MLXIP[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	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
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 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	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 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 150419	GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3	B3GNT4, BCL7A +57 more	Copy number gain	See cases	GUncertain significance
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 2267580	NM_014938.6(MLXIP):c.106G>T (p.Asp36Tyr)	LOC130009029, MLXIP (D36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484259	NM_014938.6(MLXIP):c.134G>A (p.Gly45Asp)	LOC130009029, MLXIP (G45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349921	NM_014938.6(MLXIP):c.136G>A (p.Ala46Thr)	LOC130009029, MLXIP (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211288	NM_014938.6(MLXIP):c.178C>T (p.Pro60Ser)	LOC130009029, MLXIP (P60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613875	NM_014938.6(MLXIP):c.236G>A (p.Ser79Asn)	MLXIP (S79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292940	NM_014938.6(MLXIP):c.521A>G (p.Tyr174Cys)	MLXIP (Y174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334305	NM_014938.6(MLXIP):c.718G>C (p.Asp240His)	LOC126861663, MLXIP (D240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528738	NM_014938.6(MLXIP):c.859T>C (p.Ser287Pro)	LOC126861663, MLXIP (S287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265958	NM_014938.6(MLXIP):c.1315C>T (p.Pro439Ser)	MLXIP (P439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337072	NM_014938.6(MLXIP):c.1462G>A (p.Ala488Thr)	MLXIP (A488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326895	NM_014938.6(MLXIP):c.1582G>A (p.Val528Ile)	MLXIP (V528I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211262	NM_014938.6(MLXIP):c.1714A>G (p.Asn572Asp)	MLXIP (N572D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211325	NM_014938.6(MLXIP):c.1858C>T (p.Pro620Ser)	MLXIP (P620S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211360	NM_014938.6(MLXIP):c.1952G>A (p.Ser651Asn)	MLXIP (S651N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480993	NM_014938.6(MLXIP):c.2231G>A (p.Ser744Asn)	MLXIP (S744N)	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 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	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 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 687858	GRCh37/hg19 12q24.31(chr12:122351591-122848069)x1	B3GNT4, BCL7A +8 more	Copy number loss	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 686027	GRCh37/hg19 12q24.31(chr12:122598025-122995374)x3	B3GNT4, CLIP1 +7 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 394726	GRCh37/hg19 12q24.31(chr12:122614468-123019270)x3	CLIP1, DIABLO +8 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

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Items: 41