250[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +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	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +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 2606053	NM_001632.5(ALPP):c.38T>C (p.Leu13Pro)	ALPP (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291913	NM_001632.5(ALPP):c.54G>T (p.Gln18His)	ALPP (Q18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 13661	NM_001632.3(ALPP):c.74C>T (p.Pro25Leu)	ALPP (P25L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 13660	NM_001632.3(ALPP):c.74C= (p.Pro25=)	ALPP	Single nucleotide variant (no sequence alteration)	ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM	GBenign
Select item 788218	NM_001632.5(ALPP):c.77-9C>T	ALPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2251312	NM_001632.5(ALPP):c.107G>A (p.Arg36His)	ALPP (R36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778046	NM_001632.5(ALPP):c.108C>T (p.Arg36=)	ALPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773651	NM_001632.5(ALPP):c.109G>C (p.Glu37Gln)	ALPP (E37Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2374617	NM_001632.5(ALPP):c.133G>A (p.Ala45Thr)	ALPP (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2477322	NM_001632.5(ALPP):c.188G>T (p.Gly63Val)	ALPP (G63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712522	NM_001632.5(ALPP):c.189C>G (p.Gly63=)	ALPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2210097	NM_001632.5(ALPP):c.209C>T (p.Thr70Met)	ALPP (T70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469878	NM_001632.5(ALPP):c.259C>A (p.Pro87Thr)	ALPP (P87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113957	NM_001632.5(ALPP):c.269C>G (p.Pro90Arg)	ALPP (P90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113961	NM_001632.5(ALPP):c.364C>G (p.Leu122Val)	ALPP (L122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383569	NM_001632.5(ALPP):c.376A>C (p.Lys126Gln)	ALPP (K126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113969	NM_001632.5(ALPP):c.415C>T (p.Arg139Cys)	ALPP (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291902	NM_001632.5(ALPP):c.416G>A (p.Arg139His)	ALPP (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291935	NM_001632.5(ALPP):c.427T>C (p.Cys143Arg)	ALPP (C143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459903	NM_001632.5(ALPP):c.442G>C (p.Gly148Arg)	ALPP (G148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383087	NM_001632.5(ALPP):c.455T>A (p.Ile152Asn)	ALPP (I152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495714	NM_001632.5(ALPP):c.518T>A (p.Val173Glu)	ALPP (V173E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347578	NM_001632.5(ALPP):c.526G>T (p.Ala176Ser)	ALPP (A176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347579	NM_001632.5(ALPP):c.527C>G (p.Ala176Gly)	ALPP (A176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771133	NM_001632.5(ALPP):c.528C>A (p.Ala176=)	ALPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2259432	NM_001632.5(ALPP):c.542C>T (p.Thr181Ile)	ALPP (T181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296485	NM_001632.5(ALPP):c.547G>A (p.Ala183Thr)	ALPP (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114009	NM_001632.5(ALPP):c.548C>T (p.Ala183Val)	ALPP (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114013	NM_001632.5(ALPP):c.550C>A (p.His184Asn)	ALPP (H184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273345	NM_001632.5(ALPP):c.554C>A (p.Thr185Lys)	ALPP (T185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382193	NM_001632.5(ALPP):c.562C>A (p.Arg188Ser)	ALPP (R188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291897	NM_001632.5(ALPP):c.563G>A (p.Arg188His)	ALPP (R188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713935	NM_001632.5(ALPP):c.575C>G (p.Ser192Trp)	ALPP (S192W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3114020	NM_001632.5(ALPP):c.602G>A (p.Arg201His)	ALPP (R201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519724	NM_001632.5(ALPP):c.621C>G (p.Asp207Glu)	ALPP (D207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365311	NM_001632.5(ALPP):c.625G>T (p.Ala209Ser)	ALPP (A209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265600	NM_001632.5(ALPP):c.629C>T (p.Thr210Met)	ALPP (T210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709657	