GEMIN4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	LOC130059960, LOC130059961 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 152858	GRCh38/hg38 17p13.3(chr17:179378-813490)x1	DOC2B, GEMIN4 +35 more	Copy number loss	See cases	GUncertain significance
Select item 154410	GRCh38/hg38 17p13.3(chr17:186959-969740)x1	GEMIN4, GLOD4 +39 more	Copy number loss	See cases	GUncertain significance
Select item 59543	GRCh38/hg38 17p13.3(chr17:193307-1376276)x1	ABR, ABR-AS1 +56 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	ABR, ABR-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	CRK, DPH1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	ABR, ABR-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	ABR, ABR-AS1 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 60095	GRCh38/hg38 17p13.3(chr17:258417-770280)x3	GEMIN4, GLOD4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 60096	GRCh38/hg38 17p13.3(chr17:279611-848014)x3	GEMIN4, GLOD4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 147604	GRCh38/hg38 17p13.3(chr17:333871-880361)x3	LOC130059863, LOC130059864 +33 more	Copy number gain	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 147603	GRCh38/hg38 17p13.3(chr17:445331-823474)x3	GEMIN4, GLOD4 +23 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148727	GRCh38/hg38 17p13.3(chr17:523549-1311896)x1	ABR, ABR-AS1 +41 more	Copy number loss	See cases	GLikely benign
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	ABR, ABR-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 151508	GRCh38/hg38 17p13.3(chr17:722176-775586)x3	GEMIN4, GLOD4 +8 more	Copy number gain	See cases	GLikely benign
Select item 3099354	NM_015721.3(GEMIN4):c.3143G>A (p.Arg1048His)	GEMIN4 (R836H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405901	NM_015721.3(GEMIN4):c.3139C>T (p.Arg1047Trp)	GEMIN4 (R835W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647165	NM_015721.3(GEMIN4):c.3127G>A (p.Gly1043Ser)	GEMIN4 (G1043S +1 more)	Single nucleotide variant (missense variant)	GEMIN4-related disorder +1 more	GBenign/Likely benign
Select item 3057158	NM_015721.3(GEMIN4):c.3126C>T (p.Ile1042=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GBenign
Select item 1182789	NM_015721.3(GEMIN4):c.3097C>T (p.Arg1033Cys)	GEMIN4 (R1033C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 638472	NM_015721.3(GEMIN4):c.3094C>T (p.Gln1032Ter)	GEMIN4 (Q1032*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2647166	NM_015721.3(GEMIN4):c.3090C>T (p.His1030=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221084	NM_015721.3(GEMIN4):c.3068G>A (p.Ser1023Asn)	GEMIN4 (S811N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities +2 more	GConflicting classifications of pathogenicity
Select item 2432105	NM_015721.3(GEMIN4):c.3032G>A (p.Cys1011Tyr)	GEMIN4 (C1011Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 721126	NM_015721.3(GEMIN4):c.3004T>C (p.Tyr1002His)	GEMIN4 (Y1002H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734199	NM_015721.3(GEMIN4):c.2974A>G (p.Met992Val)	GEMIN4 (M992V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268164	NM_015721.3(GEMIN4):c.2956G>C (p.Ala986Pro)	GEMIN4 (A986P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291764	NM_015721.3(GEMIN4):c.2935T>C (p.Tyr979His)	GEMIN4 (Y767H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099352	NM_015721.3(GEMIN4):c.2924C>A (p.Ala975Asp)	GEMIN4 (A763D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647167	NM_015721.3(GEMIN4):c.2883C>T (p.Gly961=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235583	NM_015721.3(GEMIN4):c.2864G>A (p.Arg955Lys)	GEMIN4 (R743K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286375	NM_015721.3(GEMIN4):c.2856C>G (p.Asp952Glu)	GEMIN4 (D952E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304735	NM_015721.3(GEMIN4):c.2838T>G (p.Ser946Arg)	GEMIN4 (S734R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051704	NM_015721.3(GEMIN4):c.2835C>A (p.Gly945=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3039983	NM_015721.3(GEMIN4):c.2832T>C (p.Cys944=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 1185306	NM_015721.3(GEMIN4):c.2785G>A (p.Asp929Asn)	GEMIN4 (D929N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 780322	NM_015721.3(GEMIN4):c.2737G>A (p.Val913Ile)	GEMIN4 (V913I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305390	NM_015721.3(GEMIN4):c.2702A>G (p.Asn901Ser)	GEMIN4 (N901S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339950	NM_015721.3(GEMIN4):c.2699T>G (p.Leu900Arg)	GEMIN4 (L688R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488402	NM_015721.3(GEMIN4):c.2649G>C (p.Gln883His)	GEMIN4 (Q883H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378741	NM_015721.3(GEMIN4):c.2618A>G (p.His873Arg)	GEMIN4 (H661R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322979	NM_015721.3(GEMIN4):c.2614C>G (p.Leu872Val)	GEMIN4 (L872V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298714	