GEMIN4[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405901	NM_015721.3(GEMIN4):c.3139C>T (p.Arg1047Trp)	GEMIN4 (R835W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition +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 condition	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)	Inborn genetic diseases +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)	Inborn genetic diseases	GUncertain significance
Select item 2291764	NM_015721.3(GEMIN4):c.2935T>C (p.Tyr979His)	GEMIN4 (Y767H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2286375	NM_015721.3(GEMIN4):c.2856C>G (p.Asp952Glu)	GEMIN4 (D952E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304735	NM_015721.3(GEMIN4):c.2838T>G (p.Ser946Arg)	GEMIN4 (S734R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051704	NM_015721.3(GEMIN4):c.2835C>A (p.Gly945=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related condition	GLikely benign
Select item 3039983	NM_015721.3(GEMIN4):c.2832T>C (p.Cys944=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related condition	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)	Inborn genetic diseases	GUncertain significance
Select item 2339950	NM_015721.3(GEMIN4):c.2699T>G (p.Leu900Arg)	GEMIN4 (L688R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488402	NM_015721.3(GEMIN4):c.2649G>C (p.Gln883His)	GEMIN4 (Q883H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378741	NM_015721.3(GEMIN4):c.2618A>G (p.His873Arg)	GEMIN4 (H661R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322979	NM_015721.3(GEMIN4):c.2614C>G (p.Leu872Val)	GEMIN4 (L872V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298714	NM_015721.3(GEMIN4):c.2612G>A (p.Arg871His)	GEMIN4 (R659H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3053747	NM_015721.3(GEMIN4):c.2532G>A (p.Glu844=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related condition	GLikely benign
Select item 1335238	NM_015721.3(GEMIN4):c.2478C>T (p.Ser826=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	Inborn genetic diseases	GUncertain significance
Select item 3051773	NM_015721.3(GEMIN4):c.2436C>G (p.Gly812=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related condition	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3040236	NM_015721.3(GEMIN4):c.2319G>A (p.Arg773=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related condition	GLikely benign
Select item 2296124	NM_015721.3(GEMIN4):c.2267T>G (p.Leu756Arg)	GEMIN4 (L544R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2373125	NM_015721.3(GEMIN4):c.2218G>A (p.Val740Ile)	GEMIN4 (V528I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1185307	NM_015721.3(GEMIN4):c.2216T>C (p.Ile739Thr)	GEMIN4 (I739T)	Single nucleotide variant (missense variant)	GEMIN4-related condition +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)	Inborn genetic diseases	GUncertain significance
Select item 2253014	NM_015721.3(GEMIN4):c.2164T>C (p.Ser722Pro)	GEMIN4 (S722P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401505	NM_015721.3(GEMIN4):c.2156G>A (p.Arg719Gln)	GEMIN4 (R719Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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)	Inborn genetic diseases	GUncertain significance
Select item 2248904	NM_015721.3(GEMIN4):c.1964T>G (p.Phe655Cys)	GEMIN4 (F655C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	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 2250934	NM_015721.3(GEMIN4):c.1795T>C (p.Ser599Pro)	GEMIN4 (S599P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	GEMIN4-related condition +1 more	GBenign
Select item 2373064	NM_015721.3(GEMIN4):c.1771G>A (p.Val591Met)	GEMIN4 (V379M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613633	NM_015721.3(GEMIN4):c.1739A>C (p.Gln580Pro)	GEMIN4 (Q580P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1185309	NM_015721.3(GEMIN4):c.1736C>G (p.Ala579Gly)	GEMIN4 (A579G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2282032	NM_015721.3(GEMIN4):c.1715T>G (p.Leu572Arg)	GEMIN4 (L360R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771202	NM_015721.3(GEMIN4):c.1712A>G (p.Asn571Ser)	GEMIN4 (N571S)	Single nucleotide variant (missense variant)	GEMIN4-related condition +1 more	GLikely benign
