ARL6IP4[gene] - ClinVar

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

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 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 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 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 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	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 152933	GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	ABCB9, ARL6IP4 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3129571	NM_018694.2(ARL6IP4):c.41G>A	ARL6IP4 (R75H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129572	NM_018694.2(ARL6IP4):c.58C>T	ARL6IP4 (P81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496299	NM_018694.2(ARL6IP4):c.80T>C	ARL6IP4 (V88A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250212	NM_018694.2(ARL6IP4):c.103G>T	ARL6IP4 (A96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299082	NM_018694.2(ARL6IP4):c.136A>G	ARL6IP4 (T107A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279330	NM_018694.2(ARL6IP4):c.164G>A	ARL6IP4 (G116E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315216	NM_018694.2(ARL6IP4):c.167C>G	ARL6IP4 (P117R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210187	NM_018694.2(ARL6IP4):c.205C>G	ARL6IP4 (R130G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275362	NM_018694.2(ARL6IP4):c.260G>A	ARL6IP4 (R148Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596536	NM_018694.2(ARL6IP4):c.287C>T	ARL6IP4 (P157L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361728	NM_018694.4(ARL6IP4):c.-75T>G	ARL6IP4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2373161	NM_018694.4(ARL6IP4):c.-39G>C	ARL6IP4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2348593	NM_018694.4(ARL6IP4):c.-39G>A	ARL6IP4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3129568	NM_018694.4(ARL6IP4):c.-35T>C	ARL6IP4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3129569	NM_018694.4(ARL6IP4):c.-20G>A	ARL6IP4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2522498	NM_018694.4(ARL6IP4):c.-3G>A	ARL6IP4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3315257	NM_018694.4(ARL6IP4):c.56G>A (p.Arg19Gln)	ARL6IP4 (R19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341354	NM_018694.4(ARL6IP4):c.65A>T (p.Glu22Val)	ARL6IP4 (E22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228822	NM_018694.4(ARL6IP4):c.65A>C (p.Glu22Ala)	ARL6IP4 (E22A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284913	NM_018694.4(ARL6IP4):c.91G>A (p.Asp31Asn)	ARL6IP4 (D31N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385741	NM_018694.4(ARL6IP4):c.148C>T (p.Pro50Ser)	ARL6IP4 (P50S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2357567	NM_018694.4(ARL6IP4):c.202G>A (p.Ala68Thr)	ARL6IP4 (A49T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129573	NM_018694.4(ARL6IP4):c.263C>T (p.Ser88Phe)	ARL6IP4 (S77F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468049	NM_018694.4(ARL6IP4):c.269C>T (p.Ser90Phe)	ARL6IP4 (S90F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589113	NM_018694.4(ARL6IP4):c.275C>T (p.Ser92Phe)	ARL6IP4 (S84F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365265	NM_018694.4(ARL6IP4):c.301C>T (p.Arg101Trp)	ARL6IP4 (R101W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315236	NM_018694.4(ARL6IP4):c.361C>A (p.Leu121Met)	ARL6IP4 (L102M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527720	NM_018694.4(ARL6IP4):c.384G>C (p.Lys128Asn)	ARL6IP4 (K117N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546142	NM_018694.4(ARL6IP4):c.425T>C (p.Leu142Pro)	ARL6IP4 (L134P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129575	NM_018694.4(ARL6IP4):c.439C>G (p.Arg147Gly)	ARL6IP4 (R139G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212916	NM_018694.4(ARL6IP4):c.478G>T (p.Asp160Tyr)	ARL6IP4 (D152Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315247	NM_018694.4(ARL6IP4):c.501G>C (p.Gln167His)	ARL6IP4 (Q159H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315227	NM_018694.4(ARL6IP4):c.515T>C (p.Met172Thr)	ARL6IP4 (M161T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129576	NM_018694.4(ARL6IP4):c.538C>T (p.Arg180Trp)	ARL6IP4 (R172W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365832	NM_018694.4(ARL6IP4):c.539G>A (p.Arg180Gln)	ARL6IP4 (R172Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321864	NM_018694.4(ARL6IP4):c.553C>T (p.Arg185Cys)	ARL6IP4 (R118C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468825	NM_018694.4(ARL6IP4):c.625G>A (p.Val209Ile)	ARL6IP4 (V142I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129577	NM_018694.4(ARL6IP4):c.629C>T (p.Thr210Ile)	ARL6IP4 (T199I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296198	NM_018694.4(ARL6IP4):c.637C>G (p.Arg213Gly)	ARL6IP4 (R205G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396767	NM_018694.4(ARL6IP4):c.642C>G (p.His214Gln)	ARL6IP4 (H147Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129566	NM_018694.4(ARL6IP4):c.648G>C (p.Glu216Asp)	ARL6IP4 (E168D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284687	NM_018694.4(ARL6IP4):c.649A>C (p.Ile217Leu)	ARL6IP4 (I169L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129567	NM_018694.4(ARL6IP4):c.683C>G (p.Ala228Gly)	ARL6IP4 (A169G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	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 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	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 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
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 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 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

Search results

Items: 63