3629[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
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 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 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 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 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 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 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 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 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 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	LOC129999890, LOC129999891 +88 more	Copy number gain	See cases	GUncertain significance
Select item 152873	GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3	BLK, CTSB +67 more	Copy number gain	See cases	GPathogenic
Select item 154899	GRCh38/hg38 8p23.1(chr8:11732785-11814529)x3	FDFT1, GATA4 +12 more	Copy number gain	See cases	GUncertain significance
Select item 152005	GRCh38/hg38 8p23.1(chr8:11739235-11803434)x1	FDFT1, GATA4 +8 more	Copy number loss	See cases	GPathogenic
Select item 151545	GRCh38/hg38 8p23.1(chr8:11773771-11821194)x1	FDFT1, LOC113788246 +9 more	Copy number loss	See cases	GLikely benign
Select item 151753	GRCh38/hg38 8p23.1(chr8:11794524-12041471)x1	CTSB, DEFB134 +21 more	Copy number loss	See cases	GUncertain significance
Select item 587362	NC_000008.11:g.11802586_11802601del	FDFT1, LOC129999903	Deletion (intron variant)	Squalene synthase deficiency	GLikely pathogenic
Select item 3048321	NM_004462.5(FDFT1):c.-2G>A	FDFT1	Single nucleotide variant (5 prime UTR variant +1 more)	FDFT1-related disorder	GLikely benign
Select item 1028763	NM_004462.5(FDFT1):c.19C>A (p.Leu7Ile)	FDFT1 (P2H +1 more)	Single nucleotide variant (missense variant +2 more)	Squalene synthase deficiency	GUncertain significance
Select item 2691547	NM_004462.5(FDFT1):c.87del (p.Lys30fs)	FDFT1 (K30fs)	Deletion (frameshift variant +2 more)	not specified	GUncertain significance
Select item 2499068	NM_004462.5(FDFT1):c.99+410G>A	FDFT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3054358	NM_004462.5(FDFT1):c.100-498C>T	FDFT1	Single nucleotide variant (intron variant +1 more)	FDFT1-related disorder	GBenign
Select item 1049617	NM_004462.5(FDFT1):c.100-232G>C	FDFT1, LOC129999907 (K15N)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2658413	NM_004462.5(FDFT1):c.100-208C>T	LOC129999907, FDFT1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2571307	NM_004462.5(FDFT1):c.100-179C>G	FDFT1, LOC129999907 (T33S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3037723	NM_004462.5(FDFT1):c.100-145C>G	FDFT1, LOC129999907	Single nucleotide variant (synonymous variant +1 more)	FDFT1-related disorder	GBenign
Select item 3050246	NM_004462.5(FDFT1):c.100-130C>G	FDFT1, LOC129999907 (D49E)	Single nucleotide variant (missense variant +1 more)	FDFT1-related disorder	GLikely benign
Select item 1805053	NM_004462.5(FDFT1):c.100-101G>A	FDFT1, LOC129999907 (W59*)	Single nucleotide variant (nonsense +1 more)	Squalene synthase deficiency	GUncertain significance
Select item 2579043	NM_004462.5(FDFT1):c.100-86_100-85insCTCCCA	FDFT1, LOC129999907	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3051193	NM_004462.5(FDFT1):c.100-84TCCCAC[10]	FDFT1	Microsatellite (inframe_indel +2 more)	not provided	GLikely benign
Select item 3043487	NM_004462.5(FDFT1):c.100-84TCCCAC[9]	FDFT1	Microsatellite (inframe_indel +2 more)	FDFT1-related disorder	GBenign
Select item 2631608	NM_004462.5(FDFT1):c.100-84TCCCAC[16]	FDFT1	Microsatellite (inframe_indel +2 more)	FDFT1-related disorder	GUncertain significance
