8295[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC123956263, LOC123956264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129999343, LOC129999344 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 1222828	NM_001375524.1(TRRAP):c.-61-33A>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2052555	NM_001375524.1(TRRAP):c.6G>A (p.Ala2=)	TRRAP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3011466	NM_001375524.1(TRRAP):c.28A>G (p.Thr10Ala)	TRRAP (T10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956294	NM_001375524.1(TRRAP):c.29C>T (p.Thr10Met)	TRRAP (T10M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2834351	NM_001375524.1(TRRAP):c.32T>C (p.Val11Ala)	TRRAP (V11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636996	NM_001375524.1(TRRAP):c.38A>C (p.Asp13Ala)	TRRAP (D13A)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 3041424	NM_001375524.1(TRRAP):c.49T>C (p.Leu17=)	TRRAP	Single nucleotide variant (synonymous variant)	TRRAP-related disorder	GLikely benign
Select item 1678236	NM_001375524.1(TRRAP):c.52A>T (p.Met18Leu)	TRRAP (M18L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326642	NM_001375524.1(TRRAP):c.52A>C (p.Met18Leu)	TRRAP (M18L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333826	NM_001375524.1(TRRAP):c.59A>G (p.Lys20Arg)	TRRAP (K20R)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 1327285	NM_001375524.1(TRRAP):c.79G>C (p.Ala27Pro)	TRRAP (A27P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776619	NM_001375524.1(TRRAP):c.81T>C (p.Ala27=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740684	NM_001375524.1(TRRAP):c.101-9C>T	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2186048	NM_001375524.1(TRRAP):c.101-8G>A	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012498	NM_001375524.1(TRRAP):c.101-4A>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 982942	NM_001375524.1(TRRAP):c.104A>G (p.Asp35Gly)	TRRAP (D35G)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 2574250	NM_001375524.1(TRRAP):c.142A>T (p.Asn48Tyr)	TRRAP (N48Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827040	NM_001375524.1(TRRAP):c.150+3A>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 792084	NM_001375524.1(TRRAP):c.150+8C>T	TRRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2902837	NM_001375524.1(TRRAP):c.150+9A>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287771	NM_001375524.1(TRRAP):c.150+60G>A	TRRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2835471	NM_001375524.1(TRRAP):c.151-17del	TRRAP	Deletion (intron variant)	not provided	GLikely benign
Select item 3020417	NM_001375524.1(TRRAP):c.151-17T>C	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174456	NM_001375524.1(TRRAP):c.151-5A>C	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2256201	NM_001375524.1(TRRAP):c.158C>T (p.Thr53Met)	TRRAP (T53M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2084188	NM_001375524.1(TRRAP):c.177T>C (p.Ser59=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182854	NM_001375524.1(TRRAP):c.184C>T (p.Leu62=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789157	NM_001375524.1(TRRAP):c.198C>A (p.Ile66=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582043	NM_001375524.1(TRRAP):c.200C>T (p.Pro67Leu)	TRRAP (P67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631205	NM_001375524.1(TRRAP):c.203G>A (p.Arg68Gln)	TRRAP (R68Q)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2429103	NM_001375524.1(TRRAP):c.205T>C (p.Phe69Leu)	TRRAP (F69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329364	NM_001375524.1(TRRAP):c.236A>C (p.Gln79Pro)	TRRAP (Q79P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2855708	NM_001375524.1(TRRAP):c.248A>G (p.Glu83Gly)	TRRAP (E83G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027095	NM_001375524.1(TRRAP):c.252A>G (p.Lys84=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132298	NM_001375524.1(TRRAP):c.262-11T>A	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2175741	NM_001375524.1(TRRAP):c.262-6T>C	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2227982	NM_001375524.1(TRRAP):c.269G>A (p.Arg90Gln)	TRRAP (R90Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2814497	NM_001375524.1(TRRAP):c.294T>C (p.His98=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718722	NM_001375524.1(TRRAP):c.298A>G (p.Ile100Val)	TRRAP (I100V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2765633	NM_001375524.1(TRRAP):c.315T>C (p.His105=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635618	NM_001375524.1(TRRAP):c.342G>T (p.Leu114Phe)	TRRAP (L114F)	Single nucleotide variant (missense variant)	TRRAP-related disorder	GUncertain significance
Select item 2617141	NM_001375524.1(TRRAP):c.346G>A (p.Val116Met)	TRRAP (V116M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1999432	NM_001375524.1(TRRAP):c.351G>A (p.Met117Ile)	TRRAP (M117I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2504283	NM_001375524.1(TRRAP):c.364G>C (p.Glu122Gln)	TRRAP (E122Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437356	NM_001375524.1(TRRAP):c.366+2dup	TRRAP	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1249571	NM_001375524.1(TRRAP):c.367-160T>C	TRRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989734	NM_001375524.1(TRRAP):c.367-20C>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939539	NM_001375524.1(TRRAP):c.367-19A>T	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418477	NM_001375524.1(TRRAP):c.367-10T>C	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080239	NM_001375524.1(TRRAP):c.367-3del	TRRAP	Deletion (intron variant)	not provided	GBenign
