CCDC90B[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 155228	GRCh38/hg38 11q14.1(chr11:83066124-84475390)x3	ANKRD42, ANKRD42-DT +28 more	Copy number gain	See cases	GUncertain significance
Select item 3264421	NM_021825.5(CCDC90B):c.704T>C (p.Leu235Pro)	CCDC90B (L134P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603006	NM_021825.5(CCDC90B):c.697C>A (p.Arg233Ser)	CCDC90B (R132S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139625	NM_021825.5(CCDC90B):c.683A>G (p.Lys228Arg)	CCDC90B (K113R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594692	NM_021825.5(CCDC90B):c.581A>T (p.Glu194Val)	CCDC90B (E96V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594691	NM_021825.5(CCDC90B):c.580G>A (p.Glu194Lys)	CCDC90B (E93K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508335	NM_021825.5(CCDC90B):c.566T>C (p.Met189Thr)	CCDC90B (M74T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361774	NM_021825.5(CCDC90B):c.557A>G (p.Lys186Arg)	CCDC90B (K88R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364915	NM_021825.5(CCDC90B):c.529G>A (p.Val177Ile)	CCDC90B (V177I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139623	NM_021825.5(CCDC90B):c.488G>C (p.Arg163Thr)	CCDC90B (R65T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623518	NM_021825.5(CCDC90B):c.482G>A (p.Arg161Gln)	CCDC90B (R161Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139622	NM_021825.5(CCDC90B):c.394A>C (p.Ser132Arg)	CCDC90B (S17R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139621	NM_021825.5(CCDC90B):c.383T>C (p.Ile128Thr)	CCDC90B (I128T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264423	NM_021825.5(CCDC90B):c.375C>G (p.Asp125Glu)	CCDC90B (D10E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481969	NM_021825.5(CCDC90B):c.301G>A (p.Glu101Lys)	CCDC90B (E101K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2407268	NM_021825.5(CCDC90B):c.250G>C (p.Val84Leu)	CCDC90B (V84L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139620	NM_021825.5(CCDC90B):c.236A>G (p.Gln79Arg)	CCDC90B (Q79R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139619	NM_021825.5(CCDC90B):c.215C>T (p.Thr72Ile)	CCDC90B (T72I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139618	NM_021825.5(CCDC90B):c.139C>T (p.Arg47Trp)	CCDC90B (R47W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139617	NM_021825.5(CCDC90B):c.115A>G (p.Thr39Ala)	CCDC90B (T39A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2233198	NM_021825.5(CCDC90B):c.110C>T (p.Thr37Ile)	CCDC90B (T37I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3264422	NM_021825.5(CCDC90B):c.82T>C (p.Ser28Pro)	CCDC90B (S28P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139624	NM_021825.5(CCDC90B):c.67C>A (p.Pro23Thr)	CCDC90B (P23T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2599611	NM_021825.5(CCDC90B):c.22C>T (p.Arg8Trp)	CCDC90B (R8W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1809165	GRCh37/hg19 11q14.1(chr11:82964288-83060768)x1	CCDC90B	Copy number loss	not provided	GUncertain significance
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1808160	GRCh37/hg19 11q14.1(chr11:82859094-83324406)x3	ANKRD42, CCDC90B +2 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980960	GRCh37/hg19 11q14.1(chr11:82618269-83454773)x3	ANKRD42, CCDC90B +4 more	Copy number gain	not provided	GUncertain significance
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 443209	GRCh37/hg19 11q14.1(chr11:82653859-83566849)x3	ANKRD42, CCDC90B +3 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 41