GADL1[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148330	GRCh38/hg38 3p24.1(chr3:30638613-30754170)x3	GADL1, TGFBR2	Copy number gain	See cases	GUncertain significance
Select item 3097918	NM_207359.3(GADL1):c.1510C>T (p.Arg504Trp)	GADL1 (R504W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543628	NM_207359.3(GADL1):c.1486G>C (p.Val496Leu)	GADL1 (V496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097917	NM_207359.3(GADL1):c.1472A>G (p.Asn491Ser)	GADL1 (N491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227190	NM_207359.3(GADL1):c.1460G>A (p.Arg487Gln)	GADL1 (R487Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313389	NM_207359.3(GADL1):c.1438A>T (p.Met480Leu)	GADL1 (M480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097916	NM_207359.3(GADL1):c.1400C>T (p.Pro467Leu)	GADL1 (P467L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311974	NM_207359.3(GADL1):c.1354A>G (p.Met452Val)	GADL1 (M452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256976	NM_207359.3(GADL1):c.1299G>A (p.Met433Ile)	GADL1 (M433I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493312	NM_207359.3(GADL1):c.1193A>G (p.Lys398Arg)	GADL1 (K398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454244	NM_207359.3(GADL1):c.1189T>G (p.Trp397Gly)	GADL1 (W397G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395712	NM_207359.3(GADL1):c.1171T>C (p.Phe391Leu)	GADL1 (F391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264493	NM_207359.3(GADL1):c.1137C>G (p.Asp379Glu)	GADL1 (D379E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342547	NM_207359.3(GADL1):c.1073C>G (p.Ser358Cys)	GADL1 (S358C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221079	NM_207359.3(GADL1):c.987G>C (p.Trp329Cys)	GADL1 (W329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525692	NM_207359.3(GADL1):c.932C>T (p.Ser311Leu)	GADL1 (S311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331150	NM_207359.3(GADL1):c.930G>A (p.Met310Ile)	GADL1 (M310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393706	NM_207359.3(GADL1):c.892C>T (p.Leu298Phe)	GADL1 (L298F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596373	NM_207359.3(GADL1):c.851T>C (p.Leu284Pro)	GADL1 (L284P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623530	NM_207359.3(GADL1):c.805G>T (p.Val269Phe)	GADL1 (V269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591996	NM_207359.3(GADL1):c.797C>T (p.Pro266Leu)	GADL1 (P266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097927	NM_207359.3(GADL1):c.764A>G (p.Gln255Arg)	GADL1 (Q255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466762	NM_207359.3(GADL1):c.725A>T (p.Asp242Val)	GADL1 (D242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097926	NM_207359.3(GADL1):c.511G>A (p.Glu171Lys)	GADL1 (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097925	NM_207359.3(GADL1):c.464T>C (p.Val155Ala)	GADL1 (V155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524735	NM_207359.3(GADL1):c.445T>C (p.Ser149Pro)	GADL1 (S149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455634	NM_207359.3(GADL1):c.421C>A (p.Pro141Thr)	GADL1 (P141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097923	NM_207359.3(GADL1):c.404T>C (p.Met135Thr)	GADL1 (M135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097922	NM_207359.3(GADL1):c.394G>T (p.Ala132Ser)	GADL1 (A132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569507	NM_207359.3(GADL1):c.340C>T (p.His114Tyr)	GADL1 (H114Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491841	NM_207359.3(GADL1):c.331A>G (p.Lys111Glu)	GADL1 (K111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513894	NM_207359.3(GADL1):c.307C>T (p.Arg103Trp)	GADL1 (R103W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097919	NM_207359.3(GADL1):c.277G>A (p.Glu93Lys)	GADL1 (E93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401359	NM_207359.3(GADL1):c.164T>C (p.Leu55Pro)	GADL1 (L55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411158	NM_207359.3(GADL1):c.47A>G (p.Asp16Gly)	GADL1 (D16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549589	NC_000003.12:g.30872874_31319912dup	GADL1, LOC126806641 +5 more	Duplication	Primary amenorrhea	GLikely benign
Select item 3097921	NM_207359.3(GADL1):c.34G>A (p.Asp12Asn)	GADL1 (D12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097920	NM_207359.3(GADL1):c.31G>C (p.Val11Leu)	GADL1 (V11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477237	NM_207359.3(GADL1):c.9C>G (p.Ser3Arg)	GADL1 (S3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062695	GRCh37/hg19 3p24.1(chr3:30744579-30828871)x1	GADL1	Copy number loss	not specified	GUncertain significance
Select item 2685912	GRCh37/hg19 3p24.1-23(chr3:30647406-31111204)x3	GADL1, TGFBR2	Copy number gain	not provided	GUncertain significance
Select item 2685911	GRCh37/hg19 3p24.1(chr3:30515403-30782033)x3	GADL1, TGFBR2	Copy number gain	not provided	GUncertain significance
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 984746	GRCh37/hg19 3p24.1-23(chr3:30863773-31433693)x1	GADL1	Copy number loss	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 980518	GRCh37/hg19 3p24.1(chr3:30502424-30786769)x3	GADL1, TGFBR2	Copy number gain	not provided	GUncertain significance
Select item 685564	GRCh37/hg19 3p24.1-23(chr3:30697280-31312759)x3	GADL1, TGFBR2	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 58