ClinVar for MedGen (Select 1648410) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341295	NM_203447.4(DOCK8):c.4659G>T (p.Met1553Ile)	DOCK8 (M1453I +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 3067972	NM_203447.4:c.-469_156+28del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 3067870	NM_203447.4(DOCK8):c.387G>C (p.Trp129Cys)	DOCK8 (W129C +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 3065780	NM_203447.4(DOCK8):c.1797+1G>T	DOCK8	Single nucleotide variant (splice donor variant)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 3061807	NM_203447.4(DOCK8):c.3152del (p.Ser1051fs)	DOCK8 (S1051fs +2 more)	Deletion (frameshift variant)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 2682525	NC_000009.11:g.(332479_334224)_(422136_426884)del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 2671793	NM_203447.4(DOCK8):c.4626+1G>A	DOCK8	Single nucleotide variant (splice donor variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 2664205	NM_203447.4(DOCK8):c.6146del (p.Asn2049fs)	DOCK8 (N1949fs +2 more)	Deletion (frameshift variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2627417	NM_203447.4(DOCK8):c.5431_5433delinsCAA (p.Glu1811Gln)	DOCK8 (E1711Q +2 more)	Indel (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2627416	NM_203447.4(DOCK8):c.5311dup (p.Thr1771fs)	DOCK8 (T1671fs +2 more)	Duplication (frameshift variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 2585629	NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)	DOCK8 (T1720fs +2 more)	Duplication (frameshift variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 2585017	NM_203447.4(DOCK8):c.2452del (p.Gln818fs)	DOCK8 (Q818fs +1 more)	Deletion (frameshift variant)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 2584447	NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)	DOCK8 (E385* +1 more)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 2440992	NM_203447.4(DOCK8):c.6147C>G (p.Asn2049Lys)	DOCK8 (N1949K +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2440991	NM_203447.4(DOCK8):c.4474-26C>T	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2431914	NC_000009.12:g.(333421_334903)del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 2427726	NC_000009.11:g.(?_463497)_(745235_?)dup	DOCK8, KANK1	Duplication	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 2427725	NC_000009.11:g.(?_271607)_(464219_?)dup	DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2427724	NC_000009.11:g.(?_367998)_(713484_?)dup	DOCK8, KANK1	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2427723	NC_000009.11:g.(?_338986)_(464219_?)dup	DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2427722	NC_000009.11:g.(?_214977)_(286656_?)dup	DOCK8, DOCK8-AS1	Duplication	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 2427721	NC_000009.11:g.(?_214977)_(340341_?)del	DOCK8, DOCK8-AS1	Deletion	+1 more	GPathogenic
Select item 2427718	NC_000009.11:g.(?_404898)_(464219_?)dup	DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2427717	NC_000009.11:g.(?_396765)_(464219_?)dup	DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2427712	NC_000009.11:g.(?_334205)_(464219_?)dup	DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2427711	NC_000009.11:g.(?_214977)_(328191_?)dup	DOCK8, DOCK8-AS1	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2427704	NC_000009.11:g.(?_304561)_(317148_?)del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2202392	NM_203447.4(DOCK8):c.5116T>G (p.Ser1706Ala)	DOCK8 (S1606A +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2192847	NM_203447.4(DOCK8):c.14C>G (p.Pro5Arg)	DOCK8, DOCK8-AS1 +1 more (P5R)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2183978	NM_203447.4(DOCK8):c.379C>T (p.Arg127Cys)	DOCK8 (R127C +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2168325	NM_203447.4(DOCK8):c.3003G>A (p.Met1001Ile)	DOCK8 (M901I +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2162684	NM_203447.4(DOCK8):c.300T>C (p.Cys100=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2159464	NM_203447.4(DOCK8):c.3637G>A (p.Ala1213Thr)	DOCK8 (A1145T +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2144581	NM_203447.4(DOCK8):c.828G>A (p.Lys276=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2141560	NM_203447.4(DOCK8):c.1115A>G (p.Asp372Gly)	DOCK8 (D372G +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2139643	NM_203447.4(DOCK8):c.3886C>T (p.Leu1296Phe)	DOCK8 (L1296F +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2129812	NM_203447.4(DOCK8):c.196G>A (p.Gly66Arg)	DOCK8, LOC126860552 (G66R)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2123192	NM_203447.4(DOCK8):c.398A>G (p.Asn133Ser)	DOCK8 (N133S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2096474	NM_203447.4(DOCK8):c.3323A>C (p.Asn1108Thr)	DOCK8 (N1040T +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2093094	NM_203447.4(DOCK8):c.1432C>T (p.Arg478Cys)	DOCK8 (R478C +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2075480	NM_203447.4(DOCK8):c.6202C>G (p.Leu2068Val)	DOCK8 (L1968V +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2058961	NM_203447.4(DOCK8):c.1844A>G (p.Tyr615Cys)	DOCK8 (Y547C +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2050111	NM_203447.4(DOCK8):c.1139T>C (p.Ile380Thr)	DOCK8 (I312T +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1963343	NM_203447.4(DOCK8):c.3936T>G (p.Ile1312Met)	DOCK8 (I1244M +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1958434	NM_203447.4(DOCK8):c.5711G>C (p.Arg1904Pro)	DOCK8 (R1804P +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1902969	NM_203447.4(DOCK8):c.5812G>A (p.Glu1938Lys)	DOCK8 (E1938K +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1899093	NM_203447.4(DOCK8):c.323C>T (p.Pro108Leu)	DOCK8, LOC126860552 (P108L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1896525	NM_203447.4(DOCK8):c.6134A>C (p.Glu2045Ala)	DOCK8 (E2045A +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1804645	NG_017007.1:g.1_236742del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1804644	NM_203447.4(DOCK8):c.5961+791_6068+2021del	DOCK8	Deletion (splice acceptor variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1803211	NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)	DOCK8 (N1295fs +2 more)	Duplication (frameshift variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 1716432	NM_203447.4(DOCK8):c.3340A>G (p.Met1114Val)	DOCK8 (M1014V +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1711111	NC_000009.12:g.139481_407477del	DOCK8, DOCK8-AS1 +9 more	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1711110	NM_203447.4(DOCK8):c.5309_5310del (p.Leu1770fs)	DOCK8 (L1670fs +2 more)	Deletion (frameshift variant)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1711109	NC_000009.12:g.364057_404510dup	DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1711108	NM_203447.4(DOCK8):c.5287C>T (p.Arg1763Ter)	DOCK8 (R1763* +2 more)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1711107	NM_203447.4(DOCK8):c.2206-2A>G	DOCK8	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1687201	NM_203447.4(DOCK8):c.4223C>G (p.Ala1408Gly)	DOCK8 (A1308G +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1685303	NM_203447.4(DOCK8):c.2007+2T>G	DOCK8	Single nucleotide variant (splice donor variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 1669739	NM_203447.4(DOCK8):c.1680-20C>G	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely benign
Select item 1613824	NM_203447.4(DOCK8):c.3235-4C>A	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely benign
Select item 1529365	NM_203447.4(DOCK8):c.5334C>A (p.Ala1778=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely benign
Select item 1528939	NM_203447.4(DOCK8):c.1155C>A (p.Leu385=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely benign
