ClinVar for Gene (Select 55331) - ClinVar

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

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2958536	NM_018367.7(ACER3):c.438+11G>C	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906682	NM_018367.7(ACER3):c.751-5_751-2del	ACER3	Deletion (splice acceptor variant)	not provided	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 2896828	NM_018367.7(ACER3):c.552G>A (p.Leu184=)	ACER3	Single nucleotide variant (synonymous 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 2784611	NM_018367.7(ACER3):c.51G>A (p.Thr17=)	ACER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2776980	NM_018367.7(ACER3):c.550T>C (p.Leu184=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759250	NM_018367.7(ACER3):c.750+17G>C	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744312	NM_018367.7(ACER3):c.704+7A>G	ACER3	Single nucleotide variant (intron 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 2635451	NM_018367.7(ACER3):c.436C>T (p.Gln146Ter)	ACER3 (Q109* +2 more)	Single nucleotide variant (nonsense)	ACER3-related disorder	GPathogenic
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 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 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 2140718	NM_018367.7(ACER3):c.268-5T>G	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125417	NM_018367.7(ACER3):c.439-6A>G	ACER3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2081882	NM_018367.7(ACER3):c.321-4C>G	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2070015	NM_018367.7(ACER3):c.795G>A (p.Arg265=)	ACER3	Single nucleotide variant (synonymous 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 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 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 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 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 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 1953309	NM_018367.7(ACER3):c.351A>C (p.Val117=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944756	NM_018367.7(ACER3):c.466T>C (p.Leu156=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933016	NM_018367.7(ACER3):c.535T>C (p.Leu179=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1914288	NM_018367.7(ACER3):c.801T>C (p.His267=)	ACER3	Single nucleotide variant (synonymous 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 1907767	NM_018367.7(ACER3):c.215-16A>C	ACER3	Single nucleotide variant (intron 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 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 1602804	NM_018367.7(ACER3):c.498-5C>T	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 1598981	NM_018367.7(ACER3):c.498-5dup	ACER3	Duplication (intron variant)	not provided	GBenign
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 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 1577067	NM_018367.7(ACER3):c.52C>T (p.Leu18=)	ACER3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1576430	NM_018367.7(ACER3):c.786G>A (p.Glu262=)	ACER3	Single nucleotide variant (synonymous 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 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 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 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 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 1420231	NM_018367.7(ACER3):c.402A>G (p.Thr134=)	ACER3	Single nucleotide variant (synonymous variant)	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 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 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 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 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 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 1276478	NM_018367.7(ACER3):c.705-551G>A	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1170184	NM_018367.7(ACER3):c.214+19C>G	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166898	NM_018367.7(ACER3):c.320+14A>C	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1164949	NM_018367.7(ACER3):c.439-12G>A	ACER3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164299	NM_018367.7(ACER3):c.426G>A (p.Pro142=)	ACER3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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 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 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 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 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 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
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 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 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
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 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	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: 88