LOC121740717[gene] - ClinVar

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Items: 83

	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 2000468	NM_006904.7(PRKDC):c.8783+17del	LOC121740717, PRKDC	Deletion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1985461	NM_006904.7(PRKDC):c.8783+15dup	LOC121740717, PRKDC	Duplication (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1488654	NM_006904.7(PRKDC):c.8770G>A (p.Val2924Met)	LOC121740717, PRKDC (V2924M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 654809	NM_006904.7(PRKDC):c.8767T>C (p.Trp2923Arg)	LOC121740717, PRKDC (W2923R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 3225930	NM_006904.7(PRKDC):c.8760C>T (p.Val2920=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564531	NM_006904.7(PRKDC):c.8745C>A (p.Arg2915=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2008450	NM_006904.7(PRKDC):c.8745C>T (p.Arg2915=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2201652	NM_006904.7(PRKDC):c.8744G>C (p.Arg2915Pro)	LOC121740717, PRKDC (R2915P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1016007	NM_006904.7(PRKDC):c.8744G>A (p.Arg2915His)	LOC121740717, PRKDC (R2915H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 839797	NM_006904.7(PRKDC):c.8743C>T (p.Arg2915Cys)	LOC121740717, PRKDC (R2915C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 3225929	NM_006904.7(PRKDC):c.8742C>G (p.Ala2914=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764515	NM_006904.7(PRKDC):c.8742C>T (p.Ala2914=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2334543	NM_006904.7(PRKDC):c.8741C>T (p.Ala2914Val)	LOC121740717, PRKDC (A2914V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764486	NM_006904.7(PRKDC):c.8739G>A (p.Lys2913=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1045434	NM_006904.7(PRKDC):c.8732G>A (p.Arg2911His)	LOC121740717, PRKDC (R2911H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1764479	NM_006904.7(PRKDC):c.8730C>T (p.Val2910=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2110599	NM_006904.7(PRKDC):c.8725C>A (p.Arg2909=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2564567	NM_006904.7(PRKDC):c.8720C>T (p.Ala2907Val)	LOC121740717, PRKDC (A2907V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626362	NM_006904.7(PRKDC):c.8716C>G (p.Pro2906Ala)	LOC121740717, PRKDC (P2906A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449814	NM_006904.7(PRKDC):c.8704C>T (p.Pro2902Ser)	LOC121740717, PRKDC (P2902S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1397303	NM_006904.7(PRKDC):c.8696G>A (p.Arg2899His)	LOC121740717, PRKDC (R2899H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 379649	NM_006904.7(PRKDC):c.8695C>T (p.Arg2899Cys)	LOC121740717, PRKDC (R2899C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GBenign
Select item 565638	NM_006904.7(PRKDC):c.8692C>T (p.Leu2898Phe)	LOC121740717, PRKDC (L2898F)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 542014	NM_006904.7(PRKDC):c.8685G>A (p.Glu2895=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GBenign
Select item 1128580	NM_006904.7(PRKDC):c.8682G>A (p.Glu2894=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1108800	NM_006904.7(PRKDC):c.8679A>G (p.Leu2893=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1764250	NM_006904.7(PRKDC):c.8673C>G (p.Arg2891=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2160594	NM_006904.7(PRKDC):c.8672G>A (p.Arg2891His)	LOC121740717, PRKDC (R2891H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2082745	NM_006904.7(PRKDC):c.8671C>G (p.Arg2891Gly)	LOC121740717, PRKDC (R2891G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1420153	NM_006904.7(PRKDC):c.8671C>T (p.Arg2891Cys)	LOC121740717, PRKDC (R2891C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1764248	NM_006904.7(PRKDC):c.8670C>T (p.Ile2890=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764247	NM_006904.7(PRKDC):c.8670C>G (p.Ile2890Met)	LOC121740717, PRKDC (I2890M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2920557	NM_006904.7(PRKDC):c.8664G>A (p.Val2888=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1002035	NM_006904.7(PRKDC):c.8662G>A (p.Val2888Met)	LOC121740717, PRKDC (V2888M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 656998	NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu)	LOC121740717, PRKDC (V2888L)	Single nucleotide variant (missense variant)	PRKDC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 652673	NM_006904.7(PRKDC):c.8662G>T (p.Val2888Leu)	LOC121740717, PRKDC (V2888L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2113439	NM_006904.7(PRKDC):c.8661C>A (p.Pro2887=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 475240	NM_006904.7(PRKDC):c.8661C>T (p.Pro2887=)	PRKDC, LOC121740717	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GBenign/Likely benign
