CCDC91[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 545156	NC_000012.12:g.(?_28125337)_(28231096_?)del	CCDC91, LOC124629338 +9 more	Deletion	Autism	GLikely pathogenic
Select item 2530922	NM_018318.5(CCDC91):c.158G>A (p.Arg53His)	CCDC91 (R23H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224689	NM_018318.5(CCDC91):c.287C>T (p.Thr96Ile)	CCDC91 (T96I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139630	NM_018318.5(CCDC91):c.296A>G (p.Asp99Gly)	CCDC91 (D69G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735326	NM_018318.5(CCDC91):c.362A>G (p.Asp121Gly)	CCDC91 (D112G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2363562	NM_018318.5(CCDC91):c.418A>G (p.Ser140Gly)	CCDC91 (S140G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264424	NM_018318.5(CCDC91):c.458A>G (p.Gln153Arg)	CCDC91 (Q123R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264425	NM_018318.5(CCDC91):c.514G>A (p.Gly172Ser)	CCDC91 (G142S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328931	NM_018318.5(CCDC91):c.541G>A (p.Ala181Thr)	CCDC91 (A151T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326962	NM_018318.5(CCDC91):c.643G>T (p.Asp215Tyr)	CCDC91 (D185Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139631	NM_018318.5(CCDC91):c.709A>G (p.Ile237Val)	CCDC91 (I211V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139632	NM_018318.5(CCDC91):c.719T>C (p.Ile240Thr)	CCDC91 (I78T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337599	NM_018318.5(CCDC91):c.745G>C (p.Glu249Gln)	CCDC91 (E223Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139633	NM_018318.5(CCDC91):c.771G>C (p.Arg257Ser)	CCDC91 (R248S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139634	NM_018318.5(CCDC91):c.791C>A (p.Thr264Lys)	CCDC91 (T228K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139635	NM_018318.5(CCDC91):c.884A>T (p.Glu295Val)	CCDC91 (E133V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204992	NM_018318.5(CCDC91):c.964G>A (p.Val322Ile)	CCDC91 (V160I +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139626	NM_018318.5(CCDC91):c.1051G>T (p.Val351Leu)	CCDC91 (V189L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139627	NM_018318.5(CCDC91):c.1139G>A (p.Arg380Gln)	CCDC91 (R218Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139628	NM_018318.5(CCDC91):c.1178G>C (p.Arg393Thr)	CCDC91 (R363T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519395	NM_018318.5(CCDC91):c.1181A>T (p.Asp394Val)	CCDC91 (D394V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387773	NM_018318.5(CCDC91):c.1200A>G (p.Ile400Met)	CCDC91 (I370M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781069	NM_018318.5(CCDC91):c.1207C>A (p.Gln403Lys)	CCDC91 (Q367K +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2235487	NM_018318.5(CCDC91):c.1298T>C (p.Ile433Thr)	CCDC91 (I433T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2685051	GRCh37/hg19 12p11.23-11.22(chr12:27514172-29338877)x4	BMAL2, CCDC91 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 52