NCAPD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 1800480	NM_014865.4(NCAPD2):c.-23-1G>A	NCAPD2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2225068	NM_014865.4(NCAPD2):c.5C>G (p.Ala2Gly)	NCAPD2 (A2G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2225476	NM_014865.4(NCAPD2):c.8C>A (p.Pro3His)	NCAPD2 (P3H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1321843	NM_014865.4(NCAPD2):c.127+27C>T	NCAPD2	Single nucleotide variant (intron variant)	Microcephaly 21, primary, autosomal recessive +1 more	GBenign
Select item 3180623	NM_014865.4(NCAPD2):c.131T>C (p.Phe44Ser)	NCAPD2 (F44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3373181	NM_014865.4(NCAPD2):c.189C>G (p.Ile63Met)	NCAPD2 (I63M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706961	NM_014865.4(NCAPD2):c.211C>T (p.Arg71Ter)	NCAPD2 (R71*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3034389	NM_014865.4(NCAPD2):c.243T>C (p.Thr81=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GBenign
Select item 1321844	NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu)	NCAPD2 (Q83E)	Single nucleotide variant (missense variant)	Microcephaly 21, primary, autosomal recessive +1 more	GBenign
Select item 711919	NM_014865.4(NCAPD2):c.366T>C (p.Tyr122=)	NCAPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180831	NM_014865.4(NCAPD2):c.377G>A (p.Arg126His)	NCAPD2 (R126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611519	NM_014865.4(NCAPD2):c.388T>A (p.Ser130Thr)	NCAPD2 (S130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546695	NM_014865.4(NCAPD2):c.445-1G>T	NCAPD2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1879223	NM_014865.4(NCAPD2):c.564A>C (p.Ser188=)	NCAPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2620026	NM_014865.4(NCAPD2):c.620A>G (p.Glu207Gly)	NCAPD2 (E207G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298531	NM_014865.4(NCAPD2):c.649C>T (p.Arg217Cys)	NCAPD2 (R217C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3180890	NM_014865.4(NCAPD2):c.679C>T (p.Leu227Phe)	NCAPD2 (L227F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308666	NM_014865.4(NCAPD2):c.790C>G (p.Leu264Val)	NCAPD2 (L264V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298685	NM_014865.4(NCAPD2):c.813G>A (p.Met271Ile)	NCAPD2 (M271I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298692	NM_014865.4(NCAPD2):c.821T>C (p.Ile274Thr)	NCAPD2 (I274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701182	NM_014865.4(NCAPD2):c.839+7C>T	NCAPD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3180895	NM_014865.4(NCAPD2):c.841G>A (p.Glu281Lys)	NCAPD2 (E281K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615692	NM_014865.4(NCAPD2):c.875G>A (p.Arg292Gln)	NCAPD2 (R292Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334613	NM_014865.4(NCAPD2):c.898T>A (p.Phe300Ile)	NCAPD2 (F300I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049053	NM_014865.4(NCAPD2):c.988-12TC[3]	NCAPD2	Microsatellite (intron variant)	NCAPD2-related disorder	GLikely benign
Select item 746612	NM_014865.4(NCAPD2):c.1009G>A (p.Val337Met)	NCAPD2 (V337M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3043179	NM_014865.4(NCAPD2):c.1026G>A (p.Ala342=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GLikely benign
Select item 2246722	NM_014865.4(NCAPD2):c.1032G>A (p.Met344Ile)	NCAPD2 (M344I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546312	NM_014865.4(NCAPD2):c.1073C>G (p.Ala358Gly)	NCAPD2 (A358G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298686	NM_014865.4(NCAPD2):c.1076G>A (p.Arg359Gln)	NCAPD2 (R359Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551070	NM_014865.4(NCAPD2):c.1130A>C (p.Asn377Thr)	NCAPD2 (N377T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403785	NM_014865.4(NCAPD2):c.1132T>G (p.Ser378Ala)	NCAPD2 (S378A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3373184	NM_014865.4(NCAPD2):c.1142G>A (p.Arg381Gln)	NCAPD2 (R381Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663273	NM_014865.4(NCAPD2):c.1150_1151del (p.Val384fs)	NCAPD2 (V384fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2539979	NM_014865.4(NCAPD2):c.1166C>G (p.Thr389Ser)	NCAPD2 (T389S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030382	NM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile)	NCAPD2 (T389I)	Single nucleotide variant (missense variant)	Microcephaly 21, primary, autosomal recessive	GUncertain significance
Select item 770408	NM_014865.4(NCAPD2):c.1185+8A>G	NCAPD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2205091	NM_014865.4(NCAPD2):c.1216G>A (p.Val406Met)	NCAPD2 (V406M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231653	NM_014865.4(NCAPD2):c.1220C>G (p.Ala407Gly)	NCAPD2 (A407G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608122	NM_014865.4(NCAPD2):c.1234C>T (p.Arg412Cys)	NCAPD2 (R412C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773258	NM_014865.4(NCAPD2):c.1278G>A (p.Gln426=)	NCAPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180622	NM_014865.4(NCAPD2):c.1303A>G (p.Asn435Asp)	NCAPD2 (N435D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295577	NM_014865.4(NCAPD2):c.1342G>A (p.Gly448Arg)	NCAPD2 (G448R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057706	NM_014865.4(NCAPD2):c.1344A>G (p.Gly448=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GLikely benign
