ClinVar for Gene (Select 251) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3113209	NM_031313.3(ALPG):c.98G>A (p.Arg33His)	ALPG, LOC126806552 (R33H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113208	NM_031313.3(ALPG):c.97C>T (p.Arg33Cys)	ALPG, LOC126806552 (R33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113207	NM_031313.3(ALPG):c.845C>A (p.Thr282Asn)	ALPG (T282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113206	NM_031313.3(ALPG):c.799T>C (p.Trp267Arg)	ALPG (W267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113205	NM_031313.3(ALPG):c.694C>T (p.Pro232Ser)	ALPG (P232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113202	NM_031313.3(ALPG):c.616G>A (p.Ala206Thr)	ALPG, LOC126806552 (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113196	NM_031313.3(ALPG):c.566C>T (p.Ser189Leu)	ALPG, LOC126806552 (S189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113190	NM_031313.3(ALPG):c.553C>T (p.Arg185Cys)	ALPG, LOC126806552 (R185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113182	NM_031313.3(ALPG):c.524C>T (p.Pro175Leu)	ALPG, LOC126806552 (P175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113177	NM_031313.3(ALPG):c.505C>T (p.Arg169Trp)	ALPG, LOC126806552 (R169W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113171	NM_031313.3(ALPG):c.451G>A (p.Val151Met)	ALPG, LOC126806552 (V151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113166	NM_031313.3(ALPG):c.407G>T (p.Arg136Leu)	ALPG, LOC126806552 (R136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113160	NM_031313.3(ALPG):c.406C>T (p.Arg136Cys)	ALPG, LOC126806552 (R136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113158	NM_031313.3(ALPG):c.403G>A (p.Ala135Thr)	ALPG, LOC126806552 (A135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113150	NM_031313.3(ALPG):c.360C>G (p.Cys120Trp)	ALPG, LOC126806552 (C120W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113148	NM_031313.3(ALPG):c.22C>T (p.Leu8Phe)	ALPG, LOC126806552 (L8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113143	NM_031313.3(ALPG):c.169A>G (p.Ile57Val)	ALPG, LOC126806552 (I57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113141	NM_031313.3(ALPG):c.1525C>T (p.Pro509Ser)	ALPG (P509S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113138	NM_031313.3(ALPG):c.149C>G (p.Thr50Arg)	ALPG, LOC126806552 (T50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113135	NM_031313.3(ALPG):c.1490C>T (p.Pro497Leu)	ALPG (P497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113132	NM_031313.3(ALPG):c.1483C>G (p.Leu495Val)	ALPG (L495V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113130	NM_031313.3(ALPG):c.1477T>C (p.Cys493Arg)	ALPG (C493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113122	NM_031313.3(ALPG):c.1408G>A (p.Gly470Ser)	ALPG (G470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113117	NM_031313.3(ALPG):c.1396C>T (p.His466Tyr)	ALPG (H466Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113116	NM_031313.3(ALPG):c.1288G>A (p.Glu430Lys)	ALPG (E430K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113113	NM_031313.3(ALPG):c.1274G>C (p.Arg425Pro)	ALPG (R425P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113110	NM_031313.3(ALPG):c.1261A>G (p.Lys421Glu)	ALPG (K421E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113108	NM_031313.3(ALPG):c.124G>A (p.Ala42Thr)	ALPG, LOC126806552 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113106	NM_031313.3(ALPG):c.1234T>G (p.Tyr412Asp)	ALPG (Y412D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113105	NM_031313.3(ALPG):c.1216G>A (p.Ala406Thr)	ALPG (A406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113103	NM_031313.3(ALPG):c.1182C>G (p.Phe394Leu)	ALPG (F394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113097	NM_031313.3(ALPG):c.1138G>A (p.Val380Ile)	ALPG (V380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113092	NM_031313.3(ALPG):c.1117G>A (p.Val373Ile)	ALPG (V373I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113086	NM_031313.3(ALPG):c.110A>C (p.Glu37Ala)	ALPG, LOC126806552 (E37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113083	NM_031313.3(ALPG):c.1079C>T (p.Ala360Val)	ALPG (A360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652007	NM_031313.3(ALPG):c.1398C>T (p.His466=)	ALPG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652006	