ACER3[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 1489208	NM_018367.7(ACER3):c.4G>C (p.Ala2Pro)	ACER3, LOC130006476 (A2P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1478169	NM_018367.7(ACER3):c.10G>A (p.Ala4Thr)	ACER3, LOC130006476 (A4T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2901116	NM_018367.7(ACER3):c.18C>T (p.Asp6=)	ACER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1653177	NM_018367.7(ACER3):c.45C>T (p.Thr15=)	ACER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1644944	NM_018367.7(ACER3):c.45C>G (p.Thr15=)	ACER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784611	NM_018367.7(ACER3):c.51G>A (p.Thr17=)	ACER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1577067	NM_018367.7(ACER3):c.52C>T (p.Leu18=)	ACER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 988663	NM_018367.7(ACER3):c.53T>C (p.Leu18Pro)	ACER3 (L18P)	Single nucleotide variant (missense variant +1 more)	Alkaline ceramidase 3 deficiency	GUncertain significance
Select item 2966557	NM_018367.7(ACER3):c.73T>C (p.Tyr25His)	ACER3 (Y25H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2322569	NM_018367.7(ACER3):c.74A>G (p.Tyr25Cys)	ACER3 (Y25C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 446204	NM_018367.7(ACER3):c.98A>G (p.Glu33Gly)	ACER3 (E33G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3136455	NM_018367.7(ACER3):c.122T>G (p.Leu41Arg)	ACER3 (L41R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1392426	NM_018367.7(ACER3):c.144G>A (p.Met48Ile)	ACER3 (M48I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1594961	NM_018367.7(ACER3):c.147C>T (p.Phe49=)	ACER3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2970610	NM_018367.7(ACER3):c.148G>A (p.Gly50Ser)	ACER3 (G50S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1165287	NM_018367.7(ACER3):c.154G>A (p.Val52Ile)	ACER3 (V52I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1494365	NM_018367.7(ACER3):c.158A>G (p.Gln53Arg)	ACER3 (Q53R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1975821	NM_018367.7(ACER3):c.178G>C (p.Glu60Gln)	ACER3 (E60Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1415208	NM_018367.7(ACER3):c.182A>G (p.Lys61Arg)	ACER3 (K61R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1960764	NM_018367.7(ACER3):c.183_184delinsAT (p.Arg62Trp)	ACER3 (R62W)	Indel (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1164298	NM_018367.7(ACER3):c.183G>A (p.Lys61=)	ACER3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1930977	NM_018367.7(ACER3):c.185G>A (p.Arg62Gln)	ACER3 (R62Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2052246	NM_018367.7(ACER3):c.190A>G (p.Ile64Val)	ACER3 (I64V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1170184	NM_018367.7(ACER3):c.214+19C>G	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1907767	NM_018367.7(ACER3):c.215-16A>C	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994550	NM_018367.7(ACER3):c.217G>T (p.Val73Leu)	ACER3 (V73L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 928842	NM_018367.7(ACER3):c.227G>A (p.Gly76Glu)	ACER3 (G39E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1236177	NM_018367.7(ACER3):c.238T>C (p.Phe80Leu)	ACER3 (F43L +1 more)	Single nucleotide variant (missense variant +1 more)	Alkaline ceramidase 3 deficiency	GUncertain significance
Select item 2140718	NM_018367.7(ACER3):c.268-5T>G	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062800	NM_018367.7(ACER3):c.289A>T (p.Ile97Leu)	ACER3 (I2L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988591	NM_018367.7(ACER3):c.292T>C (p.Tyr98His)	ACER3 (Y3H +2 more)	Single nucleotide variant (missense variant)	Alkaline ceramidase 3 deficiency	GUncertain significance
Select item 1166898	NM_018367.7(ACER3):c.320+14A>C	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2081882	NM_018367.7(ACER3):c.321-4C>G	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1953309	NM_018367.7(ACER3):c.351A>C (p.Val117=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718738	NM_018367.7(ACER3):c.372C>T (p.Thr124=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261632	NM_018367.7(ACER3):c.376G>A (p.Val126Ile)	ACER3 (V89I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3014900	NM_018367.7(ACER3):c.391A>C (p.Ile131Leu)	ACER3 (I131L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862294	NM_018367.7(ACER3):c.394G>C (p.Val132Leu)	ACER3 (V37L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420231	NM_018367.7(ACER3):c.402A>G (p.Thr134=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1164299	NM_018367.7(ACER3):c.426G>A (p.Pro142=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2635451	NM_018367.7(ACER3):c.436C>T (p.Gln146Ter)	ACER3 (Q109* +2 more)	Single nucleotide variant (nonsense)	ACER3-related disorder	GPathogenic
