ClinVar for Gene (Select 14) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260757	NM_001087.5(AAMP):c.752A>G (p.His251Arg)	AAMP (H251R +1 more)	Single nucleotide variant (missense variant)	not specified	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 3133591	NM_001087.5(AAMP):c.911C>T (p.Ala304Val)	AAMP (A305V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133536	NM_001087.5(AAMP):c.635A>C (p.Gln212Pro)	AAMP (Q212P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133507	NM_001087.5(AAMP):c.632T>G (p.Phe211Cys)	AAMP (F211C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133470	NM_001087.5(AAMP):c.58A>G (p.Ser20Gly)	AAMP, LOC129935593 (S20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133420	NM_001087.5(AAMP):c.543G>C (p.Glu181Asp)	AAMP (E181D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133351	NM_001087.5(AAMP):c.43C>A (p.Pro15Thr)	AAMP, LOC129935593 (P15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133281	NM_001087.5(AAMP):c.347C>G (p.Ala116Gly)	AAMP (A116G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133175	NM_001087.5(AAMP):c.141G>A (p.Met47Ile)	AAMP (M48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2462086	NM_001087.5(AAMP):c.44C>A (p.Pro15Gln)	AAMP, LOC129935593 (P15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378460	NM_001087.5(AAMP):c.211G>A (p.Glu71Lys)	AAMP (E71K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365520	NM_001087.5(AAMP):c.866C>T (p.Ala289Val)	AAMP (A290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352007	NM_001087.5(AAMP):c.575G>C (p.Gly192Ala)	AAMP (G193A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272330	NM_001087.5(AAMP):c.158A>G (p.Glu53Gly)	AAMP (E53G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231690	NM_001087.5(AAMP):c.481T>A (p.Trp161Arg)	AAMP (W162R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219052	NM_001087.5(AAMP):c.367G>A (p.Asp123Asn)	AAMP (D124N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	SPEG, TMEM198 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +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 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 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 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 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 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 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 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 42