28984[HGNC] - 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 more	Copy number gain	See cases	GPathogenic
Select item 57127	GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3	FER1L6-AS2, LINC00964 +78 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 144941	GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3	LINC00964, LOC105375742 +29 more	Copy number gain	See cases	GUncertain significance
Select item 908286	NM_014846.4(WASHC5):c.*337A>G	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 361706	NM_014846.4(WASHC5):c.269_270del	WASHC5	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GLikely benign
Select item 908287	NM_014846.4(WASHC5):c.*218T>C	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GBenign
Select item 910235	NM_014846.4(WASHC5):c.*190C>T	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 910236	NM_014846.4(WASHC5):c.*177A>C	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 1344359	NM_014846.4(WASHC5):c.*125A>G	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 361707	NM_014846.4(WASHC5):c.*124A>C	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 361708	NM_014846.4(WASHC5):c.*78A>G	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GBenign
Select item 361709	NM_014846.4(WASHC5):c.*40del	WASHC5	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GLikely benign
Select item 219828	NM_014846.4(WASHC5):c.*3del	WASHC5	Deletion (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1344371	NM_014846.4(WASHC5):c.3470C>T (p.Thr1157Ile)	WASHC5 (T1009I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 3349854	NM_014846.4(WASHC5):c.3462G>T (p.Glu1154Asp)	WASHC5 (E1006D +1 more)	Single nucleotide variant (missense variant)	WASHC5-related disorder	GUncertain significance
Select item 2016979	NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)	WASHC5 (F1002L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 910237	NM_014846.4(WASHC5):c.3441G>A (p.Val1147=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 2261046	NM_014846.4(WASHC5):c.3439G>A (p.Val1147Met)	WASHC5 (V1147M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 361710	NM_014846.4(WASHC5):c.3438T>C (p.His1146=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 1030376	NM_014846.4(WASHC5):c.3424-1G>T	WASHC5	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 8	GLikely pathogenic
Select item 1966591	NM_014846.4(WASHC5):c.3424-19_3424-15del	WASHC5	Microsatellite (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 1278382	NM_014846.4(WASHC5):c.3424-118T>C	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683815	NM_014846.4(WASHC5):c.3423+289G>A	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293644	NM_014846.4(WASHC5):c.3423+237C>T	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 361711	NM_014846.4(WASHC5):c.3423+12_3423+15del	WASHC5	Microsatellite (intron variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 2056949	NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)	WASHC5 (R1134W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1108174	NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 970935	NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg)	WASHC5 (P971R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1293643	NM_014846.4(WASHC5):c.3335+219T>G	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241709	NM_014846.4(WASHC5):c.3335+46C>T	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248547	NM_014846.4(WASHC5):c.3335+24C>T	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2923563	NM_014846.4(WASHC5):c.3335+9G>T	WASHC5, LOC126860498	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 1434841	NM_014846.4(WASHC5):c.3335+5A>C	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 92129	NM_014846.4(WASHC5):c.3335+2T>A	LOC126860498, WASHC5	Single nucleotide variant (splice donor variant)	Ritscher-Schinzel syndrome 1 +1 more	GPathogenic
Select item 1056637	NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn)	LOC126860498, WASHC5 (S1112N +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 841833	NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr)	LOC126860498, WASHC5 (C962Y +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2933971	NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)	LOC126860498, WASHC5 (C1110R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 188277	NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)	LOC126860498, WASHC5 (V1107M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +4 more	GBenign/Likely benign
Select item 1677889	NM_014846.4(WASHC5):c.3317C>T (p.Thr1106Met)	LOC126860498, WASHC5 (T1106M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196031	NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr)	LOC126860498, WASHC5 (I1099T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +3 more	GUncertain significance
Select item 129376	NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 911127	NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GConflicting classifications of pathogenicity
Select item 1344370	NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +2 more	GConflicting classifications of pathogenicity
Select item 659325	NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)	LOC126860498, WASHC5 (R1090Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1331504	NM_014846.4(WASHC5):c.3262dup (p.His1088fs)	LOC126860498, WASHC5 (H1088fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2658800	NM_014846.4(WASHC5):c.3258G>A (p.Gln1086=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 361712	NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +5 more	GBenign/Likely benign
Select item 2932238	NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)	LOC126860498, WASHC5 (W1073R +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2159249	NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)	LOC126860498, WASHC5 (D1072N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1652774	NM_014846.4(WASHC5):c.3210G>T (p.Pro1070=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 463140	NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GConflicting classifications of pathogenicity
Select item 2431692	NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)	WASHC5, LOC126860498 (P1070fs +1 more)	Deletion (frameshift variant)	Ritscher-Schinzel syndrome 1	GLikely pathogenic
Select item 1986890	NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)	LOC126860498, WASHC5 (P922L +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2928009	NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)	LOC126860498, WASHC5 (D1069E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2178537	NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)	LOC126860498, WASHC5 (D921N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1375324	NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser)	LOC126860498, WASHC5 (T920S +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1530937	NM_014846.4(WASHC5):c.3201G>A (p.Pro1067=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 361713	NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu)	LOC126860498, WASHC5 (P1067L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 3255118	NM_014846.4(WASHC5):c.3193C>T (p.Arg1065Ter)	LOC126860498, WASHC5 (R1065* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1309821	NM_014846.4(WASHC5):c.3187G>C (p.Val1063Leu)	LOC126860498, WASHC5 (V1063L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256600	NM_014846.4(WASHC5):c.3182-2A>G	LOC126860498, WASHC5	Single nucleotide variant (splice acceptor variant)	Ritscher-Schinzel syndrome 1	GLikely pathogenic
Select item 2505489	NM_014846.4(WASHC5):c.3182-3C>T	WASHC5, LOC126860498	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 2931251	NM_014846.4(WASHC5):c.3182-16A>G	WASHC5, LOC126860498	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 683812	NM_014846.4(WASHC5):c.3181+288T>C	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682817	NM_014846.4(WASHC5):c.3181+36A>G	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389009	NM_014846.4(WASHC5):c.3181+4C>T	WASHC5	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1549859	NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2926101	NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)	WASHC5 (A1049V +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1677890	NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr)	WASHC5 (A1049T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
Select item 2926455	NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2172133	NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)	WASHC5 (N895K +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 930699	NM_014846.4(WASHC5):c.3122T>C (p.Ile1041Thr)	WASHC5 (I893T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1408475	NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val)	WASHC5 (I1041V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 911128	NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala)	WASHC5 (P892A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GConflicting classifications of pathogenicity
Select item 410081	NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His)	WASHC5 (R1035H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1503877	NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys)	WASHC5 (R1035C +1 more)	Single nucleotide variant (missense variant)	WASHC5-related disorder +2 more	GUncertain significance
Select item 1306430	NM_014846.4(WASHC5):c.3103C>G (p.Arg1035Gly)	WASHC5 (R1035G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2925324	NM_014846.4(WASHC5):c.3085-8C>T	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +2 more	GConflicting classifications of pathogenicity
Select item 1183588	NM_014846.4(WASHC5):c.3085-52G>A	WASHC5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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