ClinVar for Gene (Select 2016) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275385	NM_004097.3(EMX1):c.172G>A (p.Gly58Ser)	EMX1 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088788	NM_004097.3(EMX1):c.851T>C (p.Ile284Thr)	EMX1 (I284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088787	NM_004097.3(EMX1):c.638A>G (p.Lys213Arg)	EMX1 (K213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088786	NM_004097.3(EMX1):c.109C>T (p.Pro37Ser)	EMX1 (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2600837	NM_004097.3(EMX1):c.22C>T (p.Pro8Ser)	EMX1, LOC129934073 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526966	NM_004097.3(EMX1):c.61A>G (p.Arg21Gly)	EMX1, LOC129934073 (R21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476658	NM_004097.3(EMX1):c.115G>A (p.Ala39Thr)	EMX1 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2391817	NM_004097.3(EMX1):c.209C>A (p.Ala70Glu)	EMX1 (A70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334590	NM_004097.3(EMX1):c.494A>C (p.Asn165Thr)	EMX1 (N165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312212	NM_004097.3(EMX1):c.40C>G (p.Pro14Ala)	EMX1, LOC129934073 (P14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311394	NM_004097.3(EMX1):c.173G>A (p.Gly58Asp)	EMX1 (G58D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308638	NM_004097.3(EMX1):c.568C>T (p.Arg190Cys)	EMX1 (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303404	NM_004097.3(EMX1):c.65C>T (p.Ala22Val)	EMX1, LOC129934073 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299855	NM_004097.3(EMX1):c.82G>C (p.Ala28Pro)	EMX1 (A28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280622	NM_004097.3(EMX1):c.389T>A (p.Val130Glu)	EMX1 (V130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269848	NM_004097.3(EMX1):c.394C>T (p.Pro132Ser)	EMX1 (P132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253838	NM_004097.3(EMX1):c.379G>A (p.Ala127Thr)	EMX1 (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707632	GRCh37/hg19 2p13.2(chr2:72622191-72939279)x1	SPR, EMX1 +2 more	Copy number loss	Isolated anorectal malformation	Gassociation
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 1056266	NC_000002.11:g.(?_73114549)_(73836749_?)dup	NOTO, ALMS1 +9 more	Duplication	Alstrom syndrome	GUncertain significance
Select item 814274	GRCh37/hg19 2p13.2(chr2:72846007-73207841)x3	SPR, EXOC6B +2 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60181	GRCh38/hg38 2p13.2(chr2:72861062-72992130)x1	EMX1, LOC110120967 +9 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33