12566[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	LOC129662434, LOC130001682 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 3186474	NM_001371189.2(UNC13B):c.116G>A (p.Arg39His)	UNC13B (R39H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221816	NM_001371189.2(UNC13B):c.130T>G (p.Ser44Ala)	UNC13B (S44A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2446415	NM_001371189.2(UNC13B):c.135G>A (p.Trp45Ter)	UNC13B (W45*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2227329	NM_001371189.2(UNC13B):c.164G>A (p.Arg55His)	UNC13B (R6H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283890	NM_001371189.2(UNC13B):c.193T>C (p.Trp65Arg)	UNC13B (W16R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186480	NM_001371189.2(UNC13B):c.242C>T (p.Ala81Val)	UNC13B (A32V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595628	NM_001371189.2(UNC13B):c.256C>T (p.Arg86Cys)	UNC13B (R37C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378363	NM_001371189.2(UNC13B):c.257G>A (p.Arg86His)	UNC13B (R86H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389754	NM_001371189.2(UNC13B):c.304G>A (p.Glu102Lys)	UNC13B (E102K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186483	NM_001371189.2(UNC13B):c.322G>A (p.Asp108Asn)	UNC13B (D59N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345039	NM_001371189.2(UNC13B):c.393T>G (p.Phe131Leu)	UNC13B (F82L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465748	NM_001371189.2(UNC13B):c.425C>A (p.Thr142Asn)	UNC13B (T142N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186492	NM_001371189.2(UNC13B):c.446A>G (p.Asn149Ser)	UNC13B (N100S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207594	NM_001371189.2(UNC13B):c.464A>G (p.Asn155Ser)	UNC13B (N106S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659172	NM_001371189.2(UNC13B):c.468+2T>G	UNC13B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2461977	NM_001371189.2(UNC13B):c.491A>G (p.Gln164Arg)	UNC13B (Q115R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186497	NM_001371189.2(UNC13B):c.498G>T (p.Lys166Asn)	UNC13B (K117N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533590	NM_001371189.2(UNC13B):c.500C>A (p.Pro167Gln)	UNC13B (P167Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363654	NM_001371189.2(UNC13B):c.550G>A (p.Val184Ile)	UNC13B (V135I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186498	NM_001371189.2(UNC13B):c.553G>A (p.Asp185Asn)	UNC13B (D185N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186499	NM_001371189.2(UNC13B):c.559C>G (p.Arg187Gly)	UNC13B (R138G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354784	NM_001371189.2(UNC13B):c.602C>T (p.Pro201Leu)	UNC13B (P201L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186500	NM_001371189.2(UNC13B):c.661C>G (p.Arg221Gly)	UNC13B (R172G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2462479	NM_001371189.2(UNC13B):c.688G>C (p.Gly230Arg)	UNC13B (G230R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774465	NM_001371189.2(UNC13B):c.714C>A (p.Asp238Glu)	UNC13B (D238E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2337824	NM_001371189.2(UNC13B):c.718A>G (p.Met240Val)	UNC13B (M240V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3250777	NM_001371189.2(UNC13B):c.4031A>G (p.Tyr1344Cys)	UNC13B (Y1344C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1701769	NM_001371189.2(UNC13B):c.4216G>A (p.Asp1406Asn)	UNC13B (D1406N)	Single nucleotide variant (missense variant +1 more)	UNC13B-related seizure disorder	GUncertain significance
Select item 2363706	NM_001371189.2(UNC13B):c.9059G>A (p.Ser3020Asn)	UNC13B (S3020N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186501	NM_001371189.2(UNC13B):c.9107A>G (p.His3036Arg)	UNC13B (H299R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2597796	NM_001371189.2(UNC13B):c.9110G>A (p.Arg3037Gln)	UNC13B (R288Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186502	NM_001371189.2(UNC13B):c.9137A>G (p.His3046Arg)	UNC13B (H297R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230558	NM_001371189.2(UNC13B):c.9211C>G (p.Gln3071Glu)	UNC13B (Q273E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2588855	NM_001371189.2(UNC13B):c.9256G>T (p.Asp3086Tyr)	UNC13B (D349Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186473	NM_001371189.2(UNC13B):c.9277C>T (p.Pro3093Ser)	UNC13B (P295S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525768	NM_001371189.2(UNC13B):c.9376A>G (p.Ile3126Val)	UNC13B (I328V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621865	NM_001371189.2(UNC13B):c.9446A>G (p.Gln3149Arg)	UNC13B (Q3149R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490829	NM_001371189.2(UNC13B):c.9625G>A (p.Val3209Met)	UNC13B (V411M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210282	NM_001371189.2(UNC13B):c.9698C>T (p.Thr3233Met)	UNC13B (T484M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784143	NM_001371189.2(UNC13B):c.9699G>A (p.Thr3233=)	UNC13B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2240540	NM_001371189.2(UNC13B):c.9719G>A (p.Cys3240Tyr)	UNC13B (C3240Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365868	NM_001371189.2(UNC13B):c.9754C>T (p.Arg3252Trp)	UNC13B (R515W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659173	NM_001371189.2(UNC13B):c.9766C>T (p.Arg3256Cys)	UNC13B (R137C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2209012	NM_001371189.2(UNC13B):c.9774C>A (p.Ser3258Arg)	UNC13B (S3258R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560625	NM_001371189.2(UNC13B):c.9920G>A (p.Arg3307Gln)	UNC13B (R3307Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186475	NM_001371189.2(UNC13B):c.9955C>T (p.Arg3319Trp)	UNC13B (R521W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346026	NM_001371189.2(UNC13B):c.9974A>T (p.Asn3325Ile)	UNC13B (N588I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186477	NM_001371189.2(UNC13B):c.10051A>G (p.Ile3351Val)	UNC13B (I614V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228999	NM_001371189.2(UNC13B):c.10081C>G (p.Leu3361Val)	UNC13B (L242V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347673	NM_001371189.2(UNC13B):c.10148A>G (p.Lys3383Arg)	UNC13B (K585R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226966	NM_001371189.2(UNC13B):c.10201C>T (p.His3401Tyr)	UNC13B (H1032Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659174	NM_001371189.2(UNC13B):c.10251T>C (p.Asp3417=)	UNC13B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2459533	NM_001371189.2(UNC13B):c.10295G>A (p.Arg3432Gln)	UNC13B (R313Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406761	NM_001371189.2(UNC13B):c.10337G>A (p.Arg3446Gln)	UNC13B (R1077Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618222	NM_001371189.2(UNC13B):c.10384A>G (p.Thr3462Ala)	UNC13B (T1093A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659175	NM_001371189.2(UNC13B):c.10516A>T (p.Ile3506Phe)	UNC13B (I1137F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2219062	NM_001371189.2(UNC13B):c.10526G>T (p.Ser3509Ile)	UNC13B (S3509I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523990	NM_001371189.2(UNC13B):c.10537C>T (p.Arg3513Cys)	UNC13B (R394C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350485	NM_001371189.2(UNC13B):c.10553G>A (p.Arg3518Gln)	UNC13B (R720Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186479	NM_001371189.2(UNC13B):c.10564G>A (p.Ala3522Thr)	UNC13B (A403T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186481	NM_001371189.2(UNC13B):c.10690C>T (p.Pro3564Ser)	UNC13B (P766S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260506	NM_001371189.2(UNC13B):c.10724C>T (p.Ala3575Val)	UNC13B (A456V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297241	NM_001371189.2(UNC13B):c.10739A>G (p.Tyr3580Cys)	UNC13B (Y461C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186482	NM_001371189.2(UNC13B):c.10810G>A (p.Glu3604Lys)	UNC13B (E1235K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355400	NM_001371189.2(UNC13B):c.11073A>T (p.Leu3691Phe)	UNC13B (L3691F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515466	NM_001371189.2(UNC13B):c.11273A>G (p.His3758Arg)	UNC13B (H1008R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308327	NM_001371189.2(UNC13B):c.11358C>A (p.His3786Gln)	UNC13B (H1037Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219204	NM_001371189.2(UNC13B):c.11414G>A (p.Gly3805Glu)	UNC13B (G1435E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526588	NM_001371189.2(UNC13B):c.11422C>T (p.Pro3808Ser)	UNC13B (P1059S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595252	NM_001371189.2(UNC13B):c.11452G>A (p.Val3818Met)	UNC13B (V1068M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186484	NM_001371189.2(UNC13B):c.11482G>C (p.Val3828Leu)	UNC13B (V3828L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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