ClinVar for Gene (Select 55206) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	CDK2AP1, DIABLO +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3158053	NM_001167856.3(SBNO1):c.385A>G (p.Ser129Gly)	SBNO1 (S128G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158052	NM_001167856.3(SBNO1):c.3524T>C (p.Val1175Ala)	SBNO1 (V1174A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158050	NM_001167856.3(SBNO1):c.341A>G (p.Asn114Ser)	SBNO1 (N114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158049	NM_001167856.3(SBNO1):c.3238A>G (p.Ile1080Val)	SBNO1 (I1080V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158048	NM_001167856.3(SBNO1):c.2738T>C (p.Leu913Pro)	SBNO1 (L912P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158047	NM_001167856.3(SBNO1):c.2611C>G (p.Pro871Ala)	SBNO1 (P871A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158045	NM_001167856.3(SBNO1):c.2164G>A (p.Val722Ile)	SBNO1 (V721I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158044	NM_001167856.3(SBNO1):c.2072A>G (p.Asn691Ser)	SBNO1 (N690S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3063249	GRCh37/hg19 12q24.31(chr12:123586597-124015352)x3	CDK2AP1, KMT5A +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063242	GRCh37/hg19 12q24.31(chr12:123651965-124044014)x3	CDK2AP1, KMT5A +6 more	Copy number gain	not specified	GUncertain significance
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	LOC129390584, LOC130009080 +45 more	Copy number gain	Autism spectrum disorder	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 2620431	NM_001167856.3(SBNO1):c.392G>A (p.Arg131His)	SBNO1 (R131H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615393	NM_001167856.3(SBNO1):c.584C>T (p.Ser195Phe)	SBNO1 (S194F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610424	NM_001167856.3(SBNO1):c.3202C>A (p.Pro1068Thr)	SBNO1 (P1067T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601322	NM_001167856.3(SBNO1):c.2513A>G (p.Asn838Ser)	SBNO1 (N838S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592066	NM_001167856.3(SBNO1):c.518C>G (p.Ala173Gly)	SBNO1 (A172G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590156	NM_001167856.3(SBNO1):c.1113T>G (p.Ile371Met)	SBNO1 (I370M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2535871	NM_001167856.3(SBNO1):c.1696G>A (p.Val566Ile)	SBNO1 (V566I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533775	NM_001167856.3(SBNO1):c.989C>T (p.Thr330Met)	SBNO1 (T330M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529649	NM_001167856.3(SBNO1):c.1711C>T (p.Arg571Trp)	SBNO1 (R571W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516651	NM_001167856.3(SBNO1):c.3480T>G (p.Asp1160Glu)	SBNO1 (D1159E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512089	NM_001167856.3(SBNO1):c.1836G>C (p.Arg612Ser)	SBNO1 (R611S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487817	NM_001167856.3(SBNO1):c.115A>G (p.Thr39Ala)	SBNO1 (T39A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469824	NM_001167856.3(SBNO1):c.2182A>T (p.Ser728Cys)	SBNO1 (S727C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458784	NM_001167856.3(SBNO1):c.2222A>G (p.Asp741Gly)	SBNO1 (D741G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 2385826	NM_001167856.3(SBNO1):c.467A>T (p.Asp156Val)	SBNO1 (D156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366605	NM_001167856.3(SBNO1):c.2702A>G (p.Asp901Gly)	SBNO1 (D900G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331677	NM_001167856.3(SBNO1):c.1132A>G (p.Lys378Glu)	SBNO1 (K378E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312195	NM_001167856.3(SBNO1):c.710G>T (p.Gly237Val)	SBNO1 (G237V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306099	NM_001167856.3(SBNO1):c.292C>T (p.Pro98Ser)	SBNO1 (P98S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298444	NM_001167856.3(SBNO1):c.656T>C (p.Val219Ala)	SBNO1 (V219A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294598	NM_001167856.3(SBNO1):c.2452T>A (p.Ser818Thr)	SBNO1 (S818T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283068	NM_001167856.3(SBNO1):c.3476G>A (p.Ser1159Asn)	SBNO1 (S1158N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267267	NM_001167856.3(SBNO1):c.1115T>C (p.Leu372Ser)	SBNO1 (L372S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254829	NM_001167856.3(SBNO1):c.1519A>G (p.Ile507Val)	SBNO1 (I506V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247843	NM_001167856.3(SBNO1):c.584C>A (p.Ser195Tyr)	SBNO1 (S194Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230966	NM_001167856.3(SBNO1):c.1229C>G (p.Ser410Cys)	SBNO1 (S410C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218584	NM_001167856.3(SBNO1):c.2699A>G (p.Asn900Ser)	SBNO1 (N899S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340887	GRCh37/hg19 12q24.31(chr12:123807132-124300075)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
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 980994	GRCh37/hg19 12q24.31(chr12:123807132-124299781)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
Select item 782334	NM_001167856.3(SBNO1):c.2476C>T (p.Pro826Ser)	SBNO1 (P825S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782303	NM_001167856.3(SBNO1):c.551-5C>T	SBNO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775320	NM_001167856.3(SBNO1):c.3624A>G (p.Ser1208=)	SBNO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764302	NM_001167856.3(SBNO1):c.3288C>T (p.Leu1096=)	SBNO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738394	NM_001167856.3(SBNO1):c.1311G>A (p.Glu437=)	SBNO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734678	NM_001167856.3(SBNO1):c.551C>T (p.Thr184Ile)	SBNO1 (T184I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723596	NM_001167856.3(SBNO1):c.2126-4G>A	SBNO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722144	NM_001167856.3(SBNO1):c.3934C>T (p.Leu1312=)	SBNO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721010	NM_001167856.3(SBNO1):c.1539-3C>T	SBNO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714017	NM_001167856.3(SBNO1):c.771A>G (p.Pro257=)	SBNO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712184	NM_001167856.3(SBNO1):c.1497A>G (p.Pro499=)	SBNO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709935	NM_001167856.3(SBNO1):c.2321A>G (p.Asn774Ser)	SBNO1 (N773S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 689203	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
Select item 689202	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
Select item 689201	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
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 686311	GRCh37/hg19 12q24.31(chr12:123674527-123803851)x3	CDK2AP1, MPHOSPH9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563927	GRCh37/hg19 12q24.31(chr12:123708136-123981696)x3	SBNO1, SNRNP35 +5 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 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 393745	GRCh37/hg19 12q24.31(chr12:123651149-123944378)x3	CDK2AP1, KMT5A +5 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 226223	GRCh37/hg19 12q24.31(chr12:123596909-123989546)	SBNO1, MTRFR +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 161548	NM_001167856.3(SBNO1):c.132+4A>C	SBNO1	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
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 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 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 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	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 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 80