MGLL[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 3039230	NM_007283.7(MGLL):c.919G>A (p.Ala307Thr)	MGLL (A267T +6 more)	Single nucleotide variant (missense variant)	MGLL-related disorder	GLikely benign
Select item 2557726	NM_007283.7(MGLL):c.913G>A (p.Ala305Thr)	MGLL (A331T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043265	NM_007283.7(MGLL):c.873C>T (p.Ser291=)	MGLL	Single nucleotide variant (synonymous variant)	MGLL-related disorder	GLikely benign
Select item 2313763	NM_007283.7(MGLL):c.804C>G (p.Asp268Glu)	MGLL (D232E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264626	NM_007283.7(MGLL):c.756T>G (p.Cys252Trp)	MGLL (C242W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056921	NM_007283.7(MGLL):c.753A>G (p.Leu251=)	MGLL	Single nucleotide variant (synonymous variant)	MGLL-related disorder	GBenign
Select item 2514220	NM_007283.7(MGLL):c.748C>T (p.Arg250Cys)	MGLL (R214C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125966	NM_007283.7(MGLL):c.697G>A (p.Ala233Thr)	MGLL (A197T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528915	NM_007283.7(MGLL):c.692A>C (p.Glu231Ala)	MGLL (E195A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125965	NM_007283.7(MGLL):c.679G>A (p.Val227Ile)	MGLL (V187I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042845	NM_007283.7(MGLL):c.658G>A (p.Gly220Ser)	MGLL (G180S +6 more)	Single nucleotide variant (missense variant)	MGLL-related disorder	GLikely benign
Select item 2480379	NM_007283.7(MGLL):c.604G>A (p.Asp202Asn)	MGLL (D166N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125964	NM_007283.7(MGLL):c.456G>A (p.Met152Ile)	MGLL (M116I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767929	NM_007283.7(MGLL):c.438G>A (p.Pro146=)	MGLL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2672954	NM_007283.7(MGLL):c.412G>A (p.Ala138Thr)	MGLL (A102T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2470601	NM_007283.7(MGLL):c.382C>T (p.Leu128Phe)	MGLL (L118F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035437	NM_007283.7(MGLL):c.319G>A (p.Val107Ile)	MGLL (V107I +2 more)	Single nucleotide variant (missense variant)	MGLL-related disorder	GLikely benign
Select item 3040469	NM_007283.7(MGLL):c.255C>T (p.His85=)	MGLL	Single nucleotide variant (synonymous variant +1 more)	MGLL-related disorder	GBenign
Select item 3294632	NM_007283.7(MGLL):c.242T>A (p.Leu81Gln)	MGLL (L71Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125963	NM_007283.7(MGLL):c.210G>C (p.Glu70Asp)	MGLL (E60D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767930	NM_007283.7(MGLL):c.192C>T (p.His64=)	MGLL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 549586	NC_000003.12:g.127814446_127916946dup	KBTBD12, LOC126806805 +3 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 152304	GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3	EEFSEC, KBTBD12 +32 more	Copy number gain	See cases	GUncertain significance
Select item 3035490	NM_007283.7(MGLL):c.155+7C>G	MGLL	Single nucleotide variant (intron variant)	MGLL-related disorder	GLikely benign
Select item 2405464	NM_007283.7(MGLL):c.124T>G (p.Cys42Gly)	MGLL (C42G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519224	NM_007283.7(MGLL):c.62C>T (p.Pro21Leu)	MGLL (P21L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397277	NM_007283.7(MGLL):c.59C>T (p.Thr20Ile)	MGLL (T20I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672955	NM_007283.7(MGLL):c.47C>T (p.Ser16Phe)	MGLL (S16F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2425851	NC_000003.11:g.(?_126707437)_(127783900_?)del	ABTB1, KBTBD12 +7 more	Deletion	not provided	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807856	GRCh37/hg19 3q21.3(chr3:127540292-128170755)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527041	GRCh37/hg19 3q21.3(chr3:127530506-128170426)	EEFSEC, KBTBD12 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 689158	GRCh37/hg19 3q21.3(chr3:127538025-128174439)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395357	GRCh37/hg19 3q21.3(chr3:127521474-128075630)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 47