ISL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 3355551	NM_002202.3(ISL1):c.-4A>G	ISL1	Single nucleotide variant (5 prime UTR variant)	ISL1-related disorder	GLikely benign
Select item 3349397	NM_002202.3(ISL1):c.10A>T (p.Met4Leu)	ISL1 (M4L)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3349401	NM_002202.3(ISL1):c.33A>G (p.Lys11=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2636623	NM_002202.3(ISL1):c.38T>A (p.Leu13Gln)	ISL1 (L13Q)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3032368	NM_002202.3(ISL1):c.48A>G (p.Leu16=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3358427	NM_002202.3(ISL1):c.69G>A (p.Gln23=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3349933	NM_002202.3(ISL1):c.81G>A (p.Gln27=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3356839	NM_002202.3(ISL1):c.102G>A (p.Pro34=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3355052	NM_002202.3(ISL1):c.120G>T (p.Ala40=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3358301	NM_002202.3(ISL1):c.132A>G (p.Lys44=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3353241	NM_002202.3(ISL1):c.137C>T (p.Ala46Val)	ISL1 (A46V)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 374407	NM_002202.3(ISL1):c.137C>G (p.Ala46Gly)	ISL1 (A46G)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 3358484	NM_002202.3(ISL1):c.138G>A (p.Ala46=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3357692	NM_002202.3(ISL1):c.159C>T (p.Asp53=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3356402	NM_002202.3(ISL1):c.168T>C (p.Cys56=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3353704	NM_002202.3(ISL1):c.182G>A (p.Arg61Lys)	ISL1 (R61K)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3344554	NM_002202.3(ISL1):c.192A>G (p.Lys64=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3354024	NM_002202.3(ISL1):c.219-7_219-5del	ISL1	Deletion (intron variant)	ISL1-related disorder	GLikely benign
Select item 3350550	NM_002202.3(ISL1):c.219-7C>T	ISL1	Single nucleotide variant (intron variant)	ISL1-related disorder	GLikely benign
Select item 3029087	NM_002202.3(ISL1):c.219-4A>G	ISL1	Single nucleotide variant (intron variant)	ISL1-related disorder	GLikely benign
Select item 3049528	NM_002202.3(ISL1):c.219-3C>T	ISL1	Single nucleotide variant (intron variant)	ISL1-related disorder	GLikely benign
Select item 3345954	NM_002202.3(ISL1):c.267C>T (p.Asn89=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3036423	NM_002202.3(ISL1):c.276G>A (p.Val92=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3357488	NM_002202.3(ISL1):c.282T>C (p.Arg94=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3345508	NM_002202.3(ISL1):c.291C>T (p.Ser97=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3358585	NM_002202.3(ISL1):c.297G>C (p.Val99=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3356990	NM_002202.3(ISL1):c.300T>C (p.Tyr100=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3348454	NM_002202.3(ISL1):c.308A>G (p.Glu103Gly)	ISL1 (E103G)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3354455	NM_002202.3(ISL1):c.317G>A (p.Arg106His)	ISL1 (R106H)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3357080	NM_002202.3(ISL1):c.321T>C (p.Cys107=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2278560	NM_002202.3(ISL1):c.337C>G (p.Gln113Glu)	ISL1 (Q113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286609	NM_002202.3(ISL1):c.344T>C (p.Ile115Thr)	ISL1 (I115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035262	NM_002202.3(ISL1):c.345C>T (p.Ile115=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3357718	NM_002202.3(ISL1):c.360T>C (p.Phe120=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3353745	NM_002202.3(ISL1):c.363G>A (p.Ala121=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2568939	NM_002202.3(ISL1):c.367C>T (p.Arg123Trp)	ISL1 (R123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286611	NM_002202.3(ISL1):c.394G>C (p.Asp132His)	ISL1 (D132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286613	NM_002202.3(ISL1):c.397C>T (p.His133Tyr)	ISL1 (H133Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030264	NM_002202.3(ISL1):c.408G>T (p.Val136=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3356906	NM_002202.3(ISL1):c.419G>A (p.Ser140Asn)	ISL1 (S140N)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 2634970	NM_002202.3(ISL1):c.428C>G (p.Ala143Gly)	ISL1 (A143G)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3036549	NM_002202.3(ISL1):c.436C>A (p.Pro146Thr)	ISL1 (P146T)	Single nucleotide variant (missense variant)	ISL1-related disorder	GLikely benign
Select item 3354863	NM_002202.3(ISL1):c.438G>T (p.Pro146=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2394242	NM_002202.3(ISL1):c.445C>G (p.Pro149Ala)	ISL1 (P149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357244	NM_002202.3(ISL1):c.459G>A (p.Ala153=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3048762	NM_002202.3(ISL1):c.459G>T (p.Ala153=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3351456	NM_002202.3(ISL1):c.462G>T (p.Arg154=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3357753	NM_002202.3(ISL1):c.479-5C>T	ISL1	Single nucleotide variant (intron variant)	ISL1-related disorder	GLikely benign
