ClinVar for Gene (Select 54509) - ClinVar

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

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	RHOF, TMEM120B (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)	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
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 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 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +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	HNF1A, HNF1A-AS1 +786 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

Links from Gene

Items: 37