NM_031313.3(ALPG):c.537C>T (p.Tyr179=)	ALPG, LOC126806552	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652005	NM_031313.3(ALPG):c.108C>T (p.Ala36=)	ALPG, LOC126806552	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607878	NM_031313.3(ALPG):c.1525C>G (p.Pro509Ala)	ALPG (P509A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 2542323	NM_031313.3(ALPG):c.532G>A (p.Ala178Thr)	ALPG, LOC126806552 (A178T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540843	NM_031313.3(ALPG):c.577G>A (p.Val193Met)	ALPG, LOC126806552 (V193M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528079	NM_031313.3(ALPG):c.1169G>A (p.Gly390Glu)	ALPG (G390E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512524	NM_031313.3(ALPG):c.480G>C (p.Lys160Asn)	ALPG, LOC126806552 (K160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491176	NM_031313.3(ALPG):c.1266C>G (p.Asp422Glu)	ALPG (D422E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484462	NM_031313.3(ALPG):c.956G>A (p.Ser319Asn)	ALPG (S319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472837	NM_031313.3(ALPG):c.361G>A (p.Gly121Arg)	ALPG, LOC126806552 (G121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466217	NM_031313.3(ALPG):c.154G>A (p.Ala52Thr)	ALPG, LOC126806552 (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462220	NM_031313.3(ALPG):c.538G>A (p.Ala180Thr)	ALPG, LOC126806552 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459895	NM_031313.3(ALPG):c.1412T>A (p.Val471Glu)	ALPG (V471E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456674	NM_031313.3(ALPG):c.620C>T (p.Thr207Met)	ALPG, LOC126806552 (T207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	ACKR3, AGAP1 +94 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1450036	NC_000002.11:g.(?_233164730)_(234250992_?)dup	CHRND, CHRNG +16 more	Duplication	not provided	GUncertain significance
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	ALPG, ALPI +54 more	Duplication	Joubert syndrome 22 +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	KCNJ13, NGEF +97 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 782982	NM_031313.3(ALPG):c.284A>T (p.Tyr95Phe)	ALPG, LOC126806552 (Y95F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781828	NM_031313.3(ALPG):c.516T>C (p.His172=)	ALPG, LOC126806552	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 778048	NM_031313.3(ALPG):c.24C>T (p.Leu8=)	ALPG, LOC126806552	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774600	NM_031313.3(ALPG):c.450C>T (p.Ser150=)	ALPG, LOC126806552	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771848	NM_031313.3(ALPG):c.280C>T (p.Pro94Ser)	ALPG, LOC126806552 (P94S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770699	NM_031313.3(ALPG):c.1493G>C (p.Arg498Pro)	ALPG (R498P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770698	NM_031313.3(ALPG):c.690G>A (p.Gly230=)	ALPG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770697	NM_031313.3(ALPG):c.683C>G (p.Pro228Arg)	ALPG (P228R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717615	NM_031313.3(ALPG):c.1499G>A (p.Gly500Asp)	ALPG (G500D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 712452	NM_031313.3(ALPG):c.153C>T (p.Ala51=)	ALPG, LOC126806552	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711874	NM_031313.3(ALPG):c.1300+10G>A	ALPG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	ACKR3, ACSL3 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 393716	GRCh37/hg19 2q37.1(chr2:233055165-233763272)x3	ALPG, ALPI +13 more	Copy number gain	See cases	GUncertain significance
Select item 226144	GRCh37/hg19 2q37.1(chr2:233181492-233325849)	DIS3L2, ALPG +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 221380	GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1	ALPG, ALPI +6 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +455 more	Copy number loss	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 154539	GRCh38/hg38 2q37.1(chr2:232376206-232542668)x3	ALPG, ALPI +8 more	Copy number gain	See cases	GBenign
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088830, LOC132088831 +576 more	Copy number gain	See cases	GPathogenic
Select item 144230	GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1	ALPG, ALPI +38 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 100