Select item 373894	NM_002202.3(ISL1):c.479-4G>A	ISL1	Single nucleotide variant (intron variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 3346332	NM_002202.3(ISL1):c.504_533del (p.Ala169_Pro178del)	ISL1	Deletion (inframe_deletion)	ISL1-related disorder	GUncertain significance
Select item 3060342	NM_002202.3(ISL1):c.504A>G (p.Pro168=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GBenign
Select item 778187	NM_002202.3(ISL1):c.513G>A (p.Arg171=)	ISL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3354018	NM_002202.3(ISL1):c.519C>T (p.His173=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2631945	NM_002202.3(ISL1):c.526A>G (p.Lys176Glu)	ISL1 (K176E)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 2636127	NM_002202.3(ISL1):c.541A>T (p.Thr181Ser)	ISL1 (T181S)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 778320	NM_002202.3(ISL1):c.567C>T (p.Asn189=)	ISL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3047671	NM_002202.3(ISL1):c.582C>T (p.His194=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2214974	NM_002202.3(ISL1):c.622G>T (p.Ala208Ser)	ISL1 (A208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031231	NM_002202.3(ISL1):c.636G>A (p.Glu212=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3348364	NM_002202.3(ISL1):c.699G>A (p.Arg233=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3031954	NM_002202.3(ISL1):c.715C>A (p.Arg239=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2633978	NM_002202.3(ISL1):c.755A>G (p.Asn252Ser)	ISL1 (N252S)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 714089	NM_002202.3(ISL1):c.766-10C>T	ISL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3355405	NM_002202.3(ISL1):c.766-5C>G	ISL1	Single nucleotide variant (intron variant)	ISL1-related disorder	GLikely benign
Select item 545557	NM_002202.3(ISL1):c.766-1G>A	ISL1	Single nucleotide variant (splice acceptor variant)	Heart, malformation of	GUncertain significance
Select item 3356667	NM_002202.3(ISL1):c.778A>T (p.Met260Leu)	ISL1 (M260L)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 2607776	NM_002202.3(ISL1):c.780G>A (p.Met260Ile)	ISL1 (M260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355552	NM_002202.3(ISL1):c.819C>T (p.His273=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3344060	NM_002202.3(ISL1):c.819C>G (p.His273Gln)	ISL1 (H273Q)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3357919	NM_002202.3(ISL1):c.820G>C (p.Asp274His)	ISL1 (D274H)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3358616	NM_002202.3(ISL1):c.823G>A (p.Gly275Ser)	ISL1 (G275S)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3355001	NM_002202.3(ISL1):c.825T>C (p.Gly275=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2292211	NM_002202.3(ISL1):c.833A>G (p.Gln278Arg)	ISL1 (Q278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509806	NM_002202.3(ISL1):c.849A>T (p.Glu283Asp)	ISL1 (E283D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350007	NM_002202.3(ISL1):c.869C>A (p.Pro290His)	ISL1 (P290H)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 2635554	NM_002202.3(ISL1):c.869C>T (p.Pro290Leu)	ISL1 (P290L)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3356854	NM_002202.3(ISL1):c.880C>T (p.Leu294=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 779241	NM_002202.3(ISL1):c.885C>T (p.Ser295=)	ISL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260542	NM_002202.3(ISL1):c.886G>A (p.Asp296Asn)	ISL1 (D296N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634079	NM_002202.3(ISL1):c.907A>C (p.Ile303Leu)	ISL1 (I303L)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3355230	NM_002202.3(ISL1):c.933G>A (p.Leu311=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3345253	NM_002202.3(ISL1):c.956C>G (p.Pro319Arg)	ISL1 (P319R)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3046764	NM_002202.3(ISL1):c.957G>A (p.Pro319=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3354472	NM_002202.3(ISL1):c.984A>G (p.Val328=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2634326	NM_002202.3(ISL1):c.985G>A (p.Ala329Thr)	ISL1 (A329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353321	NM_002202.3(ISL1):c.987A>G (p.Ala329=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3353565	NM_002202.3(ISL1):c.990A>G (p.Ser330=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3286612	NM_002202.3(ISL1):c.991A>G (p.Met331Val)	ISL1 (M331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353376	NM_002202.3(ISL1):c.1002A>G (p.Gln334=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3353590	NM_002202.3(ISL1):c.1005T>C (p.Leu335=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2219655	NM_002202.3(ISL1):c.1019A>G (p.Asn340Ser)	ISL1 (N340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045283	NM_002202.3(ISL1):c.1023C>T (p.Ser341=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 2636063	NM_002202.3(ISL1):c.1024A>G (p.Met342Val)	ISL1 (M342V)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance
Select item 3350638	NM_002202.3(ISL1):c.1029A>G (p.Val343=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related disorder	GLikely benign
Select item 3353209	NM_002202.3(ISL1):c.1039A>G (p.Ile347Val)	ISL1 (I347V)	Single nucleotide variant (missense variant)	ISL1-related disorder	GUncertain significance

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