ClinVar for Gene (Select 11007) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139480	NM_006848.3(CCDC85B):c.596C>T (p.Ser199Phe)	CCDC85B (S199F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139479	NM_006848.3(CCDC85B):c.182G>T (p.Arg61Leu)	CCDC85B (R61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2597800	NM_006848.3(CCDC85B):c.196C>T (p.Leu66Phe)	CCDC85B (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588573	NM_006848.3(CCDC85B):c.428C>T (p.Ala143Val)	CCDC85B (A143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544375	NM_006848.3(CCDC85B):c.454G>A (p.Gly152Ser)	CCDC85B (G152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523231	NM_006848.3(CCDC85B):c.200A>G (p.Asn67Ser)	CCDC85B (N67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522197	NM_006848.3(CCDC85B):c.186G>C (p.Glu62Asp)	CCDC85B (E62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2368772	NM_006848.3(CCDC85B):c.578A>T (p.Gln193Leu)	CCDC85B (Q193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361668	NM_006848.3(CCDC85B):c.515C>T (p.Pro172Leu)	CCDC85B (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360419	NM_006848.3(CCDC85B):c.592T>C (p.Cys198Arg)	CCDC85B (C198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299209	NM_006848.3(CCDC85B):c.514C>G (p.Pro172Ala)	CCDC85B (P172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221048	NM_006848.3(CCDC85B):c.69G>C (p.Glu23Asp)	CCDC85B, LOC130006082 (E23D)	Single nucleotide variant (missense variant)	not specified	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 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
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
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 58163	GRCh38/hg38 11q13.1(chr11:65881597-65893890)x3	CCDC85B, CTSW +8 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 26