ClinVar for Gene (Select 23305) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263008	NM_001009185.3(ACSL6):c.419A>G (p.Lys140Arg)	ACSL6 (K105R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262989	NM_001009185.3(ACSL6):c.634C>T (p.Arg212Cys)	ACSL6 (R187C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262980	NM_001009185.3(ACSL6):c.1631A>G (p.Tyr544Cys)	ACSL6 (Y509C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not provided	GUncertain significance
Select item 830550	NC_000005.9:g.(?_130497712)_(131729974_?)del	IL3, LYRM7 +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	CCDC69, CCNH +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

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Links from Gene

Items: 52