ClinVar for Gene (Select 83858) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366439	NC_000001.10:g.(?_1407144)_(1433229_?)del	ATAD3B	Deletion	not specified	GUncertain significance
Select item 3341651	NM_031921.6(ATAD3B):c.906+6G>A	ATAD3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3339389	NM_031921.6(ATAD3B):c.907-2A>G	ATAD3B	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 3319980	NM_031921.6(ATAD3B):c.1526T>C (p.Phe509Ser)	ATAD3B (F463S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319970	NM_031921.6(ATAD3B):c.345G>C (p.Arg115Ser)	ATAD3B (R115S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319959	NM_031921.6(ATAD3B):c.419G>A (p.Arg140His)	ATAD3B (R140H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319950	NM_031921.6(ATAD3B):c.1654G>A (p.Ala552Thr)	ATAD3B (A552T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319939	NM_031921.6(ATAD3B):c.1135G>A (p.Gly379Arg)	ATAD3B (G333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319929	NM_031921.6(ATAD3B):c.1205G>C (p.Ser402Thr)	ATAD3B (S356T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319921	NM_031921.6(ATAD3B):c.958C>T (p.Leu320Phe)	ATAD3B (L320F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319912	NM_031921.6(ATAD3B):c.616A>G (p.Ile206Val)	ATAD3B (I160V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319902	NM_031921.6(ATAD3B):c.556A>T (p.Met186Leu)	ATAD3B (M140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319892	NM_031921.6(ATAD3B):c.1603G>C (p.Val535Leu)	ATAD3B (V489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319881	NM_031921.6(ATAD3B):c.1259G>C (p.Arg420Pro)	ATAD3B (R420P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247908	NC_000001.10:g.(?_1284256)_(1475190_?)dup	DVL1, MRPL20 +10 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3235907	GRCh38/hg38 1p36.33(chr1:1482000-1519400)	ATAD3A, ATAD3B +4 more	Copy number loss	Harel-Yoon syndrome +1 more	GLikely pathogenic
Select item 3130715	NM_031921.6(ATAD3B):c.62C>T (p.Pro21Leu)	ATAD3B (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130714	NM_031921.4(ATAD3B):c.623G>A	ATAD3B (R162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130712	NM_031921.6(ATAD3B):c.593A>G (p.Lys198Arg)	ATAD3B (K152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130711	NM_031921.6(ATAD3B):c.53C>A (p.Pro18Gln)	ATAD3B (P18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130710	NM_031921.6(ATAD3B):c.482A>G (p.Glu161Gly)	ATAD3B (E161G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130709	NM_031921.6(ATAD3B):c.47C>T (p.Ala16Val)	ATAD3B (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130708	NM_031921.6(ATAD3B):c.455A>G (p.Asn152Ser)	ATAD3B (N106S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130706	NM_031921.6(ATAD3B):c.262G>A (p.Glu88Lys)	ATAD3B (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130705	NM_031921.6(ATAD3B):c.200A>G (p.His67Arg)	ATAD3B (H67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130704	NM_031921.6(ATAD3B):c.1907G>C (p.Gly636Ala)	ATAD3B (G636A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130703	NM_031921.6(ATAD3B):c.1767A>C (p.Gln589His)	ATAD3B (Q589H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130701	NM_031921.6(ATAD3B):c.1555G>A (p.Ala519Thr)	ATAD3B (A473T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130700	NM_031921.6(ATAD3B):c.1415A>G (p.His472Arg)	ATAD3B (H426R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130699	NM_031921.6(ATAD3B):c.1352T>C (p.Leu451Pro)	ATAD3B (L405P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130698	NM_031921.6(ATAD3B):c.1213G>A (p.Gly405Ser)	ATAD3B (G359S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130696	NM_031921.6(ATAD3B):c.1013C>G (p.Thr338Ser)	ATAD3B (T292S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3024570	GRCh37/hg19 1p36.33(chr1:1386064-1431197)x0	ATAD3B, ATAD3C	Copy number loss	not provided	GLikely benign
Select item 2688624	NM_031921.6(ATAD3B):c.1090-3C>T	ATAD3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638019	NC_000001.11:g.1509223G>A	ATAD3A, ATAD3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2638018	NM_031921.6(ATAD3B):c.1816T>C (p.Cys606Arg)	ATAD3B (C560R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638017	NM_031921.6(ATAD3B):c.1638C>T (p.Asp546=)	ATAD3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638016	NM_031921.6(ATAD3B):c.777C>T (p.Val259=)	ATAD3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638015	NM_031921.6(ATAD3B):c.571A>G (p.Thr191Ala)	ATAD3B (T145A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638014	NM_031921.6(ATAD3B):c.430C>T (p.Gln144Ter)	ATAD3B (Q144* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2610054	NM_031921.6(ATAD3B):c.1669T>G (p.Cys557Gly)	ATAD3B (C557G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605154	NM_031921.6(ATAD3B):c.644C>T (p.Ala215Val)	ATAD3B (A169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602237	NM_031921.6(ATAD3B):c.589G>C (p.Ala197Pro)	ATAD3B (A197P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593339	NM_031921.6(ATAD3B):c.1596G>T (p.Gln532His)	ATAD3B (Q532H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589473	