CCDC92[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2221953	NM_025140.3(CCDC92):c.937G>A (p.Asp313Asn)	CCDC92 (D296N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139642	NM_025140.3(CCDC92):c.916G>A (p.Glu306Lys)	CCDC92 (E289K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613868	NM_025140.3(CCDC92):c.896C>T (p.Thr299Ile)	CCDC92 (T282I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360306	NM_025140.3(CCDC92):c.881G>A (p.Arg294Gln)	CCDC92 (R277Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613655	NM_025140.3(CCDC92):c.869G>C (p.Gly290Ala)	CCDC92 (G273A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615786	NM_025140.3(CCDC92):c.864C>A (p.His288Gln)	CCDC92 (H288Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249331	NM_025140.3(CCDC92):c.820G>A (p.Gly274Ser)	CCDC92 (G257S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139640	NM_025140.3(CCDC92):c.811G>A (p.Asp271Asn)	CCDC92 (D254N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347127	NM_025140.3(CCDC92):c.805G>A (p.Ala269Thr)	CCDC92 (A252T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139639	NM_025140.3(CCDC92):c.800C>G (p.Pro267Arg)	CCDC92 (P250R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595837	NM_025140.3(CCDC92):c.799C>G (p.Pro267Ala)	CCDC92 (P250A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605590	NM_025140.3(CCDC92):c.790G>A (p.Val264Ile)	CCDC92 (V247I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602553	NM_025140.3(CCDC92):c.760G>A (p.Glu254Lys)	CCDC92 (E254K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468134	NM_025140.3(CCDC92):c.701G>A (p.Arg234Gln)	CCDC92 (R217Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472193	NM_025140.3(CCDC92):c.682A>G (p.Ser228Gly)	CCDC92 (S211G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315921	NM_025140.3(CCDC92):c.677C>T (p.Ala226Val)	CCDC92 (A209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384599	NM_025140.3(CCDC92):c.608G>A (p.Arg203His)	CCDC92 (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220230	NM_025140.3(CCDC92):c.602C>T (p.Thr201Met)	CCDC92 (T184M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139638	NM_025140.3(CCDC92):c.502A>C (p.Lys168Gln)	CCDC92 (K151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622959	NM_025140.3(CCDC92):c.373G>A (p.Glu125Lys)	CCDC92 (E108K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139637	NM_025140.3(CCDC92):c.301G>A (p.Glu101Lys)	CCDC92 (E84K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289575	NM_025140.3(CCDC92):c.255G>T (p.Lys85Asn)	CCDC92 (K85N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139636	NM_025140.3(CCDC92):c.160C>T (p.Arg54Trp)	CCDC92 (R54W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485163	NM_025140.3(CCDC92):c.151G>A (p.Glu51Lys)	CCDC92 (E51K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219634	NM_025140.3(CCDC92):c.116G>A (p.Arg39Gln)	CCDC92 (R22Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139641	NM_025140.3(CCDC92):c.86G>A (p.Ser29Asn)	CCDC92 (S12N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684687	GRCh37/hg19 12q24.31(chr12:124232946-124728014)x3	ATP6V0A2, CCDC92 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1047868	GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)	BRI3BP, CCDC92 +19 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 563936	GRCh37/hg19 12q24.31(chr12:124097565-124462296)x3	EIF2B1, TCTN2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47