NM_001632.5(ALPP):c.657C>T (p.Asp219=)	ALPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114029	NM_001632.5(ALPP):c.685A>G (p.Met229Val)	ALPP (M229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486255	NM_001632.5(ALPP):c.687G>A (p.Met229Ile)	ALPP (M229I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767868	NM_001632.5(ALPP):c.692G>C (p.Arg231Pro)	ALPP (R231P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767869	NM_001632.5(ALPP):c.699A>G (p.Gly233=)	ALPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549404	NM_001632.5(ALPP):c.718C>G (p.Pro240Ala)	ALPP (P240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711873	NM_001632.5(ALPP):c.730A>G (p.Ser244Gly)	ALPP (S244G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2365343	NM_001632.5(ALPP):c.754G>A (p.Gly252Arg)	ALPP (G252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377185	NM_001632.5(ALPP):c.766G>A (p.Val256Met)	ALPP (V256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387923	NM_001632.5(ALPP):c.796G>T (p.Ala266Ser)	ALPP (A266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225273	NM_001632.5(ALPP):c.799C>T (p.Arg267Trp)	ALPP (R267W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767870	NM_001632.5(ALPP):c.804T>C (p.Tyr268=)	ALPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767871	NM_001632.5(ALPP):c.865+8C>T	ALPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2244426	NM_001632.5(ALPP):c.877C>A (p.Pro293Thr)	ALPP (P293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291924	NM_001632.5(ALPP):c.905G>C (p.Arg302Pro)	ALPP (R302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291906	NM_001632.5(ALPP):c.941C>G (p.Thr314Arg)	ALPP (T314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778047	NM_001632.5(ALPP):c.993C>T (p.Phe331=)	ALPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2482592	NM_001632.5(ALPP):c.1019G>T (p.Gly340Val)	ALPP (G340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621771	NM_001632.5(ALPP):c.1064T>C (p.Met355Thr)	ALPP (M355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113898	NM_001632.5(ALPP):c.1105G>C (p.Glu369Gln)	ALPP (E369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291915	NM_001632.5(ALPP):c.1232C>T (p.Thr411Met)	ALPP (T411M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113900	NM_001632.5(ALPP):c.1243T>G (p.Tyr415Asp)	ALPP (Y415D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304786	NM_001632.5(ALPP):c.1283G>A (p.Arg428Gln)	ALPP (R428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113908	NM_001632.5(ALPP):c.1288G>A (p.Asp430Asn)	ALPP (D430N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596003	NM_001632.5(ALPP):c.1292T>C (p.Val431Ala)	ALPP (V431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405002	NM_001632.5(ALPP):c.1342C>T (p.Pro448Ser)	ALPP (P448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113922	NM_001632.5(ALPP):c.1493T>G (p.Leu498Arg)	ALPP (L498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113925	NM_001632.5(ALPP):c.1507G>C (p.Gly503Arg)	ALPP (G503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284451	NM_001632.5(ALPP):c.1518C>G (p.Asp506Glu)	ALPP (D506E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350013	NM_001632.5(ALPP):c.1535G>A (p.Arg512Gln)	ALPP (R512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599450	NM_001632.5(ALPP):c.1565T>C (p.Leu522Pro)	ALPP (L522P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291914	NM_001632.5(ALPP):c.1567G>T (p.Ala523Ser)	ALPP (A523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394691	NM_001632.5(ALPP):c.1576C>G (p.Leu526Val)	ALPP (L526V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404165	NM_001632.5(ALPP):c.1588G>A (p.Glu530Lys)	ALPP (E530K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457260	NM_001632.5(ALPP):c.1589A>G (p.Glu530Gly)	ALPP (E530G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113945	NM_001632.5(ALPP):c.1600G>C (p.Ala534Pro)	ALPP (A534P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247277	NC_000002.11:g.(?_233194503)_(233399072_?)dup	ALPG, ALPI +5 more	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
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)	CHRND, CHRNG +93 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

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