IGDCC3[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 3285474	NM_004884.4(IGDCC3):c.2420C>T (p.Thr807Ile)	IGDCC3 (T807I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285473	NM_004884.4(IGDCC3):c.2359G>A (p.Asp787Asn)	IGDCC3 (D787N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315335	NM_004884.4(IGDCC3):c.2350C>T (p.Pro784Ser)	IGDCC3 (P784S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546241	NM_004884.4(IGDCC3):c.2341G>C (p.Ala781Pro)	IGDCC3 (A781P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458051	NM_004884.4(IGDCC3):c.2318C>T (p.Thr773Met)	IGDCC3 (T773M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258236	NM_004884.4(IGDCC3):c.2291C>T (p.Thr764Met)	IGDCC3 (T764M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401570	NM_004884.4(IGDCC3):c.2265G>T (p.Gln755His)	IGDCC3 (Q755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520549	NM_004884.4(IGDCC3):c.2239A>T (p.Thr747Ser)	IGDCC3 (T747S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530500	NM_004884.4(IGDCC3):c.2161T>G (p.Phe721Val)	IGDCC3 (F721V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478259	NM_004884.4(IGDCC3):c.2161T>C (p.Phe721Leu)	IGDCC3 (F721L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268693	NM_004884.4(IGDCC3):c.2132G>A (p.Arg711His)	IGDCC3 (R711H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454500	NM_004884.4(IGDCC3):c.2083A>C (p.Asn695His)	IGDCC3 (N695H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559624	NM_004884.4(IGDCC3):c.2066C>T (p.Pro689Leu)	IGDCC3 (P689L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108487	NM_004884.4(IGDCC3):c.2051G>A (p.Arg684Gln)	IGDCC3 (R684Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295885	NM_004884.4(IGDCC3):c.1984G>A (p.Gly662Ser)	IGDCC3 (G662S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212821	NM_004884.4(IGDCC3):c.1883G>A (p.Arg628Gln)	IGDCC3 (R628Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239767	NM_004884.4(IGDCC3):c.1822C>T (p.Arg608Cys)	IGDCC3 (R608C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559000	NM_004884.4(IGDCC3):c.1739A>G (p.Asn580Ser)	IGDCC3 (N580S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367244	NM_004884.4(IGDCC3):c.1726G>A (p.Val576Ile)	IGDCC3 (V576I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714658	NM_004884.4(IGDCC3):c.1725C>T (p.Thr575=)	IGDCC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463028	NM_004884.4(IGDCC3):c.1702G>A (p.Gly568Ser)	IGDCC3 (G568S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285475	NM_004884.4(IGDCC3):c.1676G>A (p.Arg559His)	IGDCC3 (R559H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461535	NM_004884.4(IGDCC3):c.1651G>A (p.Glu551Lys)	IGDCC3 (E551K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351942	NM_004884.4(IGDCC3):c.1588C>G (p.Arg530Gly)	IGDCC3 (R530G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615029	NM_004884.4(IGDCC3):c.1366G>A (p.Gly456Ser)	IGDCC3 (G456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645459	NM_004884.4(IGDCC3):c.1341G>A (p.Pro447=)	IGDCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329226	NM_004884.4(IGDCC3):c.1292G>A (p.Arg431Gln)	IGDCC3 (R431Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535738	NM_004884.4(IGDCC3):c.1291C>T (p.Arg431Trp)	IGDCC3 (R431W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381182	NM_004884.4(IGDCC3):c.1249G>A (p.Val417Ile)	IGDCC3 (V417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285476	NM_004884.4(IGDCC3):c.1242G>C (p.Arg414Ser)	IGDCC3 (R414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295745	NM_004884.4(IGDCC3):c.1207G>A (p.Glu403Lys)	IGDCC3 (E403K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108484	NM_004884.4(IGDCC3):c.1171G>A (p.Gly391Ser)	IGDCC3 (G391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609922	NM_004884.4(IGDCC3):c.1126G>A (p.Val376Ile)	IGDCC3 (V376I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407620	NM_004884.4(IGDCC3):c.1115C>T (p.Pro372Leu)	IGDCC3 (P372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591108	NM_004884.4(IGDCC3):c.1103A>G (p.Gln368Arg)	IGDCC3 (Q368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257148	NM_004884.4(IGDCC3):c.1085C>T (p.Thr362Met)	IGDCC3 (T362M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511692	NM_004884.4(IGDCC3):c.1075C>T (p.Pro359Ser)	IGDCC3 (P359S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253481	NM_004884.4(IGDCC3):c.1073C>T (p.Pro358Leu)	IGDCC3 (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776915	NM_004884.4(IGDCC3):c.894G>A (p.Thr298=)	IGDCC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2372902	NM_004884.4(IGDCC3):c.797G>A (p.Arg266His)	IGDCC3 (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368968	NM_004884.4(IGDCC3):c.788G>A (p.Gly263Asp)	IGDCC3 (G263D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787431	NM_004884.4(IGDCC3):c.686-7C>T	IGDCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2318439	NM_004884.4(IGDCC3):c.679G>A (p.Val227Met)	IGDCC3 (V227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287115	NM_004884.4(IGDCC3):c.628G>A (p.Val210Met)	IGDCC3 (V210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108491	NM_004884.4(IGDCC3):c.568C>T (p.Pro190Ser)	IGDCC3 (P190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285472	NM_004884.4(IGDCC3):c.542C>T (p.Thr181Met)	IGDCC3 (T181M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375567	NM_004884.4(IGDCC3):c.541A>T (p.Thr181Ser)	IGDCC3 (T181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108489	NM_004884.4(IGDCC3):c.386G>A (p.Arg129Gln)	IGDCC3 (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108488	NM_004884.4(IGDCC3):c.293T>C (p.Ile98Thr)	IGDCC3 (I98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212228	NM_004884.4(IGDCC3):c.280G>A (p.Gly94Arg)	IGDCC3 (G94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351330	NM_004884.4(IGDCC3):c.252G>T (p.Glu84Asp)	IGDCC3 (E84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784324	NM_004884.4(IGDCC3):c.154G>A (p.Val52Ile)	IGDCC3 (V52I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2205754	NM_004884.4(IGDCC3):c.115T>C (p.Ser39Pro)	IGDCC3 (S39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288981	NM_004884.4(IGDCC3):c.74T>G (p.Leu25Arg)	IGDCC3 (L25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108492	NM_004884.4(IGDCC3):c.73C>A (p.Leu25Met)	IGDCC3 (L25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285471	NM_004884.4(IGDCC3):c.44C>A (p.Pro15Gln)	IGDCC3 (P15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108490	NM_004884.4(IGDCC3):c.44C>G (p.Pro15Arg)	IGDCC3 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463417	NM_004884.4(IGDCC3):c.41C>T (p.Ala14Val)	IGDCC3 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809248	GRCh37/hg19 15q22.31(chr15:65437410-65659163)x3	CILP, CLPX +3 more	Copy number gain	not provided	GUncertain significance
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 685962	GRCh37/hg19 15q22.31(chr15:65258439-65742148)x3	RNU5A-1, SLC51B +12 more	Copy number gain	not provided	GUncertain significance
Select item 685961	GRCh37/hg19 15q22.31(chr15:65258583-65742148)x3	RASL12, RNU5A-1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 73