ClinVar for Gene (Select 10527) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286322	NM_006391.3(IPO7):c.1057G>A (p.Val353Ile)	IPO7 (V353I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286321	NM_006391.3(IPO7):c.1648A>G (p.Ile550Val)	IPO7 (I550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286320	NM_006391.3(IPO7):c.1274A>G (p.Asp425Gly)	IPO7 (D425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286319	NM_006391.3(IPO7):c.374G>A (p.Arg125His)	IPO7 (R125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 3110346	NM_006391.3(IPO7):c.950T>G (p.Met317Arg)	IPO7 (M317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110345	NM_006391.3(IPO7):c.94T>G (p.Ser32Ala)	IPO7 (S32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110344	NM_006391.3(IPO7):c.2944C>G (p.His982Asp)	IPO7 (H982D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110343	NM_006391.3(IPO7):c.2768C>G (p.Ala923Gly)	IPO7 (A923G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110342	NM_006391.3(IPO7):c.239C>T (p.Pro80Leu)	IPO7 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110341	NM_006391.3(IPO7):c.227G>T (p.Gly76Val)	IPO7 (G76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110340	NM_006391.3(IPO7):c.1963A>G (p.Ile655Val)	IPO7 (I655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110338	NM_006391.3(IPO7):c.1784G>A (p.Gly595Glu)	IPO7 (G595E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110337	NM_006391.3(IPO7):c.1580A>G (p.Asn527Ser)	IPO7 (N527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110336	NM_006391.3(IPO7):c.1386C>G (p.Phe462Leu)	IPO7 (F462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110335	NM_006391.3(IPO7):c.1313C>G (p.Ser438Cys)	IPO7 (S438C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619877	NM_006391.3(IPO7):c.218C>T (p.Thr73Ile)	IPO7 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611509	NM_006391.3(IPO7):c.1397G>A (p.Ser466Asn)	IPO7 (S466N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608027	NM_006391.3(IPO7):c.1721C>T (p.Thr574Ile)	IPO7 (T574I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602272	NM_006391.3(IPO7):c.189G>A (p.Met63Ile)	IPO7 (M63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589492	NM_006391.3(IPO7):c.1399A>G (p.Ser467Gly)	IPO7 (S467G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518005	NM_006391.3(IPO7):c.2947G>C (p.Gly983Arg)	IPO7 (G983R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509980	NM_006391.3(IPO7):c.1790A>G (p.Asp597Gly)	IPO7 (D597G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488702	NM_006391.3(IPO7):c.1876A>G (p.Lys626Glu)	IPO7 (K626E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466489	NM_006391.3(IPO7):c.2408A>G (p.Asn803Ser)	IPO7 (N803S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410191	NM_006391.3(IPO7):c.1517T>C (p.Ile506Thr)	IPO7 (I506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356506	NM_006391.3(IPO7):c.2935G>A (p.Ala979Thr)	IPO7 (A979T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347256	NM_006391.3(IPO7):c.2357C>G (p.Ala786Gly)	IPO7 (A786G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340276	NM_006391.3(IPO7):c.2786A>T (p.Asp929Val)	IPO7 (D929V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334838	NM_006391.3(IPO7):c.677C>G (p.Thr226Arg)	IPO7 (T226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328564	NM_006391.3(IPO7):c.799A>G (p.Ile267Val)	IPO7 (I267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322903	NM_006391.3(IPO7):c.2413C>T (p.Arg805Cys)	IPO7 (R805C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315461	NM_006391.3(IPO7):c.2011A>T (p.Met671Leu)	IPO7 (M671L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313459	NM_006391.3(IPO7):c.1088C>G (p.Ala363Gly)	IPO7 (A363G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311311	NM_006391.3(IPO7):c.2182G>A (p.Gly728Arg)	IPO7 (G728R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286932	NM_006391.3(IPO7):c.286G>T (p.Val96Leu)	IPO7 (V96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247799	NM_006391.3(IPO7):c.406T>A (p.Tyr136Asn)	IPO7 (Y136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245556	NM_006391.3(IPO7):c.2477A>G (p.Asp826Gly)	IPO7 (D826G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232694	NM_006391.3(IPO7):c.1861G>A (p.Val621Ile)	IPO7 (V621I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226466	NM_006391.3(IPO7):c.1264C>G (p.Pro422Ala)	IPO7 (P422A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206769	NM_006391.3(IPO7):c.2580G>C (p.Gln860His)	IPO7 (Q860H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 150273	GRCh38/hg38 11p15.4(chr11:9166889-9494694)x3	DENND5A, IPO7 +20 more	Copy number gain	See cases	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55