3670[Gene ID] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +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 2636623	NM_002202.3(ISL1):c.38T>A (p.Leu13Gln)	ISL1 (L13Q)	Single nucleotide variant (missense variant)	ISL1-related condition	GUncertain significance
Select item 3032368	NM_002202.3(ISL1):c.48A>G (p.Leu16=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GLikely benign
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 3029087	NM_002202.3(ISL1):c.219-4A>G	ISL1	Single nucleotide variant (intron variant)	ISL1-related condition	GLikely benign
Select item 3049528	NM_002202.3(ISL1):c.219-3C>T	ISL1	Single nucleotide variant (intron variant)	ISL1-related condition	GLikely benign
Select item 3036423	NM_002202.3(ISL1):c.276G>A (p.Val92=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GLikely benign
Select item 2278560	NM_002202.3(ISL1):c.337C>G (p.Gln113Glu)	ISL1 (Q113E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035262	NM_002202.3(ISL1):c.345C>T (p.Ile115=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GLikely benign
Select item 2568939	NM_002202.3(ISL1):c.367C>T (p.Arg123Trp)	ISL1 (R123W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030264	NM_002202.3(ISL1):c.408G>T (p.Val136=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GLikely benign
Select item 2634970	NM_002202.3(ISL1):c.428C>G (p.Ala143Gly)	ISL1 (A143G)	Single nucleotide variant (missense variant)	ISL1-related condition	GUncertain significance
Select item 3036549	NM_002202.3(ISL1):c.436C>A (p.Pro146Thr)	ISL1 (P146T)	Single nucleotide variant (missense variant)	ISL1-related condition	GLikely benign
Select item 2394242	NM_002202.3(ISL1):c.445C>G (p.Pro149Ala)	ISL1 (P149A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048762	NM_002202.3(ISL1):c.459G>T (p.Ala153=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	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 3060342	NM_002202.3(ISL1):c.504A>G (p.Pro168=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GBenign
Select item 778187	NM_002202.3(ISL1):c.513G>A (p.Arg171=)	ISL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2631945	NM_002202.3(ISL1):c.526A>G (p.Lys176Glu)	ISL1 (K176E)	Single nucleotide variant (missense variant)	ISL1-related condition	GUncertain significance
Select item 2636127	NM_002202.3(ISL1):c.541A>T (p.Thr181Ser)	ISL1 (T181S)	Single nucleotide variant (missense variant)	ISL1-related condition	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 condition	GLikely benign
Select item 2214974	NM_002202.3(ISL1):c.622G>T (p.Ala208Ser)	ISL1 (A208S)	Single nucleotide variant (missense variant)	ISL1-related condition +1 more	GUncertain significance
Select item 3031231	NM_002202.3(ISL1):c.636G>A (p.Glu212=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GLikely benign
Select item 3031954	NM_002202.3(ISL1):c.715C>A (p.Arg239=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GLikely benign
Select item 2633978	NM_002202.3(ISL1):c.755A>G (p.Asn252Ser)	ISL1 (N252S)	Single nucleotide variant (missense variant)	ISL1-related condition	GUncertain significance
Select item 714089	NM_002202.3(ISL1):c.766-10C>T	ISL1	Single nucleotide variant (intron variant)	ISL1-related condition +1 more	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 2607776	NM_002202.3(ISL1):c.780G>A (p.Met260Ile)	ISL1 (M260I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292211	NM_002202.3(ISL1):c.833A>G (p.Gln278Arg)	ISL1 (Q278R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509806	NM_002202.3(ISL1):c.849A>T (p.Glu283Asp)	ISL1 (E283D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635554	NM_002202.3(ISL1):c.869C>T (p.Pro290Leu)	ISL1 (P290L)	Single nucleotide variant (missense variant)	ISL1-related condition	GUncertain significance
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)	Inborn genetic diseases	GUncertain significance
Select item 2634079	NM_002202.3(ISL1):c.907A>C (p.Ile303Leu)	ISL1 (I303L)	Single nucleotide variant (missense variant)	ISL1-related condition	GUncertain significance
Select item 3046764	NM_002202.3(ISL1):c.957G>A (p.Pro319=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GLikely benign
Select item 2634326	NM_002202.3(ISL1):c.985G>A (p.Ala329Thr)	ISL1 (A329T)	Single nucleotide variant (missense variant)	ISL1-related condition	GUncertain significance
Select item 2219655	NM_002202.3(ISL1):c.1019A>G (p.Asn340Ser)	ISL1 (N340S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045283	NM_002202.3(ISL1):c.1023C>T (p.Ser341=)	ISL1	Single nucleotide variant (synonymous variant)	ISL1-related condition	GLikely benign
Select item 2636063	NM_002202.3(ISL1):c.1024A>G (p.Met342Val)	ISL1 (M342V)	Single nucleotide variant (missense variant)	ISL1-related condition	GUncertain significance
Select item 3062846	GRCh37/hg19 5q11.1-11.2(chr5:49940276-51078552)x1	ISL1, PARP8	Copy number loss	not specified	GUncertain significance
Select item 3062843	GRCh37/hg19 5q11.1-11.2(chr5:50270297-52235860)x1	ISL1, ITGA1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685039	GRCh37/hg19 5q11.1-11.2(chr5:49984418-50805294)x4	ISL1, PARP8	Copy number gain	not provided	GUncertain significance
Select item 2684415	GRCh37/hg19 5q11.1(chr5:49526023-50688840)x3	EMB, ISL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979674	GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1	NDUFS4, MOCS2 +8 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 54