ClinVar for Gene (Select 9470) - ClinVar

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Links from Gene

Items: 51

	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 3088000	NM_004846.4(EIF4E2):c.719C>G (p.Pro240Arg)	EIF4E2, LOC126806553 (P195R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087999	NM_004846.4(EIF4E2):c.590G>A (p.Arg197Gln)	EIF4E2 (R152Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087997	NM_004846.4(EIF4E2):c.295A>G (p.Ser99Gly)	EIF4E2 (S94G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087996	NM_004846.4(EIF4E2):c.208G>A (p.Gly70Ser)	EIF4E2 (G70S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087995	NM_004846.4(EIF4E2):c.19G>A (p.Ala7Thr)	EIF4E2, LOC129935865 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087994	NM_004846.4(EIF4E2):c.163C>T (p.Pro55Ser)	EIF4E2 (P55S +1 more)	Single nucleotide variant (missense variant +1 more)	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 2602332	NM_004846.4(EIF4E2):c.610C>T (p.Leu204Phe)	EIF4E2 (L199F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602115	NM_004846.4(EIF4E2):c.98C>T (p.Thr33Met)	EIF4E2 (T33M +1 more)	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 2461277	NM_004846.4(EIF4E2):c.721C>T (p.Arg241Trp)	EIF4E2, LOC126806553 (R236W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362604	NM_004846.4(EIF4E2):c.152C>T (p.Pro51Leu)	EIF4E2 (P46L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325104	NM_004846.4(EIF4E2):c.308G>A (p.Arg103His)	EIF4E2 (R58H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309396	NM_004846.4(EIF4E2):c.575C>T (p.Thr192Ile)	EIF4E2 (T192I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257758	NM_004846.4(EIF4E2):c.691A>G (p.Arg231Gly)	EIF4E2, LOC126806553 (R186G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244645	NM_004846.4(EIF4E2):c.304G>A (p.Val102Ile)	EIF4E2 (V102I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232946	NM_004846.4(EIF4E2):c.376G>A (p.Asp126Asn)	EIF4E2 (D81N +2 more)	Single nucleotide variant (missense variant)	not specified	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
Select item 1450036	NC_000002.11:g.(?_233164730)_(234250992_?)dup	CHRND, ALPG +16 more	Duplication	not provided	GUncertain significance
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SPATA3, UGT1A3 +54 more	Duplication	Perlman 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 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 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)	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 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +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 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	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 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 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 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +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	LOC129935966, LOC129935967 +630 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 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +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	LOC129935713, LOC129935714 +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

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Links from Gene

Items: 51