23511[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 58499	GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3	DOLK, ENDOG +16 more	Copy number gain	See cases	GUncertain significance
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 365207	NM_014908.3(DOLK):c.-404G>A	DOLK, NUP188	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 365208	NM_014908.3(DOLK):c.-411C>T	DOLK, NUP188	Single nucleotide variant (5 prime UTR variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 365209	NM_015354.3(NUP188):c.8C>T (p.Ala3Val)	DOLK, NUP188 (A3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2341712	NM_015354.3(NUP188):c.17G>C (p.Gly6Ala)	NUP188 (G6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 369621	NC_000009.12:g.128947738G>A	DOLK, NUP188 (G7R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2305293	NM_015354.3(NUP188):c.25T>G (p.Cys9Gly)	NUP188 (C9G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203046	NM_015354.3(NUP188):c.26G>A (p.Cys9Tyr)	NUP188 (C9Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 676304	NM_014908.3(DOLK):c.-543T>C	DOLK, NUP188	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264437	NC_000009.12:g.128947888G>A	NUP188, DOLK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673511	NM_014908.3(DOLK):c.-604T>C	DOLK, NUP188	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276585	NC_000009.12:g.128948062C>T	DOLK, NUP188	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2323833	NM_015354.3(NUP188):c.62T>C (p.Leu21Pro)	NUP188 (L21P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 680441	NM_015354.3(NUP188):c.87G>A (p.Leu29=)	NUP188	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3203035	NM_015354.3(NUP188):c.121C>T (p.Arg41Trp)	NUP188 (R41W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659550	NM_015354.3(NUP188):c.124C>T (p.Arg42Ter)	NUP188 (R42*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2470642	NM_015354.3(NUP188):c.172G>C (p.Ala58Pro)	NUP188 (A58P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346799	NM_015354.3(NUP188):c.190A>G (p.Asn64Asp)	NUP188 (N64D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2363178	NM_015354.3(NUP188):c.273G>T (p.Gln91His)	NUP188 (Q91H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 816694	NM_015354.3(NUP188):c.287dup (p.Tyr96Ter)	NUP188 (Y96*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 810438	NM_015354.3(NUP188):c.337C>T (p.Gln113Ter)	NUP188 (Q113*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 797740	NM_015354.3(NUP188):c.426C>T (p.His142=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296891	NM_015354.3(NUP188):c.446A>G (p.Asp149Gly)	NUP188 (D149G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046084	NM_015354.3(NUP188):c.456C>T (p.His152=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 3301489	NM_015354.3(NUP188):c.458C>T (p.Pro153Leu)	NUP188 (P153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394196	NM_015354.3(NUP188):c.463A>G (p.Arg155Gly)	NUP188 (R155G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326741	NM_015354.3(NUP188):c.471A>C (p.Glu157Asp)	NUP188 (E157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383193	NM_015354.3(NUP188):c.553G>A (p.Ala185Thr)	NUP188 (A185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293122	NM_015354.3(NUP188):c.572A>G (p.His191Arg)	NUP188 (H191R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288641	NM_015354.3(NUP188):c.585+5G>A	NUP188	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3038547	NM_015354.3(NUP188):c.592C>A (p.Arg198Ser)	NUP188 (R198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2214025	NM_015354.3(NUP188):c.605G>A (p.Arg202His)	NUP188 (R202H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659551	NM_015354.3(NUP188):c.609G>C (p.Trp203Cys)	NUP188 (W203C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051611	NM_015354.3(NUP188):c.614T>C (p.Val205Ala)	NUP188 (V205A)	Single nucleotide variant (missense variant)	NUP188-related disorder	GLikely benign
Select item 2388798	NM_015354.3(NUP188):c.690T>G (p.Ser230Arg)	NUP188 (S230R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462035	NM_015354.3(NUP188):c.700G>C (p.Val234Leu)	NUP188 (V234L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268379	NM_015354.3(NUP188):c.722A>G (p.Glu241Gly)	NUP188 (E241G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371683	NM_015354.3(NUP188):c.724C>A (p.Gln242Lys)	NUP188 (Q242K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041397	NM_015354.3(NUP188):c.784G>A (p.Val262Ile)	NUP188 (V262I)	Single nucleotide variant (missense variant)	NUP188-related disorder	GLikely benign
