ALPI[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 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 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	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 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 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 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 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 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +455 more	Copy number loss	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
Select item 144230	GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1	ALPG, ALPI +38 more	Copy number loss	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 221380	GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1	ALPG, ALPI +6 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 3042489	NM_001631.5(ALPI):c.-7C>G	ALPI	Single nucleotide variant (5 prime UTR variant)	ALPI-related condition	GLikely benign
Select item 3038419	NM_001631.5(ALPI):c.58G>A (p.Val20Ile)	ALPI (V20I)	Single nucleotide variant (missense variant)	ALPI-related condition	GBenign
Select item 3037342	NM_001631.5(ALPI):c.98G>T (p.Arg33Leu)	ALPI (R33L)	Single nucleotide variant (missense variant)	ALPI-related condition	GBenign
Select item 2550080	NM_001631.5(ALPI):c.133C>A (p.Leu45Met)	ALPI (L45M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342839	NM_001631.5(ALPI):c.200C>T (p.Thr67Met)	ALPI (T67M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053635	NM_001631.5(ALPI):c.274C>T (p.Arg92Cys)	ALPI (R92C)	Single nucleotide variant (missense variant)	ALPI-related condition	GBenign
Select item 2313864	NM_001631.5(ALPI):c.290C>G (p.Ala97Gly)	ALPI (A97G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383065	NM_001631.5(ALPI):c.296C>A (p.Ser99Tyr)	ALPI (S99Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055586	NM_001631.5(ALPI):c.333C>T (p.Ser111=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GBenign
Select item 2206008	NM_001631.5(ALPI):c.361G>A (p.Gly121Arg)	ALPI (G121R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234907	NM_001631.5(ALPI):c.371C>T (p.Ala124Val)	ALPI (A124V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388296	NM_001631.5(ALPI):c.425C>T (p.Thr142Met)	ALPI (T142M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037549	NM_001631.5(ALPI):c.431G>A (p.Arg144His)	ALPI (R144H)	Single nucleotide variant (missense variant)	ALPI-related condition	GBenign
Select item 3040623	NM_001631.5(ALPI):c.438T>A (p.Asn146Lys)	ALPI (N146K)	Single nucleotide variant (missense variant)	ALPI-related condition	GBenign
Select item 2628902	NM_001631.5(ALPI):c.487G>A (p.Gly163Arg)	ALPI (G163R)	Single nucleotide variant (missense variant)	ALPI-related condition	GUncertain significance
Select item 3040610	NM_001631.5(ALPI):c.522G>A (p.Ser174=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 2220128	NM_001631.5(ALPI):c.529G>A (p.Gly177Ser)	ALPI (G177S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509408	NM_001631.5(ALPI):c.577A>G (p.Met193Val)	ALPI (M193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285624	NM_001631.5(ALPI):c.592C>T (p.Arg198Cys)	ALPI (R198C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037335	NM_001631.5(ALPI):c.620C>T (p.Thr207Ile)	ALPI (T207I)	Single nucleotide variant (missense variant)	ALPI-related condition	GBenign
Select item 3040507	NM_001631.5(ALPI):c.660C>T (p.Gly220=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 2267119	NM_001631.5(ALPI):c.676A>G (p.Met226Val)	ALPI (M226V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052933	NM_001631.5(ALPI):c.744C>T (p.Asp248=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 3041973	NM_001631.5(ALPI):c.783+8G>A	ALPI	Single nucleotide variant (intron variant)	ALPI-related condition	GBenign
Select item 2610459	NM_001631.5(ALPI):c.797T>C (p.Val266Ala)	ALPI (V266A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409493	NM_001631.5(ALPI):c.824C>T (p.Ala275Val)	ALPI (A275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034146	NM_001631.5(ALPI):c.857-7C>T	ALPI	Single nucleotide variant (intron variant)	ALPI-related condition	GLikely benign
Select item 2312873	NM_001631.5(ALPI):c.869C>T (p.Pro290Leu)	ALPI (P290L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042796	NM_001631.5(ALPI):c.870C>T (p.Pro290=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GBenign
Select item 1809652	NM_001631.5(ALPI):c.895C>T (p.Arg299Ter)	ALPI (R299*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2277428	NM_001631.5(ALPI):c.931A>G (p.Thr311Ala)	ALPI (T311A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392149	NM_001631.5(ALPI):c.967C>T (p.Arg323Cys)	ALPI (R323C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553333	NM_001631.5(ALPI):c.986T>C (p.Val329Ala)	ALPI (V329A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688326	NM_001631.5(ALPI):c.991+33C>T	ALPI	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2490915	NM_001631.5(ALPI):c.994G>A (p.Gly332Ser)	ALPI (G332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056637	NM_001631.5(ALPI):c.1023T>C (p.Gly341=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GBenign
Select item 3057720	NM_001631.5(ALPI):c.1050G>A (p.Ala350=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 2487822	NM_001631.5(ALPI):c.1056G>A (p.Met352Ile)	ALPI (M352I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038142	NM_001631.5(ALPI):c.1065C>T (p.Asp355=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GBenign
Select item 3040517	NM_001631.5(ALPI):c.1095C>T (p.Ser365=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 3039594	NM_001631.5(ALPI):c.1122C>T (p.Thr374=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 2354468	NM_001631.5(ALPI):c.1164G>T (p.Leu388Phe)	ALPI (L388F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2687939	NM_001631.5(ALPI):c.1183+59T>C	ALPI	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3047811	NM_001631.5(ALPI):c.1185G>A (p.Gly395=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 2493836	NM_001631.5(ALPI):c.1201G>T (p.Ala401Ser)	ALPI (A401S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479794	NM_001631.5(ALPI):c.1238G>A (p.Gly413Asp)	ALPI (G413D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509362	NM_001631.5(ALPI):c.1306C>G (p.Pro436Ala)	ALPI (P436A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335447	NM_001631.5(ALPI):c.1315C>T (p.Gln439Ter)	ALPI (Q439*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2243549	NM_001631.5(ALPI):c.1330G>C (p.Val444Leu)	ALPI (V444L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042656	NM_001631.5(ALPI):c.1332G>A (p.Val444=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 2350683	NM_001631.5(ALPI):c.1347G>C (p.Glu449Asp)	ALPI (E449D)	Single nucleotide variant (missense variant)	ALPI-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3053263	NM_001631.5(ALPI):c.1488G>A (p.Ala496=)	ALPI	Single nucleotide variant (synonymous variant)	ALPI-related condition	GLikely benign
Select item 2379229	NM_001631.5(ALPI):c.1498T>C (p.Cys500Arg)	ALPI (C500R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	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 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

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Items: 91