Select item 1520873	NM_203447.4(DOCK8):c.2378A>T (p.His793Leu)	DOCK8 (H793L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1519569	NM_203447.4(DOCK8):c.1175A>G (p.Gln392Arg)	DOCK8 (Q324R +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1517507	NM_203447.4(DOCK8):c.664T>A (p.Phe222Ile)	DOCK8 (F222I +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1514846	NC_000009.11:g.(?_311934)_(332498_?)del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1512736	NM_203447.4(DOCK8):c.3381A>G (p.Ile1127Met)	DOCK8 (I1027M +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1509445	NM_203447.4(DOCK8):c.3374C>A (p.Pro1125His)	DOCK8 (P1125H +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1507745	NM_203447.4(DOCK8):c.5158G>T (p.Gly1720Cys)	DOCK8 (G1620C +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1507575	NM_203447.4(DOCK8):c.3559A>G (p.Ser1187Gly)	DOCK8 (S1087G +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1500655	NM_203447.4(DOCK8):c.4945G>A (p.Ala1649Thr)	DOCK8 (A1581T +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1496555	NM_203447.4(DOCK8):c.4946C>T (p.Ala1649Val)	DOCK8 (A1549V +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1495697	NM_203447.4(DOCK8):c.3134C>G (p.Ala1045Gly)	DOCK8 (A1045G +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1489020	NM_203447.4(DOCK8):c.3100C>G (p.Leu1034Val)	DOCK8 (L966V +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1486415	NM_203447.4(DOCK8):c.2710A>G (p.Ser904Gly)	DOCK8 (S904G +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1476783	NM_203447.4(DOCK8):c.3797A>G (p.Asn1266Ser)	DOCK8 (N1198S +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1473437	NM_203447.4(DOCK8):c.5223G>A (p.Thr1741=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1462969	NM_203447.4(DOCK8):c.568G>A (p.Gly190Arg)	DOCK8 (G122R +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1449603	NC_000009.11:g.(?_214977)_(452137_?)dup	DOCK8-AS1, DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1448429	NM_203447.4(DOCK8):c.5232A>T (p.Leu1744Phe)	DOCK8 (L1644F +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1447644	NM_203447.4(DOCK8):c.405-16A>G	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1442078	NM_203447.4(DOCK8):c.4217G>A (p.Arg1406Gln)	DOCK8 (R1306Q +2 more)	Single nucleotide variant (missense variant)	DOCK8-related disorder +1 more	GUncertain significance
Select item 1440121	NM_203447.4(DOCK8):c.3905G>C (p.Trp1302Ser)	DOCK8 (W1234S +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1439646	NM_203447.4(DOCK8):c.2633G>A (p.Arg878Gln)	DOCK8 (R878Q +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1434225	NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys)	DOCK8 (E1774K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1433843	NM_203447.4(DOCK8):c.590G>A (p.Cys197Tyr)	DOCK8 (C129Y +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1431494	NM_203447.4(DOCK8):c.1609C>G (p.Arg537Gly)	DOCK8 (R469G +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1427938	NM_203447.4(DOCK8):c.3867C>G (p.Asn1289Lys)	DOCK8 (N1189K +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1427497	NM_203447.4(DOCK8):c.1691A>G (p.Tyr564Cys)	DOCK8 (Y564C +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1422272	NM_203447.4(DOCK8):c.2303C>T (p.Ala768Val)	DOCK8 (A768V +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1421259	NM_203447.4(DOCK8):c.5117C>T (p.Ser1706Phe)	DOCK8 (S1606F +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1420731	NM_203447.4(DOCK8):c.5093A>G (p.Asn1698Ser)	DOCK8 (N1598S +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1420175	NM_203447.4(DOCK8):c.4267G>C (p.Ala1423Pro)	DOCK8 (A1355P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +1 more	GUncertain significance
Select item 1419878	NM_203447.4(DOCK8):c.1786A>G (p.Asn596Asp)	DOCK8 (N528D +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1418573	NM_203447.4(DOCK8):c.2444A>G (p.Asn815Ser)	DOCK8 (N815S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1417745	NM_203447.4(DOCK8):c.3044G>A (p.Arg1015His)	DOCK8 (R915H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1415351	NM_203447.4(DOCK8):c.5770G>A (p.Ala1924Thr)	DOCK8 (A1856T +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1414876	NM_203447.4(DOCK8):c.3251G>C (p.Ser1084Thr)	DOCK8 (S1084T +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1414489	NM_203447.4(DOCK8):c.3965C>T (p.Thr1322Met)	DOCK8 (T1322M +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance

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