20397[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 155488	GRCh38/hg38 16p13.2-13.13(chr16:9992260-10429871)x3	ATF7IP2, GRIN2A +14 more	Copy number gain	See cases	GUncertain significance
Select item 155219	GRCh38/hg38 16p13.2-13.13(chr16:9992260-10427239)x3	LOC125146403, LOC125146404 +14 more	Copy number gain	See cases	GUncertain significance
Select item 155073	GRCh38/hg38 16p13.2-13.13(chr16:9992260-10445959)x3	ATF7IP2, GRIN2A +14 more	Copy number gain	See cases	GUncertain significance
Select item 154243	GRCh38/hg38 16p13.2(chr16:9992260-10398815)x3	ATF7IP2, GRIN2A +14 more	Copy number gain	See cases	GLikely benign
Select item 151406	GRCh38/hg38 16p13.2-13.13(chr16:9992260-10429970)x3	ATF7IP2, GRIN2A +14 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 152697	GRCh38/hg38 16p13.2-13.13(chr16:9998191-10426437)x3	ATF7IP2, GRIN2A +14 more	Copy number gain	See cases	GUncertain significance
Select item 154562	GRCh38/hg38 16p13.2-13.13(chr16:10012281-10426437)x3	ATF7IP2, GRIN2A +14 more	Copy number gain	See cases	GUncertain significance
Select item 2524923	NM_001393719.1(ATF7IP2):c.10C>A (p.Pro4Thr)	ATF7IP2 (P4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320672	NM_001393719.1(ATF7IP2):c.25C>T (p.Arg9Trp)	ATF7IP2 (R9W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320681	NM_001393719.1(ATF7IP2):c.67C>T (p.Arg23Trp)	ATF7IP2 (R23W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320643	NM_001393719.1(ATF7IP2):c.68G>A (p.Arg23Gln)	ATF7IP2 (R23Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242002	NM_001393719.1(ATF7IP2):c.79G>A (p.Glu27Lys)	ATF7IP2 (E27K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130839	NM_001393719.1(ATF7IP2):c.113T>C (p.Leu38Pro)	ATF7IP2 (L38P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130842	NM_001393719.1(ATF7IP2):c.131G>A (p.Ser44Asn)	ATF7IP2 (S44N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2229043	NM_001393719.1(ATF7IP2):c.172A>G (p.Ile58Val)	ATF7IP2 (I58V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526145	NM_001393719.1(ATF7IP2):c.176C>G (p.Thr59Ser)	ATF7IP2 (T59S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2243773	NM_001393719.1(ATF7IP2):c.182C>T (p.Thr61Met)	ATF7IP2 (T61M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320664	NM_001393719.1(ATF7IP2):c.206C>A (p.Pro69His)	ATF7IP2 (P69H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2378502	NM_001393719.1(ATF7IP2):c.221C>T (p.Ala74Val)	ATF7IP2 (A74V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130847	NM_001393719.1(ATF7IP2):c.250A>G (p.Ile84Val)	ATF7IP2 (I84V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130848	NM_001393719.1(ATF7IP2):c.338T>A (p.Val113Asp)	ATF7IP2 (V113D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130849	NM_001393719.1(ATF7IP2):c.344C>T (p.Ser115Leu)	ATF7IP2 (S115L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622243	NM_001393719.1(ATF7IP2):c.400G>T (p.Ala134Ser)	ATF7IP2 (A134S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328701	NM_001393719.1(ATF7IP2):c.451G>A (p.Val151Ile)	ATF7IP2 (V151I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2613654	NM_001393719.1(ATF7IP2):c.470A>G (p.Glu157Gly)	ATF7IP2 (E157G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385014	NM_001393719.1(ATF7IP2):c.472C>T (p.His158Tyr)	ATF7IP2 (H158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320682	NM_001393719.1(ATF7IP2):c.481G>A (p.Ala161Thr)	ATF7IP2 (A161T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320679	NM_001393719.1(ATF7IP2):c.559A>G (p.Ser187Gly)	ATF7IP2 (S187G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490535	NM_001393719.1(ATF7IP2):c.560G>A (p.Ser187Asn)	ATF7IP2 (S187N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130850	NM_001393719.1(ATF7IP2):c.630T>A (p.His210Gln)	ATF7IP2 (H210Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589425	NM_001393719.1(ATF7IP2):c.667G>C (p.Asp223His)	ATF7IP2 (D223H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2270741	NM_001393719.1(ATF7IP2):c.719C>T (p.Thr240Ile)	ATF7IP2 (T240I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130851	NM_001393719.1(ATF7IP2):c.761G>A (p.Cys254Tyr)	ATF7IP2 (C254Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459879	NM_001393719.1(ATF7IP2):c.781A>G (p.Asn261Asp)	ATF7IP2 (N261D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320684	NM_001393719.1(ATF7IP2):c.877A>G (p.Asn293Asp)	ATF7IP2 (N293D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320649	NM_001393719.1(ATF7IP2):c.889A>T (p.Met297Leu)	ATF7IP2 (M297L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241426	NM_001393719.1(ATF7IP2):c.890T>A (p.Met297Lys)	ATF7IP2 (M297K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249577	NM_001393719.1(ATF7IP2):c.944C>T (p.Thr315Ile)	ATF7IP2 (T315I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320683	NM_001393719.1(ATF7IP2):c.995T>C (p.Ile332Thr)	ATF7IP2 (I332T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304533	NM_001393719.1(ATF7IP2):c.1050G>T (p.Lys350Asn)	ATF7IP2 (K350N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252677	NM_001393719.1(ATF7IP2):c.1079T>C (p.Ile360Thr)	ATF7IP2 (I360T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482256	NM_001393719.1(ATF7IP2):c.1081G>A (p.Ala361Thr)	ATF7IP2 (A361T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280332	NM_001393719.1(ATF7IP2):c.1089A>C (p.Lys363Asn)	ATF7IP2 (K363N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494922	NM_001393719.1(ATF7IP2):c.1097C>T (p.Ala366Val)	ATF7IP2 (A366V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646202	NM_001393719.1(ATF7IP2):c.1131A>C (p.Thr377=)	ATF7IP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3130840	NM_001393719.1(ATF7IP2):c.1169T>C (p.Met390Thr)	ATF7IP2 (M390T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130841	NM_001393719.1(ATF7IP2):c.1209G>C (p.Glu403Asp)	ATF7IP2 (E403D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298940	NM_001393719.1(ATF7IP2):c.1270A>C (p.Asn424His)	ATF7IP2 (N424H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455599	NM_001393719.1(ATF7IP2):c.1314T>G (p.Ile438Met)	ATF7IP2 (I438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337597	NM_001393719.1(ATF7IP2):c.1396T>A (p.Leu466Met)	ATF7IP2 (L466M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130843	NM_001393719.1(ATF7IP2):c.1423A>G (p.Thr475Ala)	ATF7IP2 (T475A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130844	NM_001393719.1(ATF7IP2):c.1451A>G (p.Asn484Ser)	ATF7IP2 (N484S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320653	NM_001393719.1(ATF7IP2):c.1460A>G (p.Asn487Ser)	ATF7IP2 (N487S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2385472	NM_001393719.1(ATF7IP2):c.1505C>G (p.Ser502Cys)	ATF7IP2 (S502C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130846	NM_001393719.1(ATF7IP2):c.1601A>G (p.Lys534Arg)	ATF7IP2 (R512G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251476	NM_001393719.1(ATF7IP2):c.1604A>G (p.Glu535Gly)	ATF7IP2 (E535G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301533	NM_001393719.1(ATF7IP2):c.1618G>T (p.Ala540Ser)	ATF7IP2 (W517C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320687	NM_001393719.1(ATF7IP2):c.1658T>C (p.Leu553Pro)	ATF7IP2 (C531R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287587	NM_001393719.1(ATF7IP2):c.1667T>C (p.Leu556Pro)	ATF7IP2 (S534P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372931	NM_001393719.1(ATF7IP2):c.1753C>T (p.Arg585Trp)	ATF7IP2 (R585W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2262128	NM_001393719.1(ATF7IP2):c.1799A>G (p.Lys600Arg)	ATF7IP2 (K600R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 993813	NM_001393719.1(ATF7IP2):c.1812G>C (p.Lys604Asn)	ATF7IP2 (K604N)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3320685	NM_001393719.1(ATF7IP2):c.1861A>G (p.Asn621Asp)	ATF7IP2 (N621D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 1809045	GRCh37/hg19 16p13.2-13.13(chr16:10473817-10637006)x1	ATF7IP2, EMP2	Copy number loss	not provided	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1808274	GRCh37/hg19 16p13.2-13.13(chr16:10092309-10523728)x3	ATF7IP2, GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526501	GRCh37/hg19 16p13.2-13.13(chr16:10086117-10539816)	ATF7IP2, GRIN2A	Copy number gain	not specified	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	ABAT, ATF7IP2 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 1341212	GRCh37/hg19 16p13.2-13.13(chr16:10086117-10521096)x3	ATF7IP2, GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980085	GRCh37/hg19 16p13.13(chr16:10564571-10623355)x1	ATF7IP2, EMP2	Copy number loss	not provided	GLikely benign
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 689263	GRCh37/hg19 16p13.2-13.13(chr16:10086117-10519593)x3	ATF7IP2, GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 689239	GRCh37/hg19 16p13.2-13.13(chr16:10086117-10519593)x3	ATF7IP2, GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 688884	GRCh37/hg19 16p13.13(chr16:10570795-10671761)x1	ATF7IP2, EMP2	Copy number loss	not provided	GUncertain significance
Select item 688399	GRCh37/hg19 16p13.13(chr16:10563055-10958954)x1	ATF7IP2, EMP2 +3 more	Copy number loss	not provided	GPathogenic
Select item 688141	GRCh37/hg19 16p13.2-13.13(chr16:10086117-10521096)x3	ATF7IP2, GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 688055	GRCh37/hg19 16p13.13(chr16:10575823-10657664)x1	ATF7IP2, EMP2	Copy number loss	not provided	GUncertain significance
Select item 687023	GRCh37/hg19 16p13.2-13.13(chr16:10086117-10521096)x3	ATF7IP2, GRIN2A	Copy number gain	not provided	GUncertain significance
Select item 684953	GRCh37/hg19 16p13.2-13.13(chr16:10196800-11037738)x1	DEXI, EMP2 +6 more	Copy number loss	not provided	GPathogenic
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442736	GRCh37/hg19 16p13.2-13.13(chr16:10086117-10519593)x3	ATF7IP2, GRIN2A	Copy number gain	See cases	GUncertain significance
Select item 442729	GRCh37/hg19 16p13.2-13.13(chr16:10078789-10523827)x3	ATF7IP2, GRIN2A	Copy number gain	See cases	GLikely benign
Select item 442605	GRCh37/hg19 16p13.13(chr16:10519916-11249329)x3	ATF7IP2, CIITA +6 more	Copy number gain	See cases	GLikely benign
Select item 441882	GRCh37/hg19 16p13.2-13.13(chr16:9321032-10971457)x3	CIITA, EMP2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 441850	GRCh37/hg19 16p13.2(chr16:10269086-10492672)x3	ATF7IP2, GRIN2A	Copy number gain	See cases	GUncertain significance

<< First< Prev

Page of 2