NM_031921.6(ATAD3B):c.1799C>T (p.Thr600Met)	ATAD3B (T600M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2569803	NM_031921.6(ATAD3B):c.1273A>T (p.Ile425Leu)	ATAD3B (I425L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549607	NM_031921.6(ATAD3B):c.198G>C (p.Glu66Asp)	ATAD3B (E66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549146	NM_031921.6(ATAD3B):c.1069G>A (p.Gly357Arg)	ATAD3B (G311R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544459	NM_031921.6(ATAD3B):c.361G>A (p.Glu121Lys)	ATAD3B (E121K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535807	NM_031921.6(ATAD3B):c.1039C>T (p.His347Tyr)	ATAD3B (H347Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526307	NM_031921.6(ATAD3B):c.912C>G (p.Ser304Arg)	ATAD3B (S304R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518255	NM_031921.6(ATAD3B):c.1211G>A (p.Arg404His)	ATAD3B (R358H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515677	NM_031921.6(ATAD3B):c.1397G>A (p.Arg466His)	ATAD3B (R420H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513818	NM_031921.6(ATAD3B):c.37G>A (p.Gly13Ser)	ATAD3B (G13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509327	NM_031921.6(ATAD3B):c.1447C>T (p.Arg483Cys)	ATAD3B (R483C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508544	NM_031921.6(ATAD3B):c.43G>A (p.Gly15Ser)	ATAD3B (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2491663	NM_031921.6(ATAD3B):c.1657A>G (p.Met553Val)	ATAD3B (M507V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490045	NM_031921.6(ATAD3B):c.1697G>C (p.Arg566Pro)	ATAD3B (R566P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486820	NM_031921.6(ATAD3B):c.634C>T (p.Arg212Cys)	ATAD3B (R212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481845	NM_031921.6(ATAD3B):c.823A>G (p.Ile275Val)	ATAD3B (I275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473179	NM_031921.6(ATAD3B):c.1039C>A (p.His347Asn)	ATAD3B (H301N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466242	NM_031921.6(ATAD3B):c.1118A>G (p.Tyr373Cys)	ATAD3B (Y327C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463511	NM_031921.6(ATAD3B):c.1076C>T (p.Thr359Met)	ATAD3B (T359M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463501	NM_031921.6(ATAD3B):c.1330A>C (p.Ser444Arg)	ATAD3B (S398R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459191	NM_031921.6(ATAD3B):c.1633A>G (p.Lys545Glu)	ATAD3B (K545E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410436	NM_031921.6(ATAD3B):c.664G>T (p.Val222Phe)	ATAD3B (V222F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406567	NM_031921.6(ATAD3B):c.1507C>T (p.Arg503Cys)	ATAD3B (R503C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399592	NM_031921.6(ATAD3B):c.1274T>G (p.Ile425Arg)	ATAD3B (I379R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390349	NM_031921.6(ATAD3B):c.175G>C (p.Ala59Pro)	ATAD3B (A59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390204	NM_031921.6(ATAD3B):c.179A>T (p.Lys60Met)	ATAD3B (K60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378178	NM_031921.6(ATAD3B):c.580C>T (p.Arg194Trp)	ATAD3B (R148W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367832	NM_031921.6(ATAD3B):c.1096G>A (p.Ala366Thr)	ATAD3B (A320T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363951	NM_031921.6(ATAD3B):c.940G>A (p.Val314Met)	ATAD3B (V268M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347510	NM_031921.6(ATAD3B):c.197A>G (p.Glu66Gly)	ATAD3B (E66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347405	NM_031921.6(ATAD3B):c.664G>A (p.Val222Ile)	ATAD3B (V222I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341332	NM_031921.6(ATAD3B):c.160G>T (p.Gly54Cys)	ATAD3B (G54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336150	NM_031921.6(ATAD3B):c.1727G>A (p.Gly576Glu)	ATAD3B (G530E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333666	NM_031921.6(ATAD3B):c.595G>C (p.Ala199Pro)	ATAD3B (A199P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326011	NM_031921.6(ATAD3B):c.1265C>T (p.Thr422Ile)	ATAD3B (T376I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320018	NM_031921.6(ATAD3B):c.1024C>T (p.Arg342Trp)	ATAD3B (R296W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317869	NM_031921.6(ATAD3B):c.898C>T (p.Pro300Ser)	ATAD3B (P300S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290891	NM_031921.6(ATAD3B):c.1671T>G (p.Cys557Trp)	ATAD3B (C557W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276417	NM_031921.6(ATAD3B):c.298G>A (p.Val100Met)	ATAD3B (V54M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275176	NM_031921.6(ATAD3B):c.520G>A (p.Val174Met)	ATAD3B (V174M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274559	NM_031921.6(ATAD3B):c.914G>T (p.Arg305Leu)	ATAD3B (R259L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273626	NM_031921.4(ATAD3B):c.325C>T	ATAD3B (R63W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273270	NM_031921.6(ATAD3B):c.368C>A (p.Thr123Asn)	ATAD3B (T123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267842	NM_031921.6(ATAD3B):c.1104C>G (p.His368Gln)	ATAD3B (H322Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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