Select item 2579044	NM_004462.5(FDFT1):c.100-85G>C	FDFT1 (Q64H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1301611	NM_004462.5(FDFT1):c.100-84TCCCAC[11]	FDFT1	Microsatellite (inframe_indel +2 more)	Squalene synthase deficiency +1 more	GUncertain significance
Select item 3060113	NM_004462.5(FDFT1):c.100-84TCCCAC[5]	FDFT1	Microsatellite (inframe_indel +2 more)	FDFT1-related disorder	GBenign
Select item 3057202	NM_004462.5(FDFT1):c.100-84TCCCAC[4]	FDFT1	Microsatellite (inframe_indel +2 more)	FDFT1-related disorder	GBenign
Select item 2658414	NM_004462.5(FDFT1):c.100-40C>T	FDFT1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1050011	NM_004462.5(FDFT1):c.110G>A (p.Ser37Asn)	FDFT1 (S37N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2373252	NM_004462.5(FDFT1):c.116G>C (p.Ser39Thr)	FDFT1 (S98T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 782853	NM_004462.5(FDFT1):c.120G>C (p.Leu40=)	FDFT1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1299105	NM_004462.5(FDFT1):c.129C>G (p.Cys43Trp)	FDFT1 (C102W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1285264	NM_004462.5(FDFT1):c.134A>G (p.Lys45Arg)	FDFT1 (K104R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 3094313	NM_004462.5(FDFT1):c.143A>G (p.Asn48Ser)	FDFT1 (N48S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3029035	NM_004462.5(FDFT1):c.174C>T (p.Ile58=)	FDFT1	Single nucleotide variant (synonymous variant +2 more)	FDFT1-related disorder	GLikely benign
Select item 778373	NM_004462.5(FDFT1):c.181C>T (p.Leu61=)	FDFT1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3058586	NM_004462.5(FDFT1):c.198-7T>A	FDFT1	Single nucleotide variant (intron variant)	FDFT1-related disorder	GLikely benign
Select item 3059443	NM_004462.5(FDFT1):c.201C>T (p.Asn67=)	FDFT1	Single nucleotide variant (synonymous variant +2 more)	FDFT1-related disorder	GBenign
Select item 3045075	NM_004462.5(FDFT1):c.260C>G (p.Thr87Ser)	FDFT1 (T146S +3 more)	Single nucleotide variant (missense variant +1 more)	FDFT1-related disorder	GLikely benign
Select item 2547238	NM_004462.5(FDFT1):c.295A>G (p.Asn99Asp)	FDFT1 (N35D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3350386	NM_004462.5(FDFT1):c.305C>G (p.Ser102Cys)	FDFT1 (S102C +3 more)	Single nucleotide variant (missense variant +1 more)	FDFT1-related disorder	GUncertain significance
Select item 2247681	NM_004462.5(FDFT1):c.308T>G (p.Phe103Cys)	FDFT1 (F162C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255015	NM_004462.5(FDFT1):c.319C>T (p.Pro107Ser)	FDFT1 (P166S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278439	NM_004462.5(FDFT1):c.364C>G (p.Leu122Val)	FDFT1 (L37V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397946	NM_004462.5(FDFT1):c.380C>T (p.Thr127Met)	FDFT1 (T186M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 599353	NC_000008.10:g.11667760_11787743del119984	CTSB, FDFT1 +10 more	Deletion	Squalene synthase deficiency	GLikely pathogenic
Select item 3040668	NM_004462.5(FDFT1):c.382-3dup	FDFT1	Duplication (intron variant)	FDFT1-related disorder	GLikely benign
Select item 2286103	NM_004462.5(FDFT1):c.386C>A (p.Ser129Tyr)	FDFT1 (S44Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094314	NM_004462.5(FDFT1):c.396T>G (p.Phe132Leu)	FDFT1 (F191L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094315	NM_004462.5(FDFT1):c.435C>A (p.Asp145Glu)	FDFT1 (D204E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2691504	NM_004462.5(FDFT1):c.452G>A (p.Gly151Asp)	FDFT1 (G151D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775083	NM_004462.5(FDFT1):c.459G>A (p.Gly153=)	FDFT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign

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