18398[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148666	GRCh38/hg38 4q22.1-22.3(chr4:92087558-94308725)x1	ATOH1, GRID2 +14 more	Copy number loss	See cases	GUncertain significance
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 152885	GRCh38/hg38 4q22.2-22.3(chr4:94071164-94561427)x4	HPGDS, LOC112997547 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1050853	Single allele	LOC129992843, SMARCAD1 +1 more	Complex	Basan syndrome	GPathogenic
Select item 1225197	NM_020159.5(SMARCAD1):c.-50+17T>C	SMARCAD1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2240466	NM_020159.5(SMARCAD1):c.13A>G (p.Asn5Asp)	SMARCAD1 (N5D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166306	NM_020159.5(SMARCAD1):c.37A>G (p.Lys13Glu)	SMARCAD1 (K13E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337260	NM_020159.5(SMARCAD1):c.89C>G (p.Pro30Arg)	SMARCAD1 (P30R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527816	NM_020159.5(SMARCAD1):c.112C>G (p.Leu38Val)	SMARCAD1 (L38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320784	NM_020159.5(SMARCAD1):c.126G>C (p.Glu42Asp)	SMARCAD1 (E42D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237920	NM_020159.5(SMARCAD1):c.142G>A (p.Glu48Lys)	SMARCAD1 (E48K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1243509	NM_020159.5(SMARCAD1):c.190+290G>A	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287784	NM_020159.5(SMARCAD1):c.191-215C>G	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3320783	NM_020159.5(SMARCAD1):c.233C>A (p.Ala78Glu)	SMARCAD1 (A77E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 373389	NM_020159.5(SMARCAD1):c.304G>A (p.Val102Ile)	SMARCAD1 (V102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2474090	NM_020159.5(SMARCAD1):c.319T>C (p.Ser107Pro)	SMARCAD1 (S106P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166305	NM_020159.5(SMARCAD1):c.323A>G (p.Asn108Ser)	SMARCAD1 (N107S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1253074	NM_020159.5(SMARCAD1):c.368+106C>T	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2616146	NM_020159.5(SMARCAD1):c.385G>A (p.Asp129Asn)	SMARCAD1 (D128N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 731092	NM_020159.5(SMARCAD1):c.412A>G (p.Met138Val)	SMARCAD1 (M138V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2314846	NM_020159.5(SMARCAD1):c.451C>G (p.Leu151Val)	SMARCAD1 (L150V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320782	NM_020159.5(SMARCAD1):c.571A>G (p.Ile191Val)	SMARCAD1 (I190V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048860	NM_020159.5(SMARCAD1):c.594T>C (p.Phe198=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	SMARCAD1-related disorder	GLikely benign
Select item 1261751	NM_020159.5(SMARCAD1):c.605-61C>T	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2369294	NM_020159.5(SMARCAD1):c.650A>G (p.Tyr217Cys)	SMARCAD1 (Y217C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1283015	NM_020159.5(SMARCAD1):c.705+268G>A	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286948	NM_020159.5(SMARCAD1):c.740G>A (p.Ser247Asn)	SMARCAD1 (S246N +1 more)	Single nucleotide variant (missense variant +1 more)	Basan syndrome +3 more	GBenign
Select item 3320785	NM_020159.5(SMARCAD1):c.827A>G (p.Lys276Arg)	SMARCAD1 (K275R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166308	NM_020159.5(SMARCAD1):c.893T>C (p.Met298Thr)	SMARCAD1 (M297T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1220932	NM_020159.5(SMARCAD1):c.902T>C (p.Val301Ala)	SMARCAD1 (V300A +1 more)	Single nucleotide variant (missense variant +1 more)	Keratoderma with scleroatrophy of the extremities +3 more	GBenign
