CCDC92[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +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 3264426	NM_025140.3(CCDC92):c.868G>A (p.Gly290Arg)	CCDC92 (G273R +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 3264427	NM_025140.3(CCDC92):c.96G>T (p.Lys32Asn)	CCDC92 (K15N +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)	AACS, ATP6V0A2 +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)	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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 49