PIDD1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 149

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 2209734	NM_145886.4(PIDD1):c.2722G>A (p.Ala908Thr)	PIDD1 (A908T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056640	NM_145886.4(PIDD1):c.2700G>A (p.Ser900=)	PIDD1	Single nucleotide variant (synonymous variant)	PIDD1-related condition	GLikely benign
Select item 2607643	NM_145886.4(PIDD1):c.2684C>G (p.Ala895Gly)	PIDD1 (A878G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768409	NM_145886.4(PIDD1):c.2682C>G (p.Pro894=)	PIDD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264888	NM_145886.4(PIDD1):c.2657G>A (p.Arg886His)	PIDD1 (R886H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590319	NM_145886.4(PIDD1):c.2654G>A (p.Arg885Gln)	PIDD1 (R885Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1712526	NM_145886.4(PIDD1):c.2626G>A (p.Gly876Ser)	PIDD1 (G859S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408048	NM_145886.4(PIDD1):c.2608C>T (p.Arg870Cys)	PIDD1 (R870C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 929836	NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter)	PIDD1 (Q846* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +1 more	GPathogenic
Select item 1686877	NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp)	PIDD1 (R845W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 2355892	NM_145886.4(PIDD1):c.2524C>T (p.Arg842Cys)	PIDD1 (R825C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045597	NM_145886.4(PIDD1):c.2475-10C>T	PIDD1	Single nucleotide variant (intron variant)	PIDD1-related condition	GLikely benign
Select item 2581676	NM_145886.4(PIDD1):c.2475-19G>A	PIDD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2581675	NM_145886.4(PIDD1):c.2474+18C>G	PIDD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2322951	NM_145886.4(PIDD1):c.2473C>T (p.Arg825Trp)	PIDD1 (R808W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472406	NM_145886.4(PIDD1):c.2467G>A (p.Glu823Lys)	PIDD1 (E806K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342526	NM_145886.4(PIDD1):c.2461C>T (p.Arg821Trp)	PIDD1 (R821W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2593839	NM_145886.4(PIDD1):c.2447A>G (p.Glu816Gly)	PIDD1 (E816G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686876	NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp)	PIDD1 (R798W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 2327045	NM_145886.4(PIDD1):c.2399G>C (p.Gly800Ala)	PIDD1 (G800A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350685	NM_145886.4(PIDD1):c.2363C>T (p.Thr788Met)	PIDD1 (T788M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691327	NM_145886.4(PIDD1):c.2289C>T (p.Ser763=)	PIDD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1686875	NM_145886.4(PIDD1):c.2275-1G>A	PIDD1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 2608750	NM_145886.4(PIDD1):c.2273C>T (p.Pro758Leu)	PIDD1 (P741L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258760	NM_145886.4(PIDD1):c.2228A>G (p.Lys743Arg)	PIDD1 (K726R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257605	NM_145886.4(PIDD1):c.2226G>T (p.Arg742Ser)	PIDD1 (R742S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2618925	NM_145886.4(PIDD1):c.2213C>G (p.Ala738Gly)	PIDD1 (A721G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634352	NM_145886.4(PIDD1):c.2200G>A (p.Glu734Lys)	PIDD1 (E717K +1 more)	Single nucleotide variant (missense variant)	PIDD1-related condition	GUncertain significance
Select item 2454789	NM_145886.4(PIDD1):c.2192G>A (p.Arg731Gln)	PIDD1 (R714Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2455427	NM_145886.4(PIDD1):c.2191C>T (p.Arg731Trp)	PIDD1 (R714W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058791	NM_145886.4(PIDD1):c.2187T>C (p.Pro729=)	PIDD1	Single nucleotide variant (synonymous variant)	PIDD1-related condition	GLikely benign
