12582[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 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	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 60388	GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1	CPQ, GDF6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1187612	NM_006294.5(UQCRB):c.154_164dup	UQCRB	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 215347	NM_006294.5(UQCRB):c.324G>T (p.Trp108Cys)	UQCRB (W108C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 444760	NM_006294.5(UQCRB):c.310G>T (p.Glu104Ter)	UQCRB (E104* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 286054	NM_006294.5(UQCRB):c.306_309del (p.Arg105fs)	UQCRB (R105fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 379798	NM_006294.5(UQCRB):c.279G>A (p.Pro93=)	UQCRB (R139H)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 1704766	NM_006294.5(UQCRB):c.278C>T (p.Pro93Leu)	UQCRB (P61L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 215348	NM_006294.5(UQCRB):c.274del (p.Glu92fs)	UQCRB (E60fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1189147	NM_006294.5(UQCRB):c.259-65C>T	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234097	NM_006294.5(UQCRB):c.259-165dup	UQCRB	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1213618	NM_006294.5(UQCRB):c.259-240G>A	UQCRB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 676767	NM_006294.5(UQCRB):c.259-274C>T	UQCRB (P123L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1246446	NM_006294.5(UQCRB):c.258+282C>T	UQCRB	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 811923	NM_006294.5(UQCRB):c.258+268G>A	UQCRB (V90I)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex III deficiency nuclear type 3 +1 more	GLikely benign
Select item 676764	NM_006294.5(UQCRB):c.258+213C>G	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219586	NM_006294.5(UQCRB):c.258+175C>T	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514264	NM_006294.5(UQCRB):c.258+7C>T	UQCRB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2479376	NM_006294.5(UQCRB):c.251A>G (p.Tyr84Cys)	UQCRB (Y52C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2037929	NM_006294.5(UQCRB):c.251A>T (p.Tyr84Phe)	UQCRB (Y84F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1199991	NM_006294.5(UQCRB):c.249A>C (p.Lys83Asn)	UQCRB (K51N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2809830	NM_006294.5(UQCRB):c.242G>A (p.Trp81Ter)	UQCRB (W81* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 288054	NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)	UQCRB (L67Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 137889	NM_006294.5(UQCRB):c.195G>A (p.Arg65=)	UQCRB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2051106	NM_006294.5(UQCRB):c.178A>T (p.Met60Leu)	UQCRB (M60L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2114873	NM_006294.5(UQCRB):c.171T>C (p.Asn57=)	UQCRB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079367	NM_006294.5(UQCRB):c.159G>A (p.Glu53=)	UQCRB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2551814	NM_006294.5(UQCRB):c.142A>T (p.Ile48Leu)	UQCRB (I16L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330027	NM_006294.5(UQCRB):c.112A>G (p.Ile38Val)	UQCRB (I6V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1624831	NM_006294.5(UQCRB):c.92-4A>G	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193387	NM_006294.5(UQCRB):c.92-29G>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294148	NM_006294.5(UQCRB):c.92-56dup	UQCRB	Duplication (intron variant)	not provided	GBenign
Select item 1204385	NM_006294.5(UQCRB):c.92-288A>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196916	NM_006294.5(UQCRB):c.91+224C>T	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254874	NM_006294.5(UQCRB):c.91+51dup	UQCRB	Duplication (intron variant)	not provided	GBenign
Select item 1202034	NM_006294.5(UQCRB):c.91+62G>T	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194509	NM_006294.5(UQCRB):c.91+30GTT[4]	UQCRB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1186980	NM_006294.5(UQCRB):c.91+36G>A	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137888	NM_006294.5(UQCRB):c.91+16G>C	UQCRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 390908	NM_006294.5(UQCRB):c.91+11G>C	UQCRB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1430342	NM_006294.5(UQCRB):c.82A>T (p.Asn28Tyr)	UQCRB (N28Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3331169	NM_006294.5(UQCRB):c.77G>T (p.Gly26Val)	UQCRB (G26V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 215346	NM_006294.5(UQCRB):c.56A>T (p.Lys19Ile)	UQCRB (K19I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 3331168	NM_006294.5(UQCRB):c.53G>A (p.Arg18Gln)	UQCRB (R18Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2330993	NM_006294.5(UQCRB):c.37T>C (p.Trp13Arg)	UQCRB (W13R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2781649	NM_006294.5(UQCRB):c.35A>T (p.Lys12Met)	UQCRB (K12M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3051736	NM_006294.5(UQCRB):c.20-6T>G	UQCRB	Single nucleotide variant (intron variant)	UQCRB-related disorder	GLikely benign
Select item 2888178	NM_006294.5(UQCRB):c.20-8A>G	UQCRB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2957487	NM_006294.5(UQCRB):c.20-16G>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215663	NM_006294.5(UQCRB):c.20-29G>A	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200319	NM_006294.5(UQCRB):c.20-45A>G	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678336	NM_006294.5(UQCRB):c.20-143T>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267794	NM_006294.5(UQCRB):c.20-300G>A	UQCRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684319	NM_006294.5(UQCRB):c.19+271T>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384986	NM_006294.5(UQCRB):c.19+13G>C	LOC130000789, UQCRB-AS1 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3069055	NM_006294.5(UQCRB):c.19G>T (p.Val7Phe)	UQCRB, UQCRB-AS1 +1 more (V7F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2458487	NM_006294.5(UQCRB):c.16G>T (p.Ala6Ser)	LOC130000789, UQCRB +1 more (A6S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1695234	NM_006294.5(UQCRB):c.12G>C (p.Lys4Asn)	LOC130000789, UQCRB +1 more (K4N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 137890	NM_006294.5(UQCRB):c.-13C>T	LOC130000789, UQCRB +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 383051	NM_006294.4(UQCRB):c.-39T>C	UQCRB, UQCRB-AS1	Single nucleotide variant	not specified	GLikely benign
Select item 675850	NM_006294.4(UQCRB):c.-100G>T	UQCRB, UQCRB-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1201217	NC_000008.11:g.96235727G>A	UQCRB, UQCRB-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1253307	NC_000008.11:g.96235770A>T	UQCRB, UQCRB-AS1	Single nucleotide variant	not provided	GBenign
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 2425970	NC_000008.10:g.(?_97156791)_(97345794_?)dup	GDF6, MTERF3 +2 more	Duplication	not provided	GUncertain significance
Select item 2423451	NC_000008.10:g.(?_96037237)_(97345794_?)dup	CFAP418, GDF6 +5 more	Duplication	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979843	GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3	CFAP418, CCNE2 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 815145	GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3	SDC2, CPQ +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 666435	GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3	CPQ, GDF6 +4 more	Copy number gain	Leri pleonosteosis	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563528	GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1	SDC2, UQCRB +5 more	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic

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