30939[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 58430	GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3	CASC9, CRISPLD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 146063	GRCh38/hg38 8q21.13(chr8:76115629-78506009)x1	LINC01109, LINC01111 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3334401	NM_024721.5(ZFHX4):c.22C>A (p.Pro8Thr)	ZFHX4 (P8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471496	NM_024721.5(ZFHX4):c.38A>G (p.Glu13Gly)	ZFHX4 (E13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485546	NM_024721.5(ZFHX4):c.52A>C (p.Thr18Pro)	ZFHX4 (T18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193059	NM_024721.5(ZFHX4):c.64T>C (p.Cys22Arg)	ZFHX4 (C22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534778	NM_024721.5(ZFHX4):c.73A>G (p.Thr25Ala)	ZFHX4 (T25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1805977	NM_024721.5(ZFHX4):c.118C>T (p.Pro40Ser)	ZFHX4 (P40S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2327755	NM_024721.5(ZFHX4):c.124A>G (p.Arg42Gly)	ZFHX4 (R42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262090	NM_024721.5(ZFHX4):c.133A>C (p.Ser45Arg)	ZFHX4 (S45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334407	NM_024721.5(ZFHX4):c.155A>G (p.Lys52Arg)	ZFHX4 (K52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058764	NM_024721.5(ZFHX4):c.159G>C (p.Thr53=)	ZFHX4	Single nucleotide variant (synonymous variant)	ZFHX4-related disorder	GLikely benign
Select item 2227089	NM_024721.5(ZFHX4):c.167G>A (p.Arg56His)	ZFHX4 (R56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334408	NM_024721.5(ZFHX4):c.178G>A (p.Ala60Thr)	ZFHX4 (A60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790841	NM_024721.5(ZFHX4):c.192C>T (p.Phe64=)	ZFHX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3037425	NM_024721.5(ZFHX4):c.196G>C (p.Val66Leu)	ZFHX4 (V66L)	Single nucleotide variant (missense variant)	ZFHX4-related disorder	GBenign
Select item 2658657	NM_024721.5(ZFHX4):c.196G>A (p.Val66Ile)	ZFHX4 (V66I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2257982	NM_024721.5(ZFHX4):c.200A>G (p.Glu67Gly)	ZFHX4 (E67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053194	NM_024721.5(ZFHX4):c.234G>A (p.Lys78=)	ZFHX4	Single nucleotide variant (synonymous variant)	ZFHX4-related disorder	GLikely benign
Select item 3193033	NM_024721.5(ZFHX4):c.241C>A (p.Pro81Thr)	ZFHX4 (P81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290467	NM_024721.5(ZFHX4):c.383C>G (p.Thr128Arg)	ZFHX4 (T128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549299	NM_024721.5(ZFHX4):c.437A>T (p.Lys146Ile)	ZFHX4 (K146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057594	NM_024721.5(ZFHX4):c.447G>A (p.Gly149=)	ZFHX4	Single nucleotide variant (synonymous variant)	ZFHX4-related disorder	GLikely benign
Select item 3193044	NM_024721.5(ZFHX4):c.478C>T (p.Leu160Phe)	ZFHX4 (L160F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782751	NM_024721.5(ZFHX4):c.490G>A (p.Ala164Thr)	ZFHX4 (A164T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3334416	NM_024721.5(ZFHX4):c.530G>A (p.Ser177Asn)	ZFHX4 (S177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334417	NM_024721.5(ZFHX4):c.534T>G (p.Asp178Glu)	ZFHX4 (D178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227221	NM_024721.5(ZFHX4):c.550C>T (p.Pro184Ser)	ZFHX4 (P184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193051	NM_024721.5(ZFHX4):c.568C>G (p.Gln190Glu)	ZFHX4 (Q190E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278228	NM_024721.5(ZFHX4):c.572T>G (p.Ile191Ser)	ZFHX4 (I191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734150	NM_024721.5(ZFHX4):c.597A>T (p.Ser199=)	ZFHX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3043988	NM_024721.5(ZFHX4):c.609A>G (p.Lys203=)	ZFHX4	Single nucleotide variant (synonymous variant)	ZFHX4-related disorder	GLikely benign
Select item 2658658	NM_024721.5(ZFHX4):c.686T>C (p.Val229Ala)	ZFHX4 (V229A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600686	NM_024721.5(ZFHX4):c.711G>T (p.Glu237Asp)	ZFHX4 (E237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334426	NM_024721.5(ZFHX4):c.752G>A (p.Cys251Tyr)	ZFHX4 (C251Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409574	NM_024721.5(ZFHX4):c.774C>A (p.Asn258Lys)	ZFHX4 (N258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474850	NM_024721.5(ZFHX4):c.810C>A (p.Ser270Arg)	ZFHX4 (S270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334425	NM_024721.5(ZFHX4):c.811G>C (p.Asp271His)	ZFHX4 (D271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513846	NM_024721.5(ZFHX4):c.826C>T (p.Pro276Ser)	ZFHX4 (P276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285927	NM_024721.5(ZFHX4):c.846G>T (p.Leu282Phe)	ZFHX4 (L282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505253	NM_024721.5(ZFHX4):c.868A>G (p.Ile290Val)	ZFHX4 (I290V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600687	NM_024721.5(ZFHX4):c.921C>A (p.Asp307Glu)	ZFHX4 (D307E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515352	NM_024721.5(ZFHX4):c.921C>G (p.Asp307Glu)	ZFHX4 (D307E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 735016	NM_024721.5(ZFHX4):c.942T>C (p.Ser314=)	ZFHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600688	NM_024721.5(ZFHX4):c.950G>A (p.Cys317Tyr)	ZFHX4 (C317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553243	NM_024721.5(ZFHX4):c.953T>A (p.Val318Asp)	ZFHX4 (V318D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193077	NM_024721.5(ZFHX4):c.986A>G (p.Lys329Arg)	ZFHX4 (K329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590549	NM_024721.5(ZFHX4):c.1030G>A (p.Val344Ile)	ZFHX4 (V344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041201	NM_024721.5(ZFHX4):c.1032T>C (p.Val344=)	ZFHX4	Single nucleotide variant (synonymous variant)	ZFHX4-related disorder	GLikely benign