Select item 2351797	NM_145886.4(PIDD1):c.2174G>A (p.Arg725His)	PIDD1 (R725H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683905	NM_145886.4(PIDD1):c.2173C>T (p.Arg725Cys)	PIDD1 (R708C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2456801	NM_145886.4(PIDD1):c.2153G>A (p.Arg718Gln)	PIDD1 (R718Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1686878	NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs)	PIDD1 (V706fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 2482293	NM_145886.4(PIDD1):c.2101G>A (p.Val701Met)	PIDD1 (V701M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041188	NM_145886.4(PIDD1):c.2061G>A (p.Glu687=)	PIDD1	Single nucleotide variant (synonymous variant)	PIDD1-related condition	GBenign
Select item 2664234	NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)	PIDD1 (R682C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 3032444	NM_145886.4(PIDD1):c.2042-3_2042-2insGCCCTCCTTGCTCAGCCCACCCCTGTCCCCTGGATTGCCCTGACTGCGTGGATGCTGATAGGCCCTCCCTGTCCTGGAGGGGGAGCCTTACCGTCCTCCCCAT	PIDD1	Insertion (intron variant)	PIDD1-related condition	GLikely benign
Select item 1333713	NM_145886.4(PIDD1):c.2042-2A>G	PIDD1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly +3 more	GConflicting classifications of pathogenicity
Select item 720379	NM_145886.4(PIDD1):c.2042-8T>C	PIDD1	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly +2 more	GLikely benign
Select item 2521717	NM_145886.4(PIDD1):c.2032G>A (p.Val678Met)	PIDD1 (V678M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768410	NM_145886.4(PIDD1):c.2028C>T (p.Ile676=)	PIDD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3048530	NM_145886.4(PIDD1):c.2022C>T (p.Arg674=)	PIDD1	Single nucleotide variant (synonymous variant)	PIDD1-related condition	GLikely benign
Select item 3065217	NM_145886.4(PIDD1):c.2017G>C (p.Glu673Gln)	PIDD1 (E673Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 3058760	NM_145886.4(PIDD1):c.2010G>A (p.Ala670=)	PIDD1	Single nucleotide variant (synonymous variant)	PIDD1-related condition	GLikely benign
Select item 2490493	NM_145886.4(PIDD1):c.1990G>A (p.Glu664Lys)	PIDD1 (E664K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385663	NM_145886.4(PIDD1):c.1955G>A (p.Arg652Gln)	PIDD1 (R652Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038295	NM_145886.4(PIDD1):c.1954C>T (p.Arg652Trp)	PIDD1 (R652W)	Single nucleotide variant (missense variant)	PIDD1-related condition	GBenign
Select item 2430140	NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)	PIDD1 (R637*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 2456362	NM_145886.4(PIDD1):c.1814G>A (p.Arg605Gln)	PIDD1 (R605Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1686879	NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs)	PIDD1 (G602fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GPathogenic
Select item 2373565	NM_145886.4(PIDD1):c.1774C>T (p.Leu592Phe)	PIDD1 (L592F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462208	NM_145886.4(PIDD1):c.1666T>C (p.Tyr556His)	PIDD1 (Y556H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358352	NM_145886.4(PIDD1):c.1651C>T (p.Arg551Cys)	PIDD1 (R551C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029933	NM_145886.4(PIDD1):c.1646G>T (p.Arg549Leu)	PIDD1 (R549L)	Single nucleotide variant (missense variant)	PIDD1-related condition	GLikely benign
Select item 2363398	NM_145886.4(PIDD1):c.1645C>T (p.Arg549Cys)	PIDD1 (R549C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2167925	NM_145886.4(PIDD1):c.1635_1636del (p.Leu547fs)	PIDD1 (L547fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 789037	NM_145886.4(PIDD1):c.1590A>G (p.Gln530=)	PIDD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3038629	NM_145886.4(PIDD1):c.1580G>T (p.Ser527Ile)	PIDD1 (S527I)	Single nucleotide variant (missense variant)	PIDD1-related condition	GBenign
