ClinVar for Gene (Select 283385) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295602	NM_173855.5(MORN3):c.133A>G (p.Asn45Asp)	MORN3 (N45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295601	NM_173855.5(MORN3):c.406A>G (p.Ile136Val)	MORN3 (I136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295600	NM_173855.5(MORN3):c.73G>A (p.Gly25Ser)	MORN3 (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3200479	NM_173855.5(MORN3):c.84C>G (p.Ser28Arg)	MORN3 (S28R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200472	NM_173855.5(MORN3):c.629C>T (p.Thr210Ile)	MORN3 (T210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200470	NM_173855.5(MORN3):c.613G>A (p.Glu205Lys)	MORN3 (E205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200460	NM_173855.5(MORN3):c.607C>T (p.Arg203Cys)	MORN3 (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200455	NM_173855.5(MORN3):c.590C>G (p.Thr197Arg)	MORN3 (T197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200451	NM_173855.5(MORN3):c.502A>G (p.Met168Val)	MORN3 (M168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200446	NM_173855.5(MORN3):c.476G>A (p.Arg159His)	MORN3 (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200436	NM_173855.5(MORN3):c.399C>G (p.Asn133Lys)	MORN3 (N133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200427	NM_173855.5(MORN3):c.235C>G (p.Leu79Val)	MORN3 (L79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200421	NM_173855.5(MORN3):c.140A>G (p.Lys47Arg)	MORN3 (K47R)	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 2623241	NM_173855.5(MORN3):c.414G>C (p.Glu138Asp)	MORN3 (E138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595934	NM_173855.5(MORN3):c.469G>A (p.Gly157Arg)	MORN3 (G157R)	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 2578698	GRCh37/hg19 12q24.31(chr12:121890923-122473333)x1	BCL7A, CFAP251 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 2535696	NM_173855.5(MORN3):c.280T>C (p.Trp94Arg)	MORN3 (W94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514358	NM_173855.5(MORN3):c.19C>T (p.Pro7Ser)	MORN3 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400913	NM_173855.5(MORN3):c.608G>A (p.Arg203His)	MORN3 (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337884	NM_173855.5(MORN3):c.395G>T (p.Ser132Ile)	MORN3 (S132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326862	NM_173855.5(MORN3):c.185A>G (p.Tyr62Cys)	MORN3 (Y62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321397	NM_173855.5(MORN3):c.481G>A (p.Glu161Lys)	MORN3 (E161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283492	NM_173855.5(MORN3):c.715G>A (p.Gly239Arg)	MORN3 (G239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268110	NM_173855.5(MORN3):c.269T>G (p.Val90Gly)	MORN3 (V90G)	Single nucleotide variant (missense variant)	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 776761	NM_173855.5(MORN3):c.464-6C>T	MORN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716377	NM_173855.5(MORN3):c.544C>G (p.Gln182Glu)	MORN3 (Q182E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686313	GRCh37/hg19 12q24.31(chr12:121903358-122234650)x3	KDM2B, MORN3 +3 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 394621	GRCh37/hg19 12q24.31(chr12:121441298-122107345)x3	ANAPC5, C12orf43 +8 more	Copy number gain	See cases	GUncertain significance
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: 52