Select item 748939	NM_015721.3(GEMIN4):c.1671G>A (p.Pro557=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 726891	NM_015721.3(GEMIN4):c.1667A>G (p.His556Arg)	GEMIN4 (H556R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2209655	NM_015721.3(GEMIN4):c.1636G>A (p.Val546Met)	GEMIN4 (V546M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294569	NM_015721.3(GEMIN4):c.1596G>C (p.Gln532His)	GEMIN4 (Q320H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715039	NM_015721.3(GEMIN4):c.1585A>T (p.Thr529Ser)	GEMIN4 (T529S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 983113	NM_015721.3(GEMIN4):c.1580A>G (p.Asn527Ser)	GEMIN4 (N527S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 3051179	NM_015721.3(GEMIN4):c.1523G>A (p.Arg508Gln)	GEMIN4 (R296Q +1 more)	Single nucleotide variant (missense variant)	GEMIN4-related condition	GLikely benign
Select item 2567535	NM_015721.3(GEMIN4):c.1511G>A (p.Arg504His)	GEMIN4 (R292H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 780386	NM_015721.3(GEMIN4):c.1504A>G (p.Ile502Val)	GEMIN4 (I502V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2600541	NM_015721.3(GEMIN4):c.1502G>T (p.Gly501Val)	GEMIN4 (G501V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359614	NM_015721.3(GEMIN4):c.1429C>T (p.Arg477Trp)	GEMIN4 (R265W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432103	NM_015721.3(GEMIN4):c.1406G>A (p.Arg469Lys)	GEMIN4 (R257K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2432102	NM_015721.3(GEMIN4):c.1405A>G (p.Arg469Gly)	GEMIN4 (R257G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 2317593	NM_015721.3(GEMIN4):c.1394G>A (p.Ser465Asn)	GEMIN4 (S253N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328415	NM_015721.3(GEMIN4):c.1384A>G (p.Ile462Val)	GEMIN4 (I250V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259806	NM_015721.3(GEMIN4):c.1372C>G (p.Leu458Val)	GEMIN4 (L246V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1185310	NM_015721.3(GEMIN4):c.1348C>G (p.Gln450Glu)	GEMIN4 (Q450E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GBenign
Select item 932347	NM_015721.3(GEMIN4):c.1336G>A (p.Ala446Thr)	GEMIN4 (A446T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2475861	NM_015721.3(GEMIN4):c.1320C>G (p.Cys440Trp)	GEMIN4 (C228W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738857	NM_015721.3(GEMIN4):c.1317C>T (p.Ala439=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778650	NM_015721.3(GEMIN4):c.1299C>T (p.Phe433=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2344485	NM_015721.3(GEMIN4):c.1249C>T (p.Arg417Cys)	GEMIN4 (R205C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048162	NM_015721.3(GEMIN4):c.1227C>T (p.Ala409=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related condition	GLikely benign
Select item 794644	NM_015721.3(GEMIN4):c.1176G>A (p.Thr392=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335239	NM_015721.3(GEMIN4):c.1169C>T (p.Thr390Met)	GEMIN4 (T390M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2647169	NM_015721.3(GEMIN4):c.1143G>A (p.Glu381=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647170	NM_015721.3(GEMIN4):c.1139C>T (p.Ala380Val)	GEMIN4 (A168V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025552	NM_015721.3(GEMIN4):c.1131T>G (p.Ser377=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768808	NM_015721.3(GEMIN4):c.1127T>C (p.Val376Ala)	GEMIN4 (V376A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1810118	NM_015721.3(GEMIN4):c.1120C>T (p.Gln374Ter)	GEMIN4 (Q162* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2411591	NM_015721.3(GEMIN4):c.1100G>A (p.Ser367Asn)	GEMIN4 (S367N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296505	NM_015721.3(GEMIN4):c.1079C>T (p.Thr360Met)	GEMIN4 (T360M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547656	NM_015721.3(GEMIN4):c.1076C>T (p.Ala359Val)	GEMIN4 (A147V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647171	NM_015721.3(GEMIN4):c.1074C>T (p.Asn358=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related condition +1 more	GLikely benign
Select item 2408004	NM_015721.3(GEMIN4):c.1048G>A (p.Asp350Asn)	GEMIN4 (D350N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770260	NM_015721.3(GEMIN4):c.1047C>T (p.Cys349=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related condition +1 more	GBenign
Select item 2469448	NM_015721.3(GEMIN4):c.1025G>A (p.Ser342Asn)	GEMIN4 (S342N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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