5591[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +417 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	ANK1, AP3M2 +86 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 151956	GRCh38/hg38 8q11.21(chr8:47701537-47918282)x3	CEBPD, LOC121740717 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2051824	NM_006904.7(PRKDC):c.12382A>C (p.Met4128Leu)	PRKDC (M4097L +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 759803	NM_006904.7(PRKDC):c.12375G>A (p.Glu4125=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2453356	NM_006904.7(PRKDC):c.12371G>T (p.Trp4124Leu)	PRKDC (W4093L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1347693	NM_006904.7(PRKDC):c.12365A>C (p.Glu4122Ala)	PRKDC (E4122A +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1756792	NM_006904.7(PRKDC):c.12363G>C (p.Trp4121Cys)	PRKDC (W4090C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756780	NM_006904.7(PRKDC):c.12362G>C (p.Trp4121Ser)	PRKDC (W4090S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756584	NM_006904.7(PRKDC):c.12357A>T (p.Arg4119Ser)	PRKDC (R4119S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453365	NM_006904.7(PRKDC):c.12352G>C (p.Gly4118Arg)	PRKDC (G4118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453335	NM_006904.7(PRKDC):c.12350T>A (p.Leu4117His)	PRKDC (L4117H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 852672	NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp)	PRKDC (N4115D +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 1756305	NM_006904.7(PRKDC):c.12340C>T (p.Pro4114Ser)	PRKDC (P4083S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756002	NM_006904.7(PRKDC):c.12333A>G (p.Ala4111=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2814292	NM_006904.7(PRKDC):c.12321G>C (p.Leu4107=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2583066	NM_006904.7(PRKDC):c.12321G>A (p.Leu4107=)	PRKDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2449862	NM_006904.7(PRKDC):c.12313A>C (p.Lys4105Gln)	PRKDC (K4105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1755327	NM_006904.7(PRKDC):c.12308A>G (p.Gln4103Arg)	PRKDC (Q4103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1041078	NM_006904.7(PRKDC):c.12301G>C (p.Glu4101Gln)	PRKDC (E4101Q +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 541989	NM_006904.7(PRKDC):c.12292C>A (p.Leu4098Ile)	PRKDC (L4098I +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1055442	NM_006904.7(PRKDC):c.12283G>C (p.Glu4095Gln)	PRKDC (E4064Q +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1477734	NM_006904.7(PRKDC):c.12280C>T (p.Pro4094Ser)	PRKDC (P4063S +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1492425	NM_006904.7(PRKDC):c.12279A>C (p.Glu4093Asp)	PRKDC (E4062D +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1754230	NM_006904.7(PRKDC):c.12262A>G (p.Asn4088Asp)	PRKDC (N4088D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1563528	NM_006904.7(PRKDC):c.12252C>T (p.Ser4084=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1753733	NM_006904.7(PRKDC):c.12240G>T (p.Val4080=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1714026	NM_006904.7(PRKDC):c.12230A>G (p.Tyr4077Cys)	PRKDC (Y4046C +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2148473	NM_006904.7(PRKDC):c.12221T>G (p.Phe4074Cys)	PRKDC (F4043C +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2882381	NM_006904.7(PRKDC):c.12219C>T (p.Ala4073=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1753078	NM_006904.7(PRKDC):c.12218C>T (p.Ala4073Val)	PRKDC (A4073V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 542012	NM_006904.7(PRKDC):c.12216T>A (p.Pro4072=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1753064	NM_006904.7(PRKDC):c.12214C>T (p.Pro4072Ser)	PRKDC (P4072S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1753061	NM_006904.7(PRKDC):c.12213C>T (p.Ala4071=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1753054	NM_006904.7(PRKDC):c.12213C>G (p.Ala4071=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225734	NM_006904.7(PRKDC):c.12199G>C (p.Gly4067Arg)	PRKDC (G4036R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1752344	NM_006904.7(PRKDC):c.12195C>G (p.Leu4065=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1495038	NM_006904.7(PRKDC):c.12193C>G (p.Leu4065Val)	PRKDC (L4065V +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1508698	NM_006904.7(PRKDC):c.12184G>A (p.Asp4062Asn)	PRKDC (D4031N +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2155579	NM_006904.7(PRKDC):c.12183-5dup	PRKDC	Duplication (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GBenign