Select item 2327748	NM_020159.5(SMARCAD1):c.908A>C (p.Gln303Pro)	SMARCAD1 (Q302P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 789281	NM_020159.5(SMARCAD1):c.933A>G (p.Glu311=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2400845	NM_020159.5(SMARCAD1):c.943A>G (p.Arg315Gly)	SMARCAD1 (R314G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166309	NM_020159.5(SMARCAD1):c.971C>G (p.Thr324Ser)	SMARCAD1 (T323S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166294	NM_020159.5(SMARCAD1):c.1000A>G (p.Met334Val)	SMARCAD1 (M334V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274156	NM_020159.5(SMARCAD1):c.1036A>G (p.Lys346Glu)	SMARCAD1 (K345E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 771143	NM_020159.5(SMARCAD1):c.1051C>T (p.Pro351Ser)	SMARCAD1 (P350S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3166295	NM_020159.5(SMARCAD1):c.1054A>G (p.Lys352Glu)	SMARCAD1 (K351E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283616	NM_020159.5(SMARCAD1):c.1064T>C (p.Val355Ala)	SMARCAD1 (V354A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166296	NM_020159.5(SMARCAD1):c.1079A>G (p.Tyr360Cys)	SMARCAD1 (Y360C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300470	NM_020159.5(SMARCAD1):c.1129G>A (p.Gly377Ser)	SMARCAD1 (G377S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271280	NM_020159.5(SMARCAD1):c.1156A>G (p.Lys386Glu)	SMARCAD1 (K386E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166298	NM_020159.5(SMARCAD1):c.1192A>G (p.Ile398Val)	SMARCAD1 (I397V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257788	NM_020159.5(SMARCAD1):c.1195G>A (p.Gly399Ser)	SMARCAD1 (G398S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 620663	NM_020159.5(SMARCAD1):c.1281+649_1281+666del	SMARCAD1	Deletion (intron variant +1 more)	Keratoderma with scleroatrophy of the extremities	GPathogenic
Select item 620664	NM_020159.5(SMARCAD1):c.1281+666dup	SMARCAD1	Duplication (intron variant +1 more)	not provided	GLikely pathogenic
Select item 187776	NM_020159.5(SMARCAD1):c.1281+665G>A	SMARCAD1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 30981	NM_020159.5(SMARCAD1):c.1281+665G>T	SMARCAD1	Single nucleotide variant (intron variant +1 more)	Basan syndrome +1 more	GPathogenic
Select item 187777	NM_020159.5(SMARCAD1):c.1281+666T>C	SMARCAD1	Single nucleotide variant (intron variant +1 more)	Keratoderma with scleroatrophy of the extremities +1 more	GPathogenic
Select item 187779	NM_020159.5(SMARCAD1):c.1281+667A>T	SMARCAD1	Single nucleotide variant (intron variant)	Basan syndrome	GPathogenic
Select item 187778	NM_020159.5(SMARCAD1):c.1281+669G>C	SMARCAD1	Single nucleotide variant (intron variant)	Adermatoglyphia	GPathogenic
Select item 2654953	NM_020159.5(SMARCAD1):c.1282-6del	SMARCAD1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 3060970	NM_020159.5(SMARCAD1):c.1282-4A>G	SMARCAD1	Single nucleotide variant (intron variant)	SMARCAD1-related disorder	GBenign
Select item 2457577	NM_020159.5(SMARCAD1):c.1285A>G (p.Thr429Ala)	SMARCAD1 (T428A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1259682	NM_020159.5(SMARCAD1):c.1479A>G (p.Gln493=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	Adermatoglyphia +3 more	GBenign
Select item 2316653	NM_020159.5(SMARCAD1):c.1544G>A (p.Gly515Glu)	SMARCAD1 (G515E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068308	NM_020159.5(SMARCAD1):c.1733-4C>A	SMARCAD1	Single nucleotide variant (intron variant)	Basan syndrome	GUncertain significance
Select item 2604257	NM_020159.5(SMARCAD1):c.1822A>G (p.Ile608Val)	SMARCAD1 (I608V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1236001	NM_020159.5(SMARCAD1):c.1839C>T (p.Asp613=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	Keratoderma with scleroatrophy of the extremities +3 more	GBenign