Select item 1764227	NM_006904.7(PRKDC):c.8660C>T (p.Pro2887Leu)	LOC121740717, PRKDC (P2887L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1764226	NM_006904.7(PRKDC):c.8660C>G (p.Pro2887Arg)	LOC121740717, PRKDC (P2887R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2900896	NM_006904.7(PRKDC):c.8658G>A (p.Gln2886=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 791165	NM_006904.7(PRKDC):c.8652A>G (p.Leu2884=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3225928	NM_006904.7(PRKDC):c.8649C>A (p.Ser2883Arg)	LOC121740717, PRKDC (S2883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282045	NM_006904.7(PRKDC):c.8649C>G (p.Ser2883Arg)	LOC121740717, PRKDC (S2883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764148	NM_006904.7(PRKDC):c.8649C>T (p.Ser2883=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2693293	NM_006904.7(PRKDC):c.8646C>T (p.Ala2882=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2497363	NM_006904.7(PRKDC):c.8645C>T (p.Ala2882Val)	LOC121740717, PRKDC (A2882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1353242	NM_006904.7(PRKDC):c.8644G>A (p.Ala2882Thr)	LOC121740717, PRKDC (A2882T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1764141	NM_006904.7(PRKDC):c.8643G>A (p.Leu2881=)	PRKDC, LOC121740717	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764137	NM_006904.7(PRKDC):c.8640C>G (p.Cys2880Trp)	LOC121740717, PRKDC (C2880W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1966311	NM_006904.7(PRKDC):c.8639G>A (p.Cys2880Tyr)	LOC121740717, PRKDC (C2880Y)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2112995	NM_006904.7(PRKDC):c.8636G>A (p.Gly2879Asp)	LOC121740717, PRKDC (G2879D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1895529	NM_006904.7(PRKDC):c.8632G>A (p.Ala2878Thr)	LOC121740717, PRKDC (A2878T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2723894	NM_006904.7(PRKDC):c.8631C>T (p.Ser2877=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1764083	NM_006904.7(PRKDC):c.8627T>C (p.Val2876Ala)	LOC121740717, PRKDC (V2876A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2175387	NM_006904.7(PRKDC):c.8625T>C (p.Ala2875=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1764077	NM_006904.7(PRKDC):c.8622G>T (p.Ala2874=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764076	NM_006904.7(PRKDC):c.8622G>A (p.Ala2874=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1393672	NM_006904.7(PRKDC):c.8620G>C (p.Ala2874Pro)	LOC121740717, PRKDC (A2874P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1438884	NM_006904.7(PRKDC):c.8614G>C (p.Asp2872His)	LOC121740717, PRKDC (D2872H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1159869	NM_006904.7(PRKDC):c.8613C>T (p.Leu2871=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2449855	NM_006904.7(PRKDC):c.8610C>G (p.Ser2870Arg)	LOC121740717, PRKDC (S2870R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764020	NM_006904.7(PRKDC):c.8601C>T (p.Ala2867=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764018	NM_006904.7(PRKDC):c.8600C>T (p.Ala2867Val)	LOC121740717, PRKDC (A2867V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 965029	NM_006904.7(PRKDC):c.8599G>A (p.Ala2867Thr)	LOC121740717, PRKDC (A2867T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1763924	NM_006904.7(PRKDC):c.8582T>C (p.Ile2861Thr)	LOC121740717, PRKDC (I2861T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1017804	NM_006904.7(PRKDC):c.8579A>G (p.Asp2860Gly)	LOC121740717, PRKDC (D2860G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance

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Items: 83