ADGRL4[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 152108	GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1	ADGRL4, DNAJB4 +33 more	Copy number loss	See cases	GUncertain significance
Select item 144500	GRCh38/hg38 1p31.1(chr1:78680456-81327787)x3	ADGRL2, ADGRL4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 144247	GRCh38/hg38 1p31.1(chr1:78680456-79387797)x1	ADGRL4, LOC110121238 +3 more	Copy number loss	See cases	GUncertain significance
Select item 155406	GRCh38/hg38 1p31.1(chr1:78731929-79011132)x1	ADGRL4	Copy number loss	See cases	GUncertain significance
Select item 2624165	NM_022159.4(ADGRL4):c.2042A>G (p.Asn681Ser)	ADGRL4 (N681S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300370	NM_022159.4(ADGRL4):c.2000T>C (p.Leu667Ser)	ADGRL4 (L667S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276987	NM_022159.4(ADGRL4):c.1986A>T (p.Leu662Phe)	ADGRL4 (L662F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238957	NM_022159.4(ADGRL4):c.1823G>A (p.Ser608Asn)	ADGRL4 (S608N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365881	NM_022159.4(ADGRL4):c.1813C>T (p.Pro605Ser)	ADGRL4 (P605S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377861	NM_022159.4(ADGRL4):c.1807T>A (p.Leu603Met)	ADGRL4 (L603M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312005	NM_022159.4(ADGRL4):c.1681G>A (p.Val561Ile)	ADGRL4 (V561I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459885	NM_022159.4(ADGRL4):c.1643C>T (p.Ser548Leu)	ADGRL4 (S548L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336811	NM_022159.4(ADGRL4):c.1637G>A (p.Gly546Glu)	ADGRL4 (G546E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539947	NM_022159.4(ADGRL4):c.1633G>A (p.Val545Ile)	ADGRL4 (V545I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330410	NM_022159.4(ADGRL4):c.1537A>G (p.Ile513Val)	ADGRL4 (I513V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334076	NM_022159.4(ADGRL4):c.1429T>C (p.Phe477Leu)	ADGRL4 (F477L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317694	NM_022159.4(ADGRL4):c.1271A>G (p.Tyr424Cys)	ADGRL4 (Y424C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404241	NM_022159.4(ADGRL4):c.887C>T (p.Ala296Val)	ADGRL4 (A296V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399836	NM_022159.4(ADGRL4):c.883G>T (p.Val295Phe)	ADGRL4 (V295F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523623	NM_022159.4(ADGRL4):c.841A>G (p.Ile281Val)	ADGRL4 (I281V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787750	NM_022159.4(ADGRL4):c.840T>C (p.Asn280=)	ADGRL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2392264	NM_022159.4(ADGRL4):c.752C>T (p.Thr251Met)	ADGRL4 (T251M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277425	NM_022159.4(ADGRL4):c.445A>G (p.Asn149Asp)	ADGRL4 (N149D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205414	NM_022159.4(ADGRL4):c.391A>G (p.Thr131Ala)	ADGRL4 (T131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588982	NM_022159.4(ADGRL4):c.361T>A (p.Cys121Ser)	ADGRL4 (C121S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638897	NM_022159.4(ADGRL4):c.345C>T (p.Cys115=)	ADGRL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536606	NM_022159.4(ADGRL4):c.307G>A (p.Asp103Asn)	ADGRL4 (D103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530838	NM_022159.4(ADGRL4):c.216T>A (p.Asn72Lys)	ADGRL4 (N72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482731	NM_022159.4(ADGRL4):c.185G>A (p.Cys62Tyr)	ADGRL4 (C62Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516093	NM_022159.4(ADGRL4):c.139G>A (p.Gly47Arg)	ADGRL4 (G47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391010	NM_022159.4(ADGRL4):c.103A>C (p.Ile35Leu)	ADGRL4 (I35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ADGRL4, AK5 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685808	GRCh37/hg19 1p31.1(chr1:78421460-79541287)x3	ADGRL4, DNAJB4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527126	GRCh37/hg19 1p31.1(chr1:79195933-79476635)	ADGRL4	Copy number loss	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 686509	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686133	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443572	GRCh37/hg19 1p31.1(chr1:79198492-79484776)x1	ADGRL4	Copy number loss	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	LHX8, MIGA1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 49