Select item 2254904	NM_024721.5(ZFHX4):c.1046C>T (p.Ser349Phe)	ZFHX4 (S349F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457547	NM_024721.5(ZFHX4):c.1049C>A (p.Thr350Asn)	ZFHX4 (T350N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476989	NM_024721.5(ZFHX4):c.1057C>A (p.Leu353Ile)	ZFHX4 (L353I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408896	NM_024721.5(ZFHX4):c.1076C>T (p.Thr359Ile)	ZFHX4 (T359I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049996	NM_024721.5(ZFHX4):c.1119C>T (p.Asp373=)	ZFHX4	Single nucleotide variant (synonymous variant)	ZFHX4-related disorder	GLikely benign
Select item 3193027	NM_024721.5(ZFHX4):c.1129G>A (p.Ala377Thr)	ZFHX4 (A377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478810	NM_024721.5(ZFHX4):c.1163C>A (p.Thr388Asn)	ZFHX4 (T388N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532683	NM_024721.5(ZFHX4):c.1169G>A (p.Ser390Asn)	ZFHX4 (S390N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724846	NM_024721.5(ZFHX4):c.1177G>C (p.Glu393Gln)	ZFHX4 (E393Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2673153	NM_024721.5(ZFHX4):c.1230dup (p.Leu411fs)	ZFHX4 (L411fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3352827	NM_024721.5(ZFHX4):c.1224G>C (p.Leu408=)	ZFHX4	Single nucleotide variant (synonymous variant)	ZFHX4-related disorder	GLikely benign
Select item 2672270	NM_024721.5(ZFHX4):c.1277G>A (p.Ser426Asn)	ZFHX4 (S426N)	Single nucleotide variant (missense variant)	Ptosis, hereditary congenital, 1	GBenign
Select item 2386044	NM_024721.5(ZFHX4):c.1286C>T (p.Ser429Leu)	ZFHX4 (S429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462033	NM_024721.5(ZFHX4):c.1387A>C (p.Lys463Gln)	ZFHX4 (K463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050045	NM_024721.5(ZFHX4):c.1413T>C (p.Asp471=)	ZFHX4	Single nucleotide variant (synonymous variant)	ZFHX4-related disorder	GLikely benign
Select item 3193028	NM_024721.5(ZFHX4):c.1459G>C (p.Val487Leu)	ZFHX4 (V487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050059	NM_024721.5(ZFHX4):c.1475C>T (p.Thr492Ile)	ZFHX4 (T492I)	Single nucleotide variant (missense variant)	ZFHX4-related disorder	GBenign
Select item 2658659	NM_024721.5(ZFHX4):c.1497T>C (p.Asp499=)	ZFHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3193029	NM_024721.5(ZFHX4):c.1603A>G (p.Lys535Glu)	ZFHX4 (K535E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334421	NM_024721.5(ZFHX4):c.1693A>G (p.Ser565Gly)	ZFHX4 (S565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317947	NM_024721.5(ZFHX4):c.1727A>T (p.Glu576Val)	ZFHX4 (E576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334406	NM_024721.5(ZFHX4):c.1729A>G (p.Ile577Val)	ZFHX4 (I577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735017	NM_024721.5(ZFHX4):c.1737G>C (p.Arg579=)	ZFHX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2244176	NM_024721.5(ZFHX4):c.1744G>A (p.Glu582Lys)	ZFHX4 (E582K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297835	NM_024721.5(ZFHX4):c.1751G>C (p.Ser584Thr)	ZFHX4 (S584T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932480	NM_024721.5(ZFHX4):c.1762C>A (p.Pro588Thr)	ZFHX4 (P588T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334405	NM_024721.5(ZFHX4):c.1841A>G (p.Glu614Gly)	ZFHX4 (E614G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 799185	NM_024721.5(ZFHX4):c.2010G>T (p.Pro670=)	ZFHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3193030	NM_024721.5(ZFHX4):c.2039G>A (p.Gly680Glu)	ZFHX4 (G680E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723193	NM_024721.5(ZFHX4):c.2094C>T (p.Pro698=)	ZFHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238296	NM_024721.5(ZFHX4):c.2111G>A (p.Cys704Tyr)	ZFHX4 (C704Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431436	NM_024721.5(ZFHX4):c.2144G>A (p.Ser715Asn)	ZFHX4 (S715N)	Single nucleotide variant (missense variant)	Ptosis, hereditary congenital, 1 +1 more	GUncertain significance
Select item 2255264	NM_024721.5(ZFHX4):c.2227G>T (p.Ala743Ser)	ZFHX4 (A743S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193031	NM_024721.5(ZFHX4):c.2266C>T (p.Pro756Ser)	ZFHX4 (P756S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334429	NM_024721.5(ZFHX4):c.2318A>G (p.Asp773Gly)	ZFHX4 (D773G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259974	NM_024721.5(ZFHX4):c.2330A>G (p.Asn777Ser)	ZFHX4 (N777S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193032	NM_024721.5(ZFHX4):c.2408A>G (p.Lys803Arg)	ZFHX4 (K803R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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