NM_015721.3(GEMIN4):c.2612G>A (p.Arg871His)	GEMIN4 (R659H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432106	NM_015721.3(GEMIN4):c.2569C>G (p.Leu857Val)	GEMIN4 (L645V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2382520	NM_015721.3(GEMIN4):c.2533G>A (p.Glu845Lys)	GEMIN4 (E633K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053747	NM_015721.3(GEMIN4):c.2532G>A (p.Glu844=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3099350	NM_015721.3(GEMIN4):c.2512G>A (p.Val838Met)	GEMIN4 (V626M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335238	NM_015721.3(GEMIN4):c.2478C>T (p.Ser826=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099349	NM_015721.3(GEMIN4):c.2474C>A (p.Ser825Tyr)	GEMIN4 (S825Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183310	NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg)	GEMIN4 (W818R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GLikely pathogenic
Select item 2405040	NM_015721.3(GEMIN4):c.2441G>A (p.Gly814Glu)	GEMIN4 (G602E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051773	NM_015721.3(GEMIN4):c.2436C>G (p.Gly812=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 795178	NM_015721.3(GEMIN4):c.2427C>T (p.Tyr809=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2263678	NM_015721.3(GEMIN4):c.2426A>C (p.Tyr809Ser)	GEMIN4 (Y809S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647168	NM_015721.3(GEMIN4):c.2424G>A (p.Gly808=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787987	NM_015721.3(GEMIN4):c.2346C>G (p.Phe782Leu)	GEMIN4 (F782L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2559957	NM_015721.3(GEMIN4):c.2335G>A (p.Glu779Lys)	GEMIN4 (E779K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040236	NM_015721.3(GEMIN4):c.2319G>A (p.Arg773=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 2296124	NM_015721.3(GEMIN4):c.2267T>G (p.Leu756Arg)	GEMIN4 (L544R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027999	NM_015721.3(GEMIN4):c.2264C>T (p.Ser755Phe)	GEMIN4 (S755F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities +1 more	GUncertain significance
Select item 3099348	NM_015721.3(GEMIN4):c.2243C>T (p.Ser748Phe)	GEMIN4 (S536F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373125	NM_015721.3(GEMIN4):c.2218G>A (p.Val740Ile)	GEMIN4 (V528I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1185307	NM_015721.3(GEMIN4):c.2216T>C (p.Ile739Thr)	GEMIN4 (I739T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities +1 more	GBenign
Select item 715688	NM_015721.3(GEMIN4):c.2197C>T (p.Leu733=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2264057	NM_015721.3(GEMIN4):c.2194A>G (p.Ile732Val)	GEMIN4 (I520V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253014	NM_015721.3(GEMIN4):c.2164T>C (p.Ser722Pro)	GEMIN4 (S722P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401505	NM_015721.3(GEMIN4):c.2156G>A (p.Arg719Gln)	GEMIN4 (R719Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777080	NM_015721.3(GEMIN4):c.2119C>T (p.Arg707Cys)	GEMIN4 (R707C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1185308	NM_015721.3(GEMIN4):c.2051G>A (p.Arg684Gln)	GEMIN4 (R684Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3099347	NM_015721.3(GEMIN4):c.2018T>G (p.Ile673Ser)	GEMIN4 (I461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068098	NM_015721.3(GEMIN4):c.2006_2010del (p.Leu669fs)	GEMIN4 (L669fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2373549	NM_015721.3(GEMIN4):c.1966G>T (p.Val656Phe)	GEMIN4 (V444F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248904	NM_015721.3(GEMIN4):c.1964T>G (p.Phe655Cys)	GEMIN4 (F655C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1938180	NM_015721.3(GEMIN4):c.1912C>T (p.Gln638Ter)	GEMIN4 (Q638* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3039695	NM_015721.3(GEMIN4):c.1902C>T (p.Pro634=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GBenign
Select item 1705216	NM_015721.3(GEMIN4):c.1852C>T (p.Pro618Ser)	GEMIN4 (P406S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099346	NM_015721.3(GEMIN4):c.1831G>A (p.Val611Ile)	GEMIN4 (V611I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099345	NM_015721.3(GEMIN4):c.1802C>G (p.Thr601Ser)	GEMIN4 (T389S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250934	NM_015721.3(GEMIN4):c.1795T>C (p.Ser599Pro)	GEMIN4 (S599P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1031937	NM_015721.3(GEMIN4):c.1787C>T (p.Pro596Leu)	GEMIN4 (P596L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 1222413	NM_015721.3(GEMIN4):c.1778A>T (p.Glu593Val)	GEMIN4 (E593V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2373064	NM_015721.3(GEMIN4):c.1771G>A (p.Val591Met)	GEMIN4 (V379M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613633	NM_015721.3(GEMIN4):c.1739A>C (p.Gln580Pro)	GEMIN4 (Q580P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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