ITM2C[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 2330387	NM_030926.6(ITM2C):c.28G>T (p.Val10Leu)	ITM2C (V10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286959	NM_030926.6(ITM2C):c.73G>A (p.Ala25Thr)	ITM2C (A25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354251	NM_030926.6(ITM2C):c.83C>T (p.Pro28Leu)	ITM2C (P28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539715	NM_030926.6(ITM2C):c.152G>C (p.Arg51Thr)	ITM2C (R51T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111676	NM_030926.6(ITM2C):c.153G>C (p.Arg51Ser)	ITM2C (R51S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467656	NM_030926.6(ITM2C):c.169G>A (p.Gly57Ser)	ITM2C (G57S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377477	NM_030926.6(ITM2C):c.208A>G (p.Met70Val)	ITM2C (M70V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286957	NM_030926.6(ITM2C):c.220T>A (p.Phe74Ile)	ITM2C (F12I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216988	NM_030926.6(ITM2C):c.269G>A (p.Arg90Gln)	ITM2C (R28Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286958	NM_030926.6(ITM2C):c.284G>A (p.Arg95His)	ITM2C (R48H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515362	NM_030926.6(ITM2C):c.475T>A (p.Ser159Thr)	ITM2C (S97T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532315	NM_030926.6(ITM2C):c.491A>G (p.Tyr164Cys)	ITM2C (Y102C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111677	NM_030926.6(ITM2C):c.530G>A (p.Arg177His)	ITM2C (R115H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487652	NM_030926.6(ITM2C):c.556G>A (p.Val186Met)	ITM2C (V124M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621715	NM_030926.6(ITM2C):c.562A>T (p.Arg188Trp)	ITM2C (R126W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775830	NM_030926.6(ITM2C):c.645G>T (p.Gly215=)	ITM2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791896	NM_030926.6(ITM2C):c.661C>T (p.Leu221=)	ITM2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3111678	NM_030926.6(ITM2C):c.667A>T (p.Asn223Tyr)	ITM2C (N176Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392103	NM_030926.6(ITM2C):c.692G>A (p.Arg231Gln)	ITM2C (R169Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204850	NM_030926.6(ITM2C):c.695G>A (p.Arg232His)	ITM2C (R170H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111679	NM_030926.6(ITM2C):c.697C>T (p.Arg233Trp)	ITM2C (R233W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341724	NM_030926.6(ITM2C):c.706C>T (p.Arg236Trp)	ITM2C (R174W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111680	NM_030926.6(ITM2C):c.722A>G (p.Lys241Arg)	ITM2C (K179R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	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 1526961	GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182)	CAB39, DNER +11 more	Copy number loss	not specified	GPathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SPATA3, UGT1A3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 446435	GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1	C2orf72, CAB39 +13 more	Copy number loss	not specified	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 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 53