32038[HGNC] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153514	GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3	AADACL3, AADACL4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146143	GRCh38/hg38 1p36.22-36.21(chr1:12293275-13111197)x3	AADACL3, AADACL4 +32 more	Copy number gain	See cases	GBenign
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 2206579	NM_001013630.2(AADACL4):c.61G>T (p.Val21Phe)	AADACL4 (V21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130504	NM_001013630.2(AADACL4):c.176T>C (p.Ile59Thr)	AADACL4 (I59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130543	NM_001013630.2(AADACL4):c.202A>T (p.Met68Leu)	AADACL4 (M68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544367	NM_001013630.2(AADACL4):c.202A>G (p.Met68Val)	AADACL4 (M68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464045	NM_001013630.2(AADACL4):c.232A>T (p.Ser78Cys)	AADACL4 (S78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329483	NM_001013630.2(AADACL4):c.234C>A (p.Ser78Arg)	AADACL4 (S78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305361	NM_001013630.2(AADACL4):c.278G>A (p.Arg93His)	AADACL4 (R93H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488008	NM_001013630.2(AADACL4):c.331C>A (p.Pro111Thr)	AADACL4 (P111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529847	NM_001013630.2(AADACL4):c.341G>C (p.Gly114Ala)	AADACL4 (G114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130664	NM_001013630.2(AADACL4):c.362G>T (p.Gly121Val)	AADACL4 (G121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130690	NM_001013630.2(AADACL4):c.405C>G (p.Cys135Trp)	AADACL4 (C135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130718	NM_001013630.2(AADACL4):c.418C>T (p.Arg140Trp)	AADACL4 (R140W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130752	NM_001013630.2(AADACL4):c.443T>C (p.Met148Thr)	AADACL4 (M148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130784	NM_001013630.2(AADACL4):c.472C>A (p.His158Asn)	AADACL4 (H158N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130809	NM_001013630.2(AADACL4):c.473A>T (p.His158Leu)	AADACL4 (H158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460196	NM_001013630.2(AADACL4):c.511A>G (p.Ile171Val)	AADACL4 (I171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638256	NM_001013630.2(AADACL4):c.514C>G (p.His172Asp)	AADACL4 (H172D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2456032	NM_001013630.2(AADACL4):c.527C>A (p.Ala176Asp)	AADACL4 (A176D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130913	NM_001013630.2(AADACL4):c.539A>G (p.Tyr180Cys)	AADACL4 (Y180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482780	NM_001013630.2(AADACL4):c.556A>G (p.Arg186Gly)	AADACL4 (R186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465425	NM_001013630.2(AADACL4):c.560T>C (p.Val187Ala)	AADACL4 (V187A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131004	NM_001013630.2(AADACL4):c.580G>A (p.Val194Ile)	AADACL4 (V194I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347316	NM_001013630.2(AADACL4):c.593C>T (p.Ala198Val)	AADACL4 (A198V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2638257	NM_001013630.2(AADACL4):c.594G>A (p.Ala198=)	AADACL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260881	NM_001013630.2(AADACL4):c.623G>A (p.Gly208Asp)	AADACL4 (G208D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261650	NM_001013630.2(AADACL4):c.628T>C (p.Ser210Pro)	AADACL4 (S210P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638258	NM_001013630.2(AADACL4):c.647G>A (p.Arg216Gln)	AADACL4 (R216Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3328800	NM_001013630.2(AADACL4):c.677A>G (p.Gln226Arg)	AADACL4 (Q226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618736	NM_001013630.2(AADACL4):c.736C>T (p.Arg246Trp)	AADACL4 (R246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131166	NM_001013630.2(AADACL4):c.790C>T (p.Arg264Cys)	AADACL4 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310717	NM_001013630.2(AADACL4):c.808G>A (p.Gly270Ser)	AADACL4 (G270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131260	NM_001013630.2(AADACL4):c.844G>A (p.Glu282Lys)	AADACL4 (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238298	NM_001013630.2(AADACL4):c.871C>A (p.Pro291Thr)	AADACL4 (P291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327928	NM_001013630.2(AADACL4):c.973C>T (p.Pro325Ser)	AADACL4 (P325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222037	NM_001013630.2(AADACL4):c.1037A>G (p.Asn346Ser)	AADACL4 (N346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516677	NM_001013630.2(AADACL4):c.1075C>A (p.Arg359Ser)	AADACL4 (R359S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130412	NM_001013630.2(AADACL4):c.1097G>A (p.Arg366His)	AADACL4 (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327033	NM_001013630.2(AADACL4):c.1132G>A (p.Gly378Arg)	AADACL4 (G378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130442	NM_001013630.2(AADACL4):c.1144T>C (p.Phe382Leu)	AADACL4 (F382L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213184	NM_001013630.2(AADACL4):c.1159G>C (p.Ala387Pro)	AADACL4 (A387P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147067	GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3	AADACL3, AADACL4 +21 more	Copy number gain	See cases	GBenign
Select item 3130487	NM_001013630.2(AADACL4):c.1219A>T (p.Ile407Leu)	AADACL4 (I407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1527392	GRCh37/hg19 1p36.22-36.21(chr1:12431850-12717562)	AADACL4, DHRS3 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980396	GRCh37/hg19 1p36.22-36.21(chr1:12690931-12910728)x4	HNRNPCL1, PRAMEF11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 638125	GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3	AADACL3, AADACL4 +14 more	Copy number gain	See cases	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625539	GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	AADACL3, AADACL4 +21 more	Copy number loss	not provided	GPathogenic
Select item 599310	Single allele	AADACL3, AADACL4 +11 more	Deletion	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 441828	GRCh37/hg19 1p36.22-36.21(chr1:12326304-12841900)x3	AADACL3, AADACL4 +4 more	Copy number gain	See cases	GLikely benign
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 395059	GRCh37/hg19 1p36.22-36.21(chr1:12357424-13187457)x3	AADACL3, AADACL4 +14 more	Copy number gain	See cases	GLikely benign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 89