ClinVar for Gene (Select 23305) - ClinVar

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

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3140165	NM_001009185.3(ACSL6):c.799G>T (p.Gly267Trp)	ACSL6 (G232W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140164	NM_001009185.3(ACSL6):c.589A>G (p.Met197Val)	ACSL6 (M162V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140161	NM_001009185.3(ACSL6):c.525T>G (p.Ile175Met)	ACSL6 (I150M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140158	NM_001009185.3(ACSL6):c.511A>T (p.Thr171Ser)	ACSL6 (T136S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140145	NM_001009185.3(ACSL6):c.1793T>C (p.Ile598Thr)	ACSL6 (I498T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140142	NM_001009185.3(ACSL6):c.168G>C (p.Val56=)	ACSL6	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3140135	NM_001009185.3(ACSL6):c.1325T>G (p.Phe442Cys)	ACSL6 (F430C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140132	NM_001009185.3(ACSL6):c.1285G>C (p.Gly429Arg)	ACSL6 (G404R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140124	NM_001009185.3(ACSL6):c.1250T>C (p.Phe417Ser)	ACSL6 (F317S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140121	NM_001009185.3(ACSL6):c.1235G>T (p.Arg412Leu)	ACSL6 (R398L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059647	NM_001009185.3(ACSL6):c.865-8C>G	ACSL6	Single nucleotide variant (intron variant)	ACSL6-related disorder	GBenign
Select item 3054397	NM_001009185.3(ACSL6):c.1951A>G (p.Thr651Ala)	ACSL6 (T551A +9 more)	Single nucleotide variant (missense variant +1 more)	ACSL6-related disorder	GLikely benign
Select item 3052080	NM_001009185.3(ACSL6):c.51G>A (p.Glu17=)	ACSL6	Single nucleotide variant (synonymous variant +2 more)	ACSL6-related disorder	GLikely benign
Select item 3050281	NM_001009185.3(ACSL6):c.1234C>T (p.Arg412Cys)	ACSL6 (R312C +8 more)	Single nucleotide variant (missense variant +1 more)	ACSL6-related disorder	GLikely benign
Select item 3040468	NM_001009185.3(ACSL6):c.9C>T (p.Thr3=)	ACSL6	Single nucleotide variant (synonymous variant +3 more)	ACSL6-related disorder	GLikely benign
Select item 3039632	NM_001009185.3(ACSL6):c.1698C>T (p.Ile566=)	ACSL6	Single nucleotide variant (synonymous variant +1 more)	ACSL6-related disorder	GBenign
Select item 3038461	NM_001009185.3(ACSL6):c.451G>A (p.Val151Met)	ACSL6 (V116M +6 more)	Single nucleotide variant (missense variant +1 more)	ACSL6-related disorder	GLikely benign
Select item 3035062	NM_001009185.3(ACSL6):c.456C>T (p.Ala152=)	ACSL6	Single nucleotide variant (synonymous variant +1 more)	ACSL6-related disorder	GLikely benign
Select item 2598434	NM_001009185.3(ACSL6):c.1094G>A (p.Arg365His)	ACSL6 (R363H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556914	NM_001009185.3(ACSL6):c.1968G>C (p.Lys656Asn)	ACSL6 (K596N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544518	NM_001009185.3(ACSL6):c.142C>T (p.Arg48Cys)	ACSL6 (R48C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2407932	NM_001009185.3(ACSL6):c.1393C>T (p.Pro465Ser)	ACSL6 (P405S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390537	NM_001009185.3(ACSL6):c.365G>A (p.Arg122His)	ACSL6 (R122H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334966	NM_001009185.3(ACSL6):c.233C>T (p.Pro78Leu)	ACSL6 (P64L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226852	NM_001009185.3(ACSL6):c.952G>A (p.Val318Met)	ACSL6 (V293M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219070	NM_001009185.3(ACSL6):c.826G>A (p.Val276Met)	ACSL6 (V241M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210045	NM_001009185.3(ACSL6):c.1280G>A (p.Arg427Gln)	ACSL6 (R402Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049234	NM_001009185.3(ACSL6):c.1652C>T (p.Thr551Met)	ACSL6 (T451M +4 more)	Single nucleotide variant (missense variant)	ACSL6-related disorder	GLikely benign
Select item 830550	NC_000005.9:g.(?_130497712)_(131729974_?)del	ACSL6, CDC42SE2 +10 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 768031	NM_001009185.3(ACSL6):c.234G>A (p.Pro78=)	ACSL6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716862	NM_001009185.3(ACSL6):c.991-9C>G	ACSL6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685993	GRCh37/hg19 5q31.1(chr5:131107107-131528744)x3	ACSL6, CSF2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 545310	NC_000005.10:g.(?_131428263)_(132208822_?)del	ACSL6, ACSL6-AS1 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 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: 49