Select item 1647946	NM_006904.7(PRKDC):c.12183-5T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1148224	NM_006904.7(PRKDC):c.12183-5del	PRKDC	Deletion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2809990	NM_006904.7(PRKDC):c.12183-13G>T	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1187693	NM_006904.7(PRKDC):c.12183-93G>C	PRKDC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235712	NM_006904.7(PRKDC):c.12182+39G>A	PRKDC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1658149	NM_006904.7(PRKDC):c.12182+19G>A	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1503508	NM_006904.7(PRKDC):c.12175A>G (p.Ile4059Val)	PRKDC (I4059V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1751587	NM_006904.7(PRKDC):c.12163A>G (p.Asn4055Asp)	PRKDC (N4024D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1599080	NM_006904.7(PRKDC):c.12156A>C (p.Ala4052=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GBenign
Select item 1124698	NM_006904.7(PRKDC):c.12156A>G (p.Ala4052=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2983347	NM_006904.7(PRKDC):c.12150G>A (p.Lys4050=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1000710	NM_006904.7(PRKDC):c.12142A>G (p.Lys4048Glu)	PRKDC (K4017E +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1415581	NM_006904.7(PRKDC):c.12139G>A (p.Ala4047Thr)	PRKDC (A4047T +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 542026	NM_006904.7(PRKDC):c.12138C>T (p.Tyr4046=)	PRKDC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 940581	NM_006904.7(PRKDC):c.12133T>C (p.Cys4045Arg)	PRKDC (C4014R +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1062868	NM_006904.7(PRKDC):c.12122G>A (p.Arg4041Gln)	PRKDC (R4010Q +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2626359	NM_006904.7(PRKDC):c.12119C>T (p.Pro4040Leu)	PRKDC (P4009L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1750411	NM_006904.7(PRKDC):c.12118C>A (p.Pro4040Thr)	PRKDC (P4040T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2887828	NM_006904.7(PRKDC):c.12117C>T (p.Tyr4039=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 956277	NM_006904.7(PRKDC):c.12114G>T (p.Trp4038Cys)	PRKDC (W4038C +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2055021	NM_006904.7(PRKDC):c.12113G>T (p.Trp4038Leu)	PRKDC (W4007L +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2003618	NM_006904.7(PRKDC):c.12111T>C (p.Asn4037=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 3225733	NM_006904.7(PRKDC):c.12108A>G (p.Lys4036=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 961866	NM_006904.7(PRKDC):c.12106A>C (p.Lys4036Gln)	PRKDC (K4005Q +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1457115	NM_006904.7(PRKDC):c.12099T>G (p.Val4033=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1749423	NM_006904.7(PRKDC):c.12098T>G (p.Val4033Gly)	PRKDC (V4033G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1572580	NM_006904.7(PRKDC):c.12096T>C (p.Asn4032=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1519659	NM_006904.7(PRKDC):c.12095A>T (p.Asn4032Ile)	PRKDC (N4001I +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1749414	NM_006904.7(PRKDC):c.12094A>G (p.Asn4032Asp)	PRKDC (N4001D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1749395	NM_006904.7(PRKDC):c.12090A>G (p.Glu4030=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1749186	NM_006904.7(PRKDC):c.12089A>G (p.Glu4030Gly)	PRKDC (E3999G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1967855	NM_006904.7(PRKDC):c.12078A>G (p.Ser4026=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1715043	NM_006904.7(PRKDC):c.12074G>A (p.Gly4025Glu)	PRKDC (G3994E +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1497737	NM_006904.7(PRKDC):c.12073G>A (p.Gly4025Arg)	PRKDC (G3994R +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 1748985	NM_006904.7(PRKDC):c.12070G>A (p.Gly4024Arg)	PRKDC (G3993R +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 2560681	NM_006904.7(PRKDC):c.12068A>G (p.Lys4023Arg)	PRKDC (K3992R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2115037	NM_006904.7(PRKDC):c.12068A>C (p.Lys4023Thr)	PRKDC (K3992T +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2561910	NM_006904.7(PRKDC):c.12066A>G (p.Lys4022=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1947112	NM_006904.7(PRKDC):c.12065A>G (p.Lys4022Arg)	PRKDC (K4022R +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2564563	NM_006904.7(PRKDC):c.12064A>C (p.Lys4022Gln)	PRKDC (K3991Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1748753	NM_006904.7(PRKDC):c.12064A>G (p.Lys4022Glu)	PRKDC (K4022E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1954639	NM_006904.7(PRKDC):c.12062T>G (p.Leu4021Arg)	PRKDC (L3990R +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 3225731	NM_006904.7(PRKDC):c.12057A>G (p.Lys4019=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1417430	NM_006904.7(PRKDC):c.12053A>C (p.Gln4018Pro)	PRKDC (Q3987P +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 567106	NM_006904.7(PRKDC):c.12049G>C (p.Glu4017Gln)	PRKDC (E4017Q +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1080414	NM_006904.7(PRKDC):c.12043-16T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1646910	NM_006904.7(PRKDC):c.12043-17A>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign

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