Select item 2402069	NM_014865.4(NCAPD2):c.1384del (p.Ala462fs)	NCAPD2 (A462fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2445958	NM_014865.4(NCAPD2):c.1406C>T (p.Ala469Val)	NCAPD2 (A469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252572	NM_014865.4(NCAPD2):c.1451C>T (p.Pro484Leu)	NCAPD2 (P484L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2482516	NM_014865.4(NCAPD2):c.1459A>G (p.Lys487Glu)	NCAPD2 (K487E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354999	NM_014865.4(NCAPD2):c.1472A>G (p.Gln491Arg)	NCAPD2 (Q491R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509534	NM_014865.4(NCAPD2):c.1490C>G (p.Pro497Arg)	NCAPD2 (P497R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180637	NM_014865.4(NCAPD2):c.1503G>T (p.Glu501Asp)	NCAPD2 (E501D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030383	NM_014865.4(NCAPD2):c.1526A>G (p.Asn509Ser)	NCAPD2 (N509S)	Single nucleotide variant (missense variant)	Microcephaly 21, primary, autosomal recessive	GUncertain significance
Select item 2613405	NM_014865.4(NCAPD2):c.1556G>A (p.Arg519His)	NCAPD2 (R519H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044964	NM_014865.4(NCAPD2):c.1590-10G>A	NCAPD2	Single nucleotide variant (intron variant)	NCAPD2-related disorder	GLikely benign
Select item 2545093	NM_014865.4(NCAPD2):c.1597A>G (p.Ile533Val)	NCAPD2 (I533V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803342	NM_014865.4(NCAPD2):c.1612G>C (p.Glu538Gln)	NCAPD2 (E538Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3044588	NM_014865.4(NCAPD2):c.1653T>C (p.His551=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GLikely benign
Select item 2615197	NM_014865.4(NCAPD2):c.1661C>T (p.Pro554Leu)	NCAPD2 (P554L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039262	NM_014865.4(NCAPD2):c.1695C>A (p.Ile565=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GBenign
Select item 784230	NM_014865.4(NCAPD2):c.1739A>G (p.Lys580Arg)	NCAPD2 (K580R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3298691	NM_014865.4(NCAPD2):c.1747C>T (p.Arg583Trp)	NCAPD2 (R583W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270032	NM_014865.4(NCAPD2):c.1767G>A (p.Met589Ile)	NCAPD2 (M589I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223436	NM_014865.4(NCAPD2):c.1769T>G (p.Val590Gly)	NCAPD2 (V590G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2560040	NM_014865.4(NCAPD2):c.1787G>A (p.Cys596Tyr)	NCAPD2 (C596Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180665	NM_014865.4(NCAPD2):c.1793A>T (p.Asn598Ile)	NCAPD2 (N598I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3180668	NM_014865.4(NCAPD2):c.1802A>G (p.Asn601Ser)	NCAPD2 (N601S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3180671	NM_014865.4(NCAPD2):c.1808C>T (p.Ser603Leu)	NCAPD2 (S603L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2304215	NM_014865.4(NCAPD2):c.1823C>A (p.Ser608Tyr)	NCAPD2 (S608Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180680	NM_014865.4(NCAPD2):c.1826G>C (p.Arg609Thr)	NCAPD2 (R609T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3298694	NM_014865.4(NCAPD2):c.1854G>C (p.Glu618Asp)	NCAPD2 (E618D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522333	NM_014865.4(NCAPD2):c.1895G>A (p.Arg632Gln)	NCAPD2 (R632Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034835	NM_014865.4(NCAPD2):c.1901T>C (p.Ile634Thr)	NCAPD2 (I634T)	Single nucleotide variant (missense variant)	NCAPD2-related disorder	GLikely benign
Select item 2642616	NM_014865.4(NCAPD2):c.1903A>C (p.Thr635Pro)	NCAPD2 (T635P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2605730	NM_014865.4(NCAPD2):c.1912A>G (p.Ile638Val)	NCAPD2 (I638V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1238523	NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=)	NCAPD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 546696	NM_014865.4(NCAPD2):c.1954+1G>A	NCAPD2	Single nucleotide variant (splice donor variant)	Microcephaly 21, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 3298695	NM_014865.4(NCAPD2):c.1985T>A (p.Met662Lys)	NCAPD2 (M662K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298696	NM_014865.4(NCAPD2):c.1986G>T (p.Met662Ile)	NCAPD2 (M662I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336608	NM_014865.4(NCAPD2):c.2006C>T (p.Pro669Leu)	NCAPD2 (P669L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342710	NM_014865.4(NCAPD2):c.2008C>T (p.Gln670Ter)	NCAPD2 (Q670*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2530876	NM_014865.4(NCAPD2):c.2059C>T (p.Pro687Ser)	NCAPD2 (P687S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180696	NM_014865.4(NCAPD2):c.2077G>A (p.Val693Met)	NCAPD2 (V693M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045904	NM_014865.4(NCAPD2):c.2162C>G (p.Ser721Cys)	NCAPD2 (S721C)	Single nucleotide variant (missense variant)	NCAPD2-related disorder	GLikely benign
Select item 2216023	NM_014865.4(NCAPD2):c.2223G>T (p.Glu741Asp)	NCAPD2 (E741D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488859	NM_014865.4(NCAPD2):c.2276G>A (p.Arg759Gln)	NCAPD2 (R759Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341600	NM_014865.4(NCAPD2):c.2283C>T (p.Thr761=)	NCAPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180704	NM_014865.4(NCAPD2):c.2299T>A (p.Cys767Ser)	NCAPD2 (C767S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 739806	NM_014865.4(NCAPD2):c.2349-8T>C	NCAPD2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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