G	DDHD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 701141	NM_015214.3(DDHD2):c.221-9C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 653311	NM_015214.3(DDHD2):c.221-1_224del	DDHD2	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 734414	NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys)	DDHD2 (G76C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +3 more	GConflicting classifications of pathogenicity
Select item 210840	NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr)	DDHD2 (G76Y)	Indel (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 701940	NM_015214.3(DDHD2):c.227G>A (p.Gly76Asp)	DDHD2 (G76D)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 1438737	NM_015214.3(DDHD2):c.241G>A (p.Val81Ile)	DDHD2 (V81I)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 740949	NM_015214.3(DDHD2):c.267T>C (p.Tyr89=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1336329	NM_015214.3(DDHD2):c.268G>A (p.Asp90Asn)	DDHD2 (D90N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 434904	NM_015214.3(DDHD2):c.277T>C (p.Leu93=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1503106	NM_015214.3(DDHD2):c.279G>T (p.Leu93Phe)	DDHD2 (L93F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1430470	NM_015214.3(DDHD2):c.280G>T (p.Gly94Trp)	DDHD2 (G94W)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 935989	NM_015214.3(DDHD2):c.292C>T (p.Arg98Trp)	DDHD2 (R98W)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2416406	NM_015214.3(DDHD2):c.296A>C (p.Tyr99Ser)	DDHD2 (Y99S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2692325	NM_015214.3(DDHD2):c.304T>C (p.Tyr102His)	DDHD2 (Y102H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1429613	NM_015214.3(DDHD2):c.312T>G (p.Asp104Glu)	DDHD2 (D104E)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2887328	NM_015214.3(DDHD2):c.321A>G (p.Ala107=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 503937	NM_015214.3(DDHD2):c.331_344del (p.Arg111fs)	DDHD2 (R111fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 638323	NM_015214.3(DDHD2):c.334C>T (p.Arg112Ter)	DDHD2 (R112*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 2078184	NM_015214.3(DDHD2):c.335G>T (p.Arg112Leu)	DDHD2 (R112L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 540291	NM_015214.3(DDHD2):c.335G>A (p.Arg112Gln)	DDHD2 (R112Q)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 3500260	NM_015214.3(DDHD2):c.337T>C (p.Cys113Arg)	DDHD2 (C113R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2777957	NM_015214.3(DDHD2):c.338G>T (p.Cys113Phe)	DDHD2 (C113F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 473073	NM_015214.3(DDHD2):c.342G>A (p.Thr114=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2527277	NM_015214.3(DDHD2):c.360C>G (p.Asp120Glu)	DDHD2 (D120E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1975747	NM_015214.3(DDHD2):c.368A>G (p.Asn123Ser)	DDHD2 (N123S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1462334	NM_015214.3(DDHD2):c.370A>G (p.Lys124Glu)	DDHD2 (K124E)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 473074	NM_015214.3(DDHD2):c.371del (p.Lys124fs)	DDHD2 (K124fs)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 679494	NM_015214.3(DDHD2):c.375T>C (p.Tyr125=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54 +3 more	GBenign/Likely benign
Select item 652678	NM_015214.3(DDHD2):c.379C>G (p.Pro127Ala)	DDHD2 (P127A)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1344302	NM_015214.3(DDHD2):c.381C>T (p.Pro127=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2040339	NM_015214.3(DDHD2):c.386C>T (p.Ser129Leu)	DDHD2 (S129L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 210841	NM_015214.3(DDHD2):c.387G>C (p.Ser129=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2736434	NM_015214.3(DDHD2):c.390G>A (p.Glu130=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1344303	NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg)	DDHD2 (S131R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GConflicting classifications of pathogenicity
Select item 1686646	NM_015214.3(DDHD2):c.400C>T (p.Gln134Ter)	DDHD2 (Q134*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2025193	NM_015214.3(DDHD2):c.411+4T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1344305	NM_015214.3(DDHD2):c.411+6C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 2071295	NM_015214.3(DDHD2):c.411+21_411+22del	DDHD2	Deletion (intron variant)	Hereditary spastic paraplegia 54	GBenign
Select item 1335858	NM_015214.3(DDHD2):c.411+200_411+201dup	DDHD2	Duplication (intron variant)	not provided	GLikely benign
Select item 1272223	NM_015214.3(DDHD2):c.411+201dup	DDHD2	Duplication (intron variant)	not provided	GBenign
Select item 2188521	NM_015214.3(DDHD2):c.412-11T>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 732375	NM_015214.3(DDHD2):c.412-8C>G	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 653596	NM_015214.3(DDHD2):c.420C>A (p.Tyr140Ter)	DDHD2 (Y140*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 540288	NM_015214.3(DDHD2):c.428C>T (p.Ala143Val)	DDHD2 (A143V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2694153	NM_015214.3(DDHD2):c.453_454del (p.Lys152fs)	DDHD2 (K152fs)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 1968325	NM_015214.3(DDHD2):c.453G>A (p.Lys151=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2202017	NM_015214.3(DDHD2):c.455A>G (p.Lys152Arg)	DDHD2 (K152R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1520252	NM_015214.3(DDHD2):c.467C>G (p.Pro156Arg)	DDHD2 (P156R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1414674	NM_015214.3(DDHD2):c.471C>A (p.Asn157Lys)	DDHD2 (N157K)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2868147	NM_015214.3(DDHD2):c.478ATT[2] (p.Ile162del)	DDHD2 (I162del)	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2600500	NM_015214.3(DDHD2):c.499A>G (p.Lys167Glu)	DDHD2 (K167E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1216004	NM_015214.3(DDHD2):c.501+172C>T	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990510	NM_015214.3(DDHD2):c.502-19C>A	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 698681	NM_015214.3(DDHD2):c.502-9C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign

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