IMMT[gene] - ClinVar

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

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 58875	GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4	IMMT, LOC106783498 +22 more	Copy number gain	See cases	GUncertain significance
Select item 154917	GRCh38/hg38 2p11.2(chr2:86062007-86282203)x4	IMMT, LOC112841602 +19 more	Copy number gain	See cases	GLikely benign
Select item 150348	GRCh38/hg38 2p11.2(chr2:86062007-86282203)x3	IMMT, LOC112841602 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58876	GRCh38/hg38 2p11.2(chr2:86073968-86251223)x3	IMMT, LOC112841602 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146038	GRCh38/hg38 2p11.2(chr2:86078247-86282144)x3	IMMT, LOC112841602 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2369039	NM_006839.3(IMMT):c.2242G>A (p.Val748Ile)	IMMT (V489I +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318561	NM_006839.3(IMMT):c.2242G>T (p.Val748Leu)	IMMT (V274L +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459970	NM_006839.3(IMMT):c.2156G>A (p.Arg719Gln)	IMMT (R425Q +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209514	NM_006839.3(IMMT):c.2096A>C (p.Glu699Ala)	IMMT (E440A +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 733495	NM_006839.3(IMMT):c.2020C>T (p.Leu674=)	IMMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598173	NM_006839.3(IMMT):c.1900C>G (p.Arg634Gly)	IMMT (R330G +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 754820	NM_006839.3(IMMT):c.1899C>T (p.Ala633=)	IMMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742520	NM_006839.3(IMMT):c.1840G>A (p.Ala614Thr)	IMMT (A613T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2287116	NM_006839.3(IMMT):c.1836A>T (p.Leu612Phe)	IMMT (L308F +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382334	NM_006839.3(IMMT):c.1831G>A (p.Ala611Thr)	IMMT (A595T +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109534	NM_006839.3(IMMT):c.1808G>T (p.Cys603Phe)	IMMT (C504F +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109532	NM_006839.3(IMMT):c.1781G>C (p.Ser594Thr)	IMMT (S335T +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109531	NM_006839.3(IMMT):c.1717G>C (p.Val573Leu)	IMMT (V485L +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335354	NM_006839.3(IMMT):c.1624G>A (p.Ala542Thr)	IMMT (A283T +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387558	NM_006839.3(IMMT):c.1576C>T (p.Arg526Cys)	IMMT (R439C +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 760809	NM_006839.3(IMMT):c.1500A>T (p.Val500=)	IMMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3109530	NM_006839.3(IMMT):c.1454G>A (p.Arg485Gln)	IMMT (R191Q +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109529	NM_006839.3(IMMT):c.1427A>C (p.Glu476Ala)	IMMT (E172A +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109528	NM_006839.3(IMMT):c.1328G>A (p.Arg443Gln)	IMMT (R149Q +24 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 791466	NM_006839.3(IMMT):c.1303G>A (p.Glu435Lys)	IMMT (E434K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2529264	NM_006839.3(IMMT):c.1292C>T (p.Thr431Met)	IMMT (T333M +24 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109527	NM_006839.3(IMMT):c.1282C>G (p.Gln428Glu)	IMMT (Q324E +24 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533025	NM_006839.3(IMMT):c.1163G>A (p.Ser388Asn)	IMMT (S289N +19 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2335858	NM_006839.3(IMMT):c.1096C>T (p.Arg366Trp)	IMMT (R267W +19 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109526	NM_006839.3(IMMT):c.1076A>G (p.His359Arg)	IMMT (H100R +19 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2446893	NM_006839.3(IMMT):c.895A>G (p.Lys299Glu)	IMMT (K200E +15 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 773837	NM_006839.3(IMMT):c.801C>G (p.Gly267=)	IMMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740167	NM_006839.3(IMMT):c.774C>T (p.Ala258=)	IMMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3109537	NM_006839.3(IMMT):c.761A>G (p.Asn254Ser)	IMMT (N235S +15 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2486935	NM_006839.3(IMMT):c.704C>T (p.Thr235Ile)	IMMT (T148I +15 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3109536	NM_006839.3(IMMT):c.682C>G (p.Leu228Val)	IMMT (L140V +15 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2315762	NM_006839.3(IMMT):c.658C>G (p.Leu220Val)	IMMT (L122V +14 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 773123	NM_006839.3(IMMT):c.513T>C (p.Thr171=)	IMMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2337803	NM_006839.3(IMMT):c.510A>T (p.Lys170Asn)	IMMT (K157N +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 728851	NM_006839.3(IMMT):c.471G>T (p.Ser157=)	IMMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109535	NM_006839.3(IMMT):c.470C>T (p.Ser157Leu)	IMMT (S146L +7 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2385247	NM_006839.3(IMMT):c.319G>A (p.Gly107Ser)	IMMT (G105S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294361	NM_006839.3(IMMT):c.280G>A (p.Ala94Thr)	IMMT (A94T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299178	NM_006839.3(IMMT):c.271G>T (p.Gly91Cys)	IMMT (G91C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3236603	NM_006839.3(IMMT):c.127A>G (p.Thr43Ala)	IMMT (T43A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1342181	NM_006839.3(IMMT):c.119+4_119+49del	IMMT	Deletion (splice donor variant)	See cases	GUncertain significance
Select item 769567	NM_006839.3(IMMT):c.119+4T>C	IMMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2462345	NM_006839.3(IMMT):c.104C>T (p.Thr35Ile)	IMMT (T35I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3109533	NM_006839.3(IMMT):c.17A>T (p.Gln6Leu)	IMMT, LOC129934247 (Q6L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	POLR1A, ATOH8 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 1879530	GRCh37/hg19 2p11.2(chr2:86292397-86509365)x3	IMMT, MRPL35 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1807593	GRCh37/hg19 2p11.2(chr2:86276346-86373271)x1	IMMT, POLR1A +1 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1411951	NC_000002.11:g.(?_86292377)_(86509385_?)dup	IMMT, MRPL35 +3 more	Duplication	not provided	GUncertain significance
Select item 1410487	NC_000002.11:g.(?_86067267)_(87017948_?)del	CD8A, CHMP3 +10 more	Deletion	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 980433	GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3	GGCX, VAMP5 +14 more	Copy number gain	not provided	GUncertain significance
Select item 814280	GRCh37/hg19 2p11.2(chr2:86286478-86516984)x3	MRPL35, REEP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685965	GRCh37/hg19 2p11.2(chr2:85948835-86438539)x3	ST3GAL5, ATOH8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443280	GRCh37/hg19 2p11.2(chr2:86285942-86519023)x4	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443069	GRCh37/hg19 2p11.2(chr2:86286440-86505779)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 442440	GRCh37/hg19 2p11.2(chr2:86286136-86516984)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442345	GRCh37/hg19 2p11.2(chr2:86285942-86519246)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441798	GRCh37/hg19 2p11.2(chr2:86285942-86516984)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 441573	GRCh37/hg19 2p11.2(chr2:86285942-86506132)x4	IMMT, MRPL35 +3 more	Copy number gain	See cases	GLikely benign
Select item 441557	GRCh37/hg19 2p11.2(chr2:86285942-86506131)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GLikely benign
Select item 394890	GRCh37/hg19 2p11.2(chr2:86298862-86509267)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 254026	GRCh37/hg19 2p11.2(chr2:86298862-86509326)x3	IMMT, PTCD3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253751	GRCh37/hg19 2p11.2(chr2:86269067-86509326)x3	REEP1, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 81