Select item 711200	NM_020159.5(SMARCAD1):c.2001C>G (p.Leu667=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 791619	NM_020159.5(SMARCAD1):c.2007G>A (p.Ser669=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1278346	NM_020159.5(SMARCAD1):c.2083-94C>G	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716336	NM_020159.5(SMARCAD1):c.2197C>G (p.Pro733Ala)	SMARCAD1 (P733A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3320787	NM_020159.5(SMARCAD1):c.2227A>G (p.Met743Val)	SMARCAD1 (M313V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 976343	NM_020159.5(SMARCAD1):c.2263T>C (p.Phe755Leu)	SMARCAD1 (F325L +3 more)	Single nucleotide variant (missense variant +1 more)	Adermatoglyphia	GPathogenic
Select item 3041182	NM_020159.5(SMARCAD1):c.2267A>G (p.Asn756Ser)	SMARCAD1 (N326S +3 more)	Single nucleotide variant (missense variant +1 more)	SMARCAD1-related disorder	GBenign
Select item 3166299	NM_020159.5(SMARCAD1):c.2369A>G (p.Gln790Arg)	SMARCAD1 (Q792R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3337600	NM_020159.5(SMARCAD1):c.2425A>C (p.Thr809Pro)	SMARCAD1 (T379P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3166300	NM_020159.5(SMARCAD1):c.2544C>G (p.Asp848Glu)	SMARCAD1 (D847E +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 996734	NM_020159.5(SMARCAD1):c.2557T>A (p.Ser853Thr)	SMARCAD1 (S423T +5 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3320786	NM_020159.5(SMARCAD1):c.2570G>A (p.Arg857Gln)	SMARCAD1 (R429Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166302	NM_020159.5(SMARCAD1):c.2600A>G (p.Lys867Arg)	SMARCAD1 (K437R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1231263	NM_020159.5(SMARCAD1):c.2608-248G>C	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228927	NM_020159.5(SMARCAD1):c.2608-131G>A	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3040114	NM_020159.5(SMARCAD1):c.2625A>G (p.Leu875=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	SMARCAD1-related disorder	GBenign
Select item 2333786	NM_020159.5(SMARCAD1):c.2678A>T (p.His893Leu)	SMARCAD1 (H463L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1248828	NM_020159.5(SMARCAD1):c.2726+283CAA[5]	SMARCAD1	Microsatellite (intron variant)	not provided	GBenign
Select item 3166303	NM_020159.5(SMARCAD1):c.2762A>G (p.Asp921Gly)	SMARCAD1 (D921G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 793412	NM_020159.5(SMARCAD1):c.2766C>T (p.Ile922=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 798937	NM_020159.5(SMARCAD1):c.2841C>T (p.His947=)	SMARCAD1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1049737	NM_020159.5(SMARCAD1):c.2905A>G (p.Thr969Ala)	SMARCAD1 (T539A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2619148	NM_020159.5(SMARCAD1):c.2914G>A (p.Val972Ile)	SMARCAD1 (V542I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466277	NM_020159.5(SMARCAD1):c.2942G>A (p.Gly981Glu)	SMARCAD1 (G553E +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 736212	NM_020159.5(SMARCAD1):c.2946G>A (p.Thr982=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3166304	NM_020159.5(SMARCAD1):c.3070A>T (p.Met1024Leu)	SMARCAD1 (M1017L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527110	GRCh37/hg19 4q22.2-22.3(chr4:95007859-95510281)	HPGDS, PDLIM5 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1341210	GRCh37/hg19 4q22.2-22.3(chr4:94684885-95389684)x3	ATOH1, GRID2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 562945	GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1	CCSER1, UNC5C +11 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 443904	GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1	ATOH1, BMPR1B +12 more	Copy number loss	See cases	GLikely pathogenic

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