27152[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148326	GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1	ABHD18, HSPA4L +22 more	Copy number loss	See cases	GUncertain significance
Select item 1266253	NC_000004.12:g.127632734G>A	INTU	Single nucleotide variant	not provided	GBenign
Select item 1251589	NC_000004.12:g.127632830C>A	INTU	Single nucleotide variant	not provided	GBenign
Select item 2177687	NM_015693.4(INTU):c.32C>G (p.Pro11Arg)	INTU (P11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994592	NM_015693.4(INTU):c.35G>A (p.Ser12Asn)	INTU (S12N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883944	NM_015693.4(INTU):c.58C>G (p.Pro20Ala)	INTU (P20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937421	NM_015693.4(INTU):c.59C>T (p.Pro20Leu)	INTU (P20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907596	NM_015693.4(INTU):c.69AGA[2] (p.Glu25del)	INTU (E25del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2064411	NM_015693.4(INTU):c.75A>T (p.Glu25Asp)	INTU (E25D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1943654	NM_015693.4(INTU):c.77A>T (p.Asp26Val)	INTU (D26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977235	NM_015693.4(INTU):c.83A>T (p.Asp28Val)	INTU (D28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079097	NM_015693.4(INTU):c.92T>A (p.Phe31Tyr)	INTU (F31Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1613877	NM_015693.4(INTU):c.104T>C (p.Val35Ala)	INTU (V35A)	Single nucleotide variant (missense variant)	INTU-related disorder +1 more	GBenign
Select item 1923341	NM_015693.4(INTU):c.107G>C (p.Ser36Thr)	INTU (S36T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944878	NM_015693.4(INTU):c.109G>T (p.Asp37Tyr)	INTU (D37Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415454	NM_015693.4(INTU):c.114G>C (p.Ser38=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973772	NM_015693.4(INTU):c.131C>T (p.Ala44Val)	INTU (A44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969326	NM_015693.4(INTU):c.146+12A>G	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032500	NM_015693.4(INTU):c.146+16A>C	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294771	NM_015693.4(INTU):c.146+69G>A	INTU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1931910	NM_015693.4(INTU):c.147-4A>T	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921048	NM_015693.4(INTU):c.147-4A>G	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800765	NM_015693.4(INTU):c.149A>C (p.Asp50Ala)	INTU (D50A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963402	NM_015693.4(INTU):c.198T>G (p.Phe66Leu)	INTU (F66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910955	NM_015693.4(INTU):c.212G>A (p.Ser71Asn)	INTU (S71N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020469	NM_015693.4(INTU):c.216G>A (p.Glu72=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182304	NM_015693.4(INTU):c.217G>T (p.Asp73Tyr)	INTU (D73Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908257	NM_015693.4(INTU):c.229A>G (p.Ser77Gly)	INTU (S77G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2259066	NM_015693.4(INTU):c.259C>T (p.His87Tyr)	INTU (H87Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110260	NM_015693.4(INTU):c.260A>C (p.His87Pro)	INTU (H87P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393254	NM_015693.4(INTU):c.267G>C (p.Arg89Ser)	INTU (R89S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819793	NM_015693.4(INTU):c.270C>T (p.Phe90=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005634	NM_015693.4(INTU):c.283A>C (p.Ile95Leu)	INTU (I95L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2015158	NM_015693.4(INTU):c.295G>A (p.Asp99Asn)	INTU (D99N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636803	NM_015693.4(INTU):c.310del (p.Arg104fs)	INTU (R104fs)	Deletion (frameshift variant)	INTU-related disorder	GLikely pathogenic
Select item 1970568	NM_015693.4(INTU):c.319T>C (p.Tyr107His)	INTU (Y107H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907564	NM_015693.4(INTU):c.327C>G (p.Pro109=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2311546	NM_015693.4(INTU):c.331C>T (p.Leu111Phe)	INTU (L111F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2804812	NM_015693.4(INTU):c.337C>A (p.Gln113Lys)	INTU (Q113K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189393	NM_015693.4(INTU):c.356G>C (p.Arg119Thr)	INTU (R119T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2618776	NM_015693.4(INTU):c.379C>T (p.Arg127Cys)	INTU (R127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416564	NM_015693.4(INTU):c.380G>A (p.Arg127His)	INTU (R127H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2309545	NM_015693.4(INTU):c.383G>A (p.Cys128Tyr)	INTU (C128Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2485590	NM_015693.4(INTU):c.396T>A (p.Asn132Lys)	INTU (N132K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 504484	NM_015693.4(INTU):c.396del (p.Asn132fs)	INTU (N132fs)	Deletion (frameshift variant)	Mohr syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3021149	NM_015693.4(INTU):c.404A>G (p.Asp135Gly)	INTU (D135G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895759	NM_015693.4(INTU):c.407A>G (p.Asn136Ser)	INTU (N136S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175553	NM_015693.4(INTU):c.412C>T (p.Pro138Ser)	INTU (P138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901741	NM_015693.4(INTU):c.417A>G (p.Val139=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969764	NM_015693.4(INTU):c.452G>A (p.Gly151Glu)	INTU (G151E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988220	NM_015693.4(INTU):c.455T>G (p.Val152Gly)	INTU (V152G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713590	NM_015693.4(INTU):c.469C>T (p.Arg157Ter)	INTU (R157*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2790603	NM_015693.4(INTU):c.470G>A (p.Arg157Gln)	INTU (R157Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249414	NM_015693.4(INTU):c.471A>G (p.Arg157=)	INTU	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome 17 +3 more	GBenign
Select item 2958752	NM_015693.4(INTU):c.503A>G (p.Lys168Arg)	INTU (K168R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803880	NM_015693.4(INTU):c.511A>G (p.Thr171Ala)	INTU (T171A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2337992	NM_015693.4(INTU):c.515T>A (p.Val172Asp)	INTU (V172D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2832236	NM_015693.4(INTU):c.517A>T (p.Ile173Phe)	INTU (I173F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2548430	NM_015693.4(INTU):c.517A>G (p.Ile173Val)	INTU (I173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905958	NM_015693.4(INTU):c.544C>T (p.Leu182=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818603	NM_015693.4(INTU):c.545del (p.Leu182fs)	INTU (L182fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2178762	NM_015693.4(INTU):c.590G>A (p.Arg197Lys)	INTU (R197K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162520	NM_015693.4(INTU):c.597C>T (p.Thr199=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185256	NM_015693.4(INTU):c.607G>A (p.Gly203Ser)	INTU (G203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022348	NM_015693.4(INTU):c.616G>A (p.Glu206Lys)	INTU (E206K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980872	NM_015693.4(INTU):c.618G>C (p.Glu206Asp)	INTU (E206D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986417	NM_015693.4(INTU):c.625G>A (p.Val209Met)	INTU (V209M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2413604	NM_015693.4(INTU):c.651A>T (p.Gly217=)	INTU	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2954842	NM_015693.4(INTU):c.659T>C (p.Met220Thr)	INTU (M220T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1931255	NM_015693.4(INTU):c.667G>A (p.Gly223Ser)	INTU (G223S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192255	NM_015693.4(INTU):c.668G>A (p.Gly223Asp)	INTU (G223D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265632	NM_015693.4(INTU):c.683-201T>G	INTU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1644449	NM_015693.4(INTU):c.683-16G>C	INTU	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 20 with polydactyly +2 more	GBenign/Likely benign
Select item 2970443	NM_015693.4(INTU):c.683-13A>T	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572879	NM_015693.4(INTU):c.683-10C>A	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718736	NM_015693.4(INTU):c.688G>A (p.Val230Ile)	INTU (V230I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613473	NM_015693.4(INTU):c.697G>T (p.Ala233Ser)	INTU (A233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051021	NM_015693.4(INTU):c.704A>G (p.Asn235Ser)	INTU (N235S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045811	NM_015693.4(INTU):c.712G>A (p.Asp238Asn)	INTU (D238N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879319	NM_015693.4(INTU):c.737G>C (p.Arg246Thr)	INTU (R246T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413938	NM_015693.4(INTU):c.768+8C>A	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999799	NM_015693.4(INTU):c.768+12C>G	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898239	NM_015693.4(INTU):c.768+20A>G	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238459	NM_015693.4(INTU):c.769-32G>A	INTU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1906335	NM_015693.4(INTU):c.769-19A>T	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821587	NM_015693.4(INTU):c.769-4A>C	INTU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1494870	NM_015693.4(INTU):c.792A>G (p.Ala264=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737702	NM_015693.4(INTU):c.800T>C (p.Val267Ala)	INTU (V267A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958001	NM_015693.4(INTU):c.811A>T (p.Thr271Ser)	INTU (T271S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179813	NM_015693.4(INTU):c.813G>A (p.Thr271=)	INTU	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome 17 +3 more	GBenign
Select item 504483	NM_015693.4(INTU):c.826C>T (p.Gln276Ter)	INTU (Q276*)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 20 with polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 1618069	NM_015693.4(INTU):c.861C>G (p.Val287=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1248101	NM_015693.4(INTU):c.894C>T (p.Ile298=)	INTU	Single nucleotide variant (synonymous variant)	not provided	GBenign

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