28535[HGNC] - ClinVar

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Items: 56

	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 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +51 more	Copy number gain	See cases	GUncertain significance
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 3139458	NM_001286159.2(CCDC83):c.123G>C (p.Glu41Asp)	CCDC83 (E41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623305	NM_001286159.2(CCDC83):c.164A>G (p.Gln55Arg)	CCDC83 (Q55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264327	NM_001286159.2(CCDC83):c.188G>A (p.Arg63His)	CCDC83 (R63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289114	NM_001286159.2(CCDC83):c.224T>C (p.Leu75Pro)	CCDC83 (L75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455603	NM_001286159.2(CCDC83):c.240T>A (p.Ser80Arg)	CCDC83 (S80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536459	NM_001286159.2(CCDC83):c.249G>T (p.Lys83Asn)	CCDC83 (K83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139461	NM_001286159.2(CCDC83):c.353T>C (p.Met118Thr)	CCDC83 (M118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315616	NM_001286159.2(CCDC83):c.354G>A (p.Met118Ile)	CCDC83 (M118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139462	NM_001286159.2(CCDC83):c.382C>T (p.Leu128Phe)	CCDC83 (L128F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595905	NM_001286159.2(CCDC83):c.446C>T (p.Ala149Val)	CCDC83 (A149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400017	NM_001286159.2(CCDC83):c.470A>G (p.Asn157Ser)	CCDC83 (N157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264331	NM_001286159.2(CCDC83):c.539C>A (p.Thr180Asn)	CCDC83 (T180N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642247	NM_001286159.2(CCDC83):c.579C>T (p.Asp193=)	CCDC83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3139463	NM_001286159.2(CCDC83):c.707A>G (p.Lys236Arg)	CCDC83 (K236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231880	NM_001286159.2(CCDC83):c.716T>C (p.Ile239Thr)	CCDC83 (I239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264328	NM_001286159.2(CCDC83):c.745C>T (p.Leu249Phe)	CCDC83 (L249F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557004	NM_001286159.2(CCDC83):c.794+1269C>G	CCDC83 (P273A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266047	NM_001286159.2(CCDC83):c.794+1294T>C	CCDC83 (L281P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391919	NM_001286159.2(CCDC83):c.836C>T (p.Pro279Leu)	CCDC83 (P310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264329	NM_001286159.2(CCDC83):c.921G>C (p.Leu307Phe)	CCDC83 (L338F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139456	NM_001286159.2(CCDC83):c.932C>T (p.Ser311Leu)	CCDC83 (S311L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278927	NM_001286159.2(CCDC83):c.953A>C (p.His318Pro)	CCDC83 (H318P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376819	NM_001286159.2(CCDC83):c.976G>A (p.Glu326Lys)	CCDC83 (E357K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523977	NM_001286159.2(CCDC83):c.1084T>C (p.Tyr362His)	CCDC83 (Y362H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264330	NM_001286159.2(CCDC83):c.1141C>G (p.Pro381Ala)	CCDC83 (P381A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139459	NM_001286159.2(CCDC83):c.1176A>T (p.Lys392Asn)	CCDC83 (K423N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139460	NM_001286159.2(CCDC83):c.1188T>G (p.Asp396Glu)	CCDC83 (D396E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
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 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1807938	GRCh37/hg19 11q14.1-14.2(chr11:85446871-85629741)x1	CCDC83, SYTL2	Copy number loss	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 1527657	GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)	CCDC83, CCDC89 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
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 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980962	GRCh37/hg19 11q14.1(chr11:85452186-85595636)x1	CCDC83, SYTL2	Copy number loss	not provided	GUncertain significance
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	TMEM126A, PRSS23 +13 more	Copy number loss	not provided	GPathogenic
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 560087	Single allele	EED, TMEM126A +13 more	Deletion	Exudative vitreoretinopathy 1	GPathogenic
Select item 443004	GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3	CCDC81, CCDC83 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442075	GRCh37/hg19 11q14.1-14.2(chr11:85475317-85681916)x1	CCDC83, PICALM +1 more	Copy number loss	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: 56