Select item 2958536	NM_018367.7(ACER3):c.438+11G>C	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911486	NM_018367.7(ACER3):c.439-13C>T	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164949	NM_018367.7(ACER3):c.439-12G>A	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2125417	NM_018367.7(ACER3):c.439-6A>G	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1373617	NM_018367.7(ACER3):c.445T>C (p.Tyr149His)	ACER3 (Y112H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944756	NM_018367.7(ACER3):c.466T>C (p.Leu156=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1385167	NM_018367.7(ACER3):c.472C>T (p.Leu158Phe)	ACER3 (L158F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 928843	NM_018367.7(ACER3):c.475C>T (p.Arg159Ter)	ACER3 (R122* +2 more)	Single nucleotide variant (nonsense)	Alkaline ceramidase 3 deficiency	GLikely pathogenic
Select item 2988014	NM_018367.7(ACER3):c.487A>G (p.Ile163Val)	ACER3 (I126V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474391	NM_018367.7(ACER3):c.493A>G (p.Thr165Ala)	ACER3 (T70A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1598981	NM_018367.7(ACER3):c.498-5dup	ACER3	Duplication (intron variant)	not provided	GBenign
Select item 1602804	NM_018367.7(ACER3):c.498-5C>T	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574742	NM_018367.7(ACER3):c.498-5C>A	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086984	NM_018367.7(ACER3):c.499G>A (p.Val167Ile)	ACER3 (V167I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307145	NM_018367.7(ACER3):c.505C>T (p.Pro169Ser)	ACER3 (P132S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107995	NM_018367.7(ACER3):c.530C>T (p.Thr177Ile)	ACER3 (T140I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933016	NM_018367.7(ACER3):c.535T>C (p.Leu179=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592776	NM_018367.7(ACER3):c.541A>G (p.Ile181Val)	ACER3 (I144V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2776980	NM_018367.7(ACER3):c.550T>C (p.Leu184=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896828	NM_018367.7(ACER3):c.552G>A (p.Leu184=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 996745	NM_018367.7(ACER3):c.566G>A (p.Trp189Ter)	ACER3 (W152* +2 more)	Single nucleotide variant (nonsense)	Alkaline ceramidase 3 deficiency	GPathogenic
Select item 1396397	NM_018367.7(ACER3):c.575A>G (p.Asp192Gly)	ACER3 (D192G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030362	NM_018367.7(ACER3):c.587G>A (p.Cys196Tyr)	ACER3 (C101Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032562	NM_018367.7(ACER3):c.599+6A>G	ACER3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2030026	NM_018367.7(ACER3):c.600-10C>G	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 548629	NM_018367.7(ACER3):c.607C>T (p.Arg203Ter)	ACER3 (R203* +2 more)	Single nucleotide variant (nonsense)	Alkaline ceramidase 3 deficiency	GPathogenic
Select item 1512816	NM_018367.7(ACER3):c.616G>A (p.Val206Ile)	ACER3 (V206I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781610	NM_018367.7(ACER3):c.631G>A (p.Gly211Ser)	ACER3 (G116S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500176	NM_018367.7(ACER3):c.631G>T (p.Gly211Cys)	ACER3 (G116C +2 more)	Single nucleotide variant (missense variant)	Alkaline ceramidase 3 deficiency	GPathogenic
Select item 3336618	NM_018367.7(ACER3):c.703A>C (p.Ser235Arg)	ACER3 (S140R +2 more)	Single nucleotide variant (missense variant)	Alkaline ceramidase 3 deficiency	GPathogenic
Select item 2744312	NM_018367.7(ACER3):c.704+7A>G	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276478	NM_018367.7(ACER3):c.705-551G>A	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1514702	NM_018367.7(ACER3):c.745G>A (p.Val249Met)	ACER3 (V154M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759250	NM_018367.7(ACER3):c.750+17G>C	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600341	NM_018367.7(ACER3):c.751-18T>C	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2906682	NM_018367.7(ACER3):c.751-5_751-2del	ACER3	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 1576430	NM_018367.7(ACER3):c.786G>A (p.Glu262=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070015	NM_018367.7(ACER3):c.795G>A (p.Arg265=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914288	NM_018367.7(ACER3):c.801T>C (p.His267=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 88