Select item 2371112	NM_145886.4(PIDD1):c.1570G>A (p.Gly524Ser)	PIDD1 (G524S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554347	NM_145886.4(PIDD1):c.1490G>T (p.Arg497Leu)	PIDD1 (R497L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075393	NM_145886.4(PIDD1):c.1466G>A (p.Arg489His)	PIDD1 (R489H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581674	NM_145886.4(PIDD1):c.1444C>G (p.Pro482Ala)	PIDD1 (P482A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568848	NM_145886.4(PIDD1):c.1412C>T (p.Ser471Leu)	PIDD1 (S471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621952	NM_145886.4(PIDD1):c.1369A>G (p.Asn457Asp)	PIDD1 (N457D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2212627	NM_145886.4(PIDD1):c.1343T>G (p.Phe448Cys)	PIDD1 (F448C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067912	NM_145886.4(PIDD1):c.1303-10_1303-9insT	PIDD1	Insertion (intron variant)	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	GUncertain significance
Select item 2682439	NM_145886.4(PIDD1):c.1303-13_1303-12insTC	PIDD1	Insertion (intron variant)	not specified	GLikely benign
Select item 1338956	NM_145886.4(PIDD1):c.1303-20T>A	PIDD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2306616	NM_145886.4(PIDD1):c.1277C>T (p.Thr426Ile)	PIDD1 (T426I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285491	NM_145886.4(PIDD1):c.1220G>C (p.Arg407Pro)	PIDD1 (R407P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247550	NM_145886.4(PIDD1):c.1217G>A (p.Arg406Gln)	PIDD1 (R406Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696648	NM_145886.4(PIDD1):c.1173G>A (p.Gln391=)	PIDD1	Single nucleotide variant (synonymous variant)	PIDD1-associated neurodevelopmental disorder	GUncertain significance
Select item 768411	NM_145886.4(PIDD1):c.1101C>T (p.Leu367=)	PIDD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398427	NM_145886.4(PIDD1):c.1076G>A (p.Arg359Gln)	PIDD1 (R359Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280564	NM_145886.4(PIDD1):c.1040C>T (p.Ala347Val)	PIDD1 (A347V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209912	NM_145886.4(PIDD1):c.1025G>A (p.Arg342His)	PIDD1 (R342H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045156	NM_145886.4(PIDD1):c.903C>T (p.Asp301=)	PIDD1	Single nucleotide variant (synonymous variant)	PIDD1-related condition	GLikely benign
Select item 2641095	NM_145886.4(PIDD1):c.855C>T (p.Ala285=)	PIDD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384397	NM_145886.4(PIDD1):c.853G>A (p.Ala285Thr)	PIDD1 (A285T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357712	NM_145886.4(PIDD1):c.853G>T (p.Ala285Ser)	PIDD1 (A285S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330858	NM_145886.4(PIDD1):c.751C>T (p.Leu251Phe)	PIDD1 (L251F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044247	NM_145886.4(PIDD1):c.733C>A (p.Leu245Ile)	PIDD1 (L245I)	Single nucleotide variant (missense variant)	PIDD1-related condition	GLikely benign
Select item 2327046	NM_145886.4(PIDD1):c.722C>T (p.Ser241Phe)	PIDD1 (S241F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042099	NM_145886.4(PIDD1):c.710-4G>A	PIDD1	Single nucleotide variant (intron variant)	PIDD1-related condition	GLikely benign
Select item 1274936	NM_145886.4(PIDD1):c.710-11A>C	PIDD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2496126	NM_145886.4(PIDD1):c.677C>T (p.Ser226Phe)	PIDD1 (S226F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2039121	NM_145886.4(PIDD1):c.589C>G (p.Gln197Glu)	PIDD1 (Q197E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599828	NM_145886.4(PIDD1):c.520A>G (p.Thr174Ala)	PIDD1 (T174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662925	NM_145886.4(PIDD1):c.514G>A (p.Ala172Thr)	PIDD1 (A172T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2