IMMT[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 2486935	NM_006839.3(IMMT):c.704C>T (p.Thr235Ile)	IMMT (T148I +15 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 2385247	NM_006839.3(IMMT):c.319G>A (p.Gly107Ser)	IMMT (G105S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	REEP1, REG1A +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

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Items: 68