ClinVar for Gene (Select 54509) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ZCCHC8, ANAPC5 +24 more	Deletion	not provided	GPathogenic
Select item 3244335	NC_000012.11:g.(?_122064648)_(122287716_?)del	HPD, MORN3 +4 more	Deletion	Combined immunodeficiency due to ORAI1 deficiency +1 more	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3154082	NM_019034.3(RHOF):c.583G>A (p.Ala195Thr)	RHOF, TMEM120B (A195T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3154080	NM_019034.3(RHOF):c.365G>A (p.Arg122His)	TMEM120B, RHOF (R122H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3154079	NM_019034.3(RHOF):c.245G>A (p.Arg82Gln)	RHOF, TMEM120B (R82Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3154078	NM_019034.3(RHOF):c.185T>C (p.Val62Ala)	RHOF, SETD1B (V62A)	Single nucleotide variant (missense variant)	not specified	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 2643414	NM_019034.3(RHOF):c.372C>A (p.Ile124=)	RHOF, TMEM120B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2578698	GRCh37/hg19 12q24.31(chr12:121890923-122473333)x1	BCL7A, CFAP251 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 2455213	NM_019034.3(RHOF):c.106C>T (p.Leu36Phe)	RHOF, SETD1B (L36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366432	NM_019034.3(RHOF):c.601C>T (p.Arg201Trp)	RHOF, TMEM120B (R201W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2328803	NM_019034.3(RHOF):c.198G>T (p.Glu66Asp)	RHOF, SETD1B (E66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267262	NM_019034.3(RHOF):c.487G>A (p.Glu163Lys)	RHOF, TMEM120B (E163K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263462	NM_019034.3(RHOF):c.458T>C (p.Ile153Thr)	RHOF, TMEM120B (I153T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2244252	NM_019034.3(RHOF):c.203C>T (p.Thr68Ile)	RHOF, SETD1B (T68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242021	NM_019034.3(RHOF):c.437G>A (p.Arg146Gln)	RHOF, TMEM120B (R146Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1527743	GRCh37/hg19 12q24.31(chr12:121882818-122666131)	BCL7A, CFAP251 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1340538	GRCh37/hg19 12q24.31(chr12:121970346-122287290)x1	HPD, KDM2B +5 more	Copy number loss	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 1328462	GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	B3GNT4, BCL7A +25 more	Copy number gain	not provided	GUncertain significance
Select item 815562	GRCh37/hg19 12q24.31(chr12:121899406-122234599)x3	KDM2B, MORN3 +3 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 686313	GRCh37/hg19 12q24.31(chr12:121903358-122234650)x3	KDM2B, MORN3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563905	GRCh37/hg19 12q24.31(chr12:122143405-122253332)x1	SETD1B, RHOF +1 more	Copy number loss	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
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 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	ACAD10, ACADS +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	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	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

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Links from Gene

Items: 40