64834[geneid] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2185345	NM_022821.4(ELOVL1):c.787C>T (p.Arg263Cys)	ELOVL1 (R236C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2997588	NM_022821.4(ELOVL1):c.768C>T (p.Thr256=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125482	NM_022821.4(ELOVL1):c.724A>G (p.Ile242Val)	ELOVL1 (I161V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2081656	NM_022821.4(ELOVL1):c.669C>G (p.Ser223=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3088461	NM_022821.4(ELOVL1):c.664A>G (p.Met222Val)	ELOVL1 (M141V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2081405	NM_022821.4(ELOVL1):c.648C>A (p.Ile216=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781304	NM_022821.4(ELOVL1):c.585T>G (p.Leu195=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795132	NM_022821.4(ELOVL1):c.520G>A (p.Val174Met)	ELOVL1 (V93M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093641	NM_022821.4(ELOVL1):c.498C>G (p.Phe166Leu)	ELOVL1 (F166L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 652597	NM_022821.4(ELOVL1):c.494C>T (p.Ser165Phe)	ELOVL1 (S165F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2185306	NM_022821.4(ELOVL1):c.492C>T (p.Gly164=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899560	NM_022821.4(ELOVL1):c.482-20_482-17del	ELOVL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2860651	NM_022821.4(ELOVL1):c.474T>G (p.Ile158Met)	ELOVL1 (I131M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3275218	NM_022821.4(ELOVL1):c.458G>T (p.Trp153Leu)	ELOVL1 (W126L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048379	NM_022821.4(ELOVL1):c.458G>A (p.Trp153Ter)	ELOVL1 (W126* +2 more)	Single nucleotide variant (nonsense)	ELOVL1-related disorder	GUncertain significance
Select item 2335588	NM_022821.4(ELOVL1):c.458G>C (p.Trp153Ser)	ELOVL1 (W153S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2966746	NM_022821.4(ELOVL1):c.399A>G (p.Lys133=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1686880	NM_022821.4(ELOVL1):c.376-2A>G	ELOVL1, MIR6734	Single nucleotide variant (non-coding transcript variant +1 more)	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	GPathogenic
Select item 1621476	NM_022821.4(ELOVL1):c.375+17G>A	ELOVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533916	NM_022821.4(ELOVL1):c.351C>G (p.Ser117=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2074311	NM_022821.4(ELOVL1):c.342C>T (p.Phe114=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2027691	NM_022821.4(ELOVL1):c.335G>C (p.Trp112Ser)	ELOVL1 (W31S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047477	NM_022821.4(ELOVL1):c.326G>A (p.Arg109Gln)	ELOVL1 (R109Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967617	NM_022821.4(ELOVL1):c.325C>T (p.Arg109Trp)	ELOVL1 (R82W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062099	NM_022821.4(ELOVL1):c.302G>A (p.Ser101Asn)	ELOVL1 (S20N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2303830	NM_022821.4(ELOVL1):c.244A>G (p.Met82Val)	ELOVL1 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1926439	NM_022821.4(ELOVL1):c.238-6T>A	ELOVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2461216	NM_022821.4(ELOVL1):c.202T>G (p.Ser68Ala)	ELOVL1 (S68A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2150658	NM_022821.4(ELOVL1):c.166T>C (p.Phe56Leu)	ELOVL1 (F56L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2095158	NM_022821.4(ELOVL1):c.143G>A (p.Arg48His)	ELOVL1 (R48H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2428405	NM_022821.4(ELOVL1):c.142C>T (p.Arg48Cys)	ELOVL1 (R48C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3275217	NM_022821.4(ELOVL1):c.115G>A (p.Val39Met)	ELOVL1 (V39M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1664497	NM_022821.4(ELOVL1):c.105C>T (p.Leu35=)	ELOVL1	Single nucleotide variant (synonymous variant +2 more)	ELOVL1-related disorder +1 more	GBenign/Likely benign
Select item 2713711	NM_022821.4(ELOVL1):c.95C>A (p.Thr32Asn)	ELOVL1 (T32N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2745686	NM_022821.4(ELOVL1):c.85T>G (p.Leu29Val)	ELOVL1 (L29V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2129676	NM_022821.4(ELOVL1):c.72G>C (p.Leu24=)	ELOVL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1922522	NM_022821.4(ELOVL1):c.46+19G>T	ELOVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3049734	NM_022821.4(ELOVL1):c.46+8G>C	ELOVL1	Single nucleotide variant (intron variant)	ELOVL1-related disorder	GLikely benign
Select item 2418427	NM_022821.4(ELOVL1):c.46+8G>A	ELOVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052579	NM_022821.4(ELOVL1):c.46+7C>T	ELOVL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2121189	NM_022821.4(ELOVL1):c.46+5G>A	ELOVL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2168365	NM_022821.4(ELOVL1):c.42C>T (p.His14=)	ELOVL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2040703	NM_022821.4(ELOVL1):c.13G>A (p.Val5Met)	ELOVL1 (V5M)	Single nucleotide variant (missense variant +2 more)	ELOVL1-related disorder +1 more	GBenign
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	TIE1, TMEM125 +20 more	Deletion	not provided	GPathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1070387	NC_000001.10:g.(?_43392692)_(43870241_?)del	C1orf210, CDC20 +10 more	Deletion	not provided	GPathogenic
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 686767	GRCh37/hg19 1p34.2-34.1(chr1:43787578-44221212)x3	CDC20, ELOVL1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 57