Select item 3014183	NM_001375524.1(TRRAP):c.367-3T>C	TRRAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2416686	NM_001375524.1(TRRAP):c.367A>G (p.Thr123Ala)	TRRAP (T123A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733075	NM_001375524.1(TRRAP):c.368C>T (p.Thr123Met)	TRRAP (T123M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190907	NM_001375524.1(TRRAP):c.388C>A (p.Leu130Ile)	TRRAP (L130I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835500	NM_001375524.1(TRRAP):c.401G>C (p.Arg134Thr)	TRRAP (R134T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913103	NM_001375524.1(TRRAP):c.402A>G (p.Arg134=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076969	NM_001375524.1(TRRAP):c.437C>T (p.Pro146Leu)	TRRAP (P146L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895708	NM_001375524.1(TRRAP):c.438G>A (p.Pro146=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334689	NM_001375524.1(TRRAP):c.450+859A>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3023429	NM_001375524.1(TRRAP):c.451-20A>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970631	NM_001375524.1(TRRAP):c.451-16T>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2187581	NM_001375524.1(TRRAP):c.451-3del	TRRAP	Deletion (intron variant)	not provided	GBenign
Select item 1980993	NM_001375524.1(TRRAP):c.451-4T>G	TRRAP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2902990	NM_001375524.1(TRRAP):c.453T>A (p.Ile151=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882636	NM_001375524.1(TRRAP):c.454C>A (p.His152Asn)	TRRAP (H152N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709337	NM_001375524.1(TRRAP):c.455A>G (p.His152Arg)	TRRAP (H152R)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GUncertain significance
Select item 1950264	NM_001375524.1(TRRAP):c.486C>T (p.Tyr162=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414907	NM_001375524.1(TRRAP):c.507+6T>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1250771	NM_001375524.1(TRRAP):c.508-62_508-61dup	TRRAP	Duplication (intron variant)	not provided	GBenign
Select item 1229617	NM_001375524.1(TRRAP):c.508-60G>T	TRRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812648	NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys)	TRRAP (R171C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2715218	NM_001375524.1(TRRAP):c.512G>A (p.Arg171His)	TRRAP (R171H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058502	NM_001375524.1(TRRAP):c.531A>G (p.Gln177=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1988618	NM_001375524.1(TRRAP):c.532G>A (p.Val178Met)	TRRAP (V178M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806551	NM_001375524.1(TRRAP):c.539C>T (p.Pro180Leu)	TRRAP (P180L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194289	NM_001375524.1(TRRAP):c.540C>A (p.Pro180=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1028624	NM_001375524.1(TRRAP):c.550G>A (p.Val184Met)	TRRAP (V184M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1231354	NM_001375524.1(TRRAP):c.552G>C (p.Val184=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2795779	NM_001375524.1(TRRAP):c.574A>T (p.Met192Leu)	TRRAP (M192L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329367	NM_001375524.1(TRRAP):c.602A>G (p.Asn201Ser)	TRRAP (N201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1937265	NM_001375524.1(TRRAP):c.605C>T (p.Pro202Leu)	TRRAP (P202L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164293	NM_001375524.1(TRRAP):c.606G>A (p.Pro202=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2437368	NM_001375524.1(TRRAP):c.610C>A (p.Arg204Ser)	TRRAP (R204S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166377	NM_001375524.1(TRRAP):c.610C>T (p.Arg204Cys)	TRRAP (R204C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2104803	NM_001375524.1(TRRAP):c.611G>A (p.Arg204His)	TRRAP (R204H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2075774	NM_001375524.1(TRRAP):c.615G>A (p.Glu205=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2627150	NM_001375524.1(TRRAP):c.619A>G (p.Ser207Gly)	TRRAP (S207G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2222927	NM_001375524.1(TRRAP):c.625A>G (p.Thr209Ala)	TRRAP (T209A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2832192	NM_001375524.1(TRRAP):c.628C>G (p.Arg210Gly)	TRRAP (R210G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970954	NM_001375524.1(TRRAP):c.633+10T>G	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842964	NM_001375524.1(TRRAP):c.633+10T>A	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988263	NM_001375524.1(TRRAP):c.633+11C>T	TRRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1907717	NM_001375524.1(TRRAP):c.633+12G>A	TRRAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1690872	NM_001375524.1(TRRAP):c.634-3C>T	TRRAP	Single nucleotide variant (intron variant)	TRRAP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2240900	NM_001375524.1(TRRAP):c.640A>G (p.Ile214Val)	TRRAP (I214V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2901974	NM_001375524.1(TRRAP):c.648G>A (p.Pro216=)	TRRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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