Select item 2232080	NM_015354.3(NUP188):c.796G>A (p.Gly266Ser)	NUP188 (G266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025649	NM_015354.3(NUP188):c.825G>A (p.Glu275=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040531	NM_015354.3(NUP188):c.837C>T (p.Ile279=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 1806590	NM_015354.3(NUP188):c.880C>T (p.His294Tyr)	NUP188 (H294Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2308986	NM_015354.3(NUP188):c.890C>T (p.Ala297Val)	NUP188 (A297V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659552	NM_015354.3(NUP188):c.891G>A (p.Ala297=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 918007	NM_015354.3(NUP188):c.904_907del (p.Ile302fs)	NUP188 (I302fs)	Deletion (frameshift variant)	Sandestig-stefanova syndrome	GPathogenic
Select item 2322164	NM_015354.3(NUP188):c.908G>A (p.Cys303Tyr)	NUP188 (C303Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608045	NM_015354.3(NUP188):c.989G>A (p.Arg330His)	NUP188 (R330H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659553	NM_015354.3(NUP188):c.1002C>G (p.Asn334Lys)	NUP188 (N334K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027238	NM_015354.3(NUP188):c.1005A>G (p.Pro335=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2218597	NM_015354.3(NUP188):c.1019G>A (p.Ser340Asn)	NUP188 (S340N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395008	NM_015354.3(NUP188):c.1021G>A (p.Val341Met)	NUP188 (V341M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398899	NM_015354.3(NUP188):c.1053G>C (p.Gln351His)	NUP188 (Q351H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662431	NM_015354.3(NUP188):c.1075A>T (p.Thr359Ser)	NUP188 (T359S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3203032	NM_015354.3(NUP188):c.1136T>C (p.Met379Thr)	NUP188 (M379T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659554	NM_015354.3(NUP188):c.1140T>C (p.Cys380=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3203033	NM_015354.3(NUP188):c.1169C>G (p.Thr390Ser)	NUP188 (T390S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716555	NM_015354.3(NUP188):c.1170C>T (p.Thr390=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3301492	NM_015354.3(NUP188):c.1172C>T (p.Ser391Leu)	NUP188 (S391L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327017	NM_015354.3(NUP188):c.1203+31T>C	NUP188	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 731233	NM_015354.3(NUP188):c.1205A>G (p.Asp402Gly)	NUP188 (D402G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3203034	NM_015354.3(NUP188):c.1214A>G (p.Asp405Gly)	NUP188 (D405G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234476	NM_015354.3(NUP188):c.1217C>G (p.Thr406Arg)	NUP188 (T406R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055278	NM_015354.3(NUP188):c.1231T>C (p.Leu411=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 2301773	NM_015354.3(NUP188):c.1235C>T (p.Ala412Val)	NUP188 (A412V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203036	NM_015354.3(NUP188):c.1325A>G (p.His442Arg)	NUP188 (H442R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434467	NM_015354.3(NUP188):c.1355G>A (p.Arg452Gln)	NUP188 (R452Q)	Single nucleotide variant (missense variant)	Sandestig-stefanova syndrome	GUncertain significance
Select item 3203037	NM_015354.3(NUP188):c.1396A>G (p.Ser466Gly)	NUP188 (S466G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462713	NM_015354.3(NUP188):c.1408A>G (p.Lys470Glu)	NUP188 (K470E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203038	NM_015354.3(NUP188):c.1424A>G (p.Asn475Ser)	NUP188 (N475S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659555	NM_015354.3(NUP188):c.1432T>C (p.Tyr478His)	NUP188 (Y478H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2252489	NM_015354.3(NUP188):c.1483C>T (p.Arg495Trp)	NUP188 (R495W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252115	NM_015354.3(NUP188):c.1504C>T (p.Leu502Phe)	NUP188 (L502F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806790	NM_015354.3(NUP188):c.1516+1G>T	NUP188	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3257464	NM_015354.3(NUP188):c.1541C>T (p.Pro514Leu)	NUP188 (P514L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026045	NM_015354.3(NUP188):c.1563A>G (p.Val521=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057487	NM_015354.3(NUP188):c.1567T>C (p.Leu523=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 2394474	NM_015354.3(NUP188):c.1591C>T (p.Arg531Cys)	NUP188 (R531C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288081	NM_015354.3(NUP188):c.1657G>A (p.Val553Ile)	NUP188 (V553I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659556	NM_015354.3(NUP188):c.1684T>C (p.Cys562Arg)	NUP188 (C562R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2218460	NM_015354.3(NUP188):c.1741T>C (p.Ser581Pro)	NUP188 (S581P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025487	NM_015354.3(NUP188):c.1743G>A (p.Ser581=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2273669	NM_015354.3(NUP188):c.1754G>T (p.Cys585Phe)	NUP188 (C585F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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