FHDC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 150934	GRCh38/hg38 4q31.3(chr4:152519348-153381536)x1	ARFIP1, FBXW7 +39 more	Copy number loss	See cases	GUncertain significance
Select item 3278774	NM_001371116.1(FHDC1):c.124C>G (p.Pro42Ala)	FHDC1 (P42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529601	NM_001371116.1(FHDC1):c.125C>T (p.Pro42Leu)	FHDC1 (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592730	NM_001371116.1(FHDC1):c.202G>A (p.Gly68Arg)	FHDC1 (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278780	NM_001371116.1(FHDC1):c.214A>T (p.Ile72Phe)	FHDC1 (I72F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295392	NM_001371116.1(FHDC1):c.250C>T (p.His84Tyr)	FHDC1 (H84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208040	NM_001371116.1(FHDC1):c.286C>T (p.Arg96Trp)	FHDC1 (R96W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094916	NM_001371116.1(FHDC1):c.521G>A (p.Arg174Gln)	FHDC1 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094917	NM_001371116.1(FHDC1):c.569G>A (p.Arg190Gln)	FHDC1 (R190Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609523	NM_001371116.1(FHDC1):c.590A>G (p.His197Arg)	FHDC1 (H197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355352	NM_001371116.1(FHDC1):c.613G>A (p.Gly205Arg)	FHDC1 (G205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610222	NM_001371116.1(FHDC1):c.631G>A (p.Glu211Lys)	FHDC1 (E211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278776	NM_001371116.1(FHDC1):c.689G>A (p.Gly230Asp)	FHDC1 (G230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590801	NM_001371116.1(FHDC1):c.694G>A (p.Val232Met)	FHDC1 (V232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321182	NM_001371116.1(FHDC1):c.752A>G (p.Tyr251Cys)	FHDC1 (Y251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094919	NM_001371116.1(FHDC1):c.761G>A (p.Arg254Gln)	FHDC1 (R254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592984	NM_001371116.1(FHDC1):c.800C>T (p.Ser267Phe)	FHDC1 (S267F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094920	NM_001371116.1(FHDC1):c.866A>G (p.Glu289Gly)	FHDC1 (E289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490382	NM_001371116.1(FHDC1):c.938A>G (p.Asn313Ser)	FHDC1 (N313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791988	NM_001371116.1(FHDC1):c.1077G>A (p.Leu359=)	FHDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3094897	NM_001371116.1(FHDC1):c.1193G>A (p.Cys398Tyr)	FHDC1 (C398Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778161	NM_001371116.1(FHDC1):c.1260A>G (p.Gln420=)	FHDC1, LOC126807195	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2363693	NM_001371116.1(FHDC1):c.1318A>G (p.Met440Val)	FHDC1, LOC126807195 (M440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252416	NM_001371116.1(FHDC1):c.1370A>G (p.Asn457Ser)	FHDC1, LOC126807195 (N457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345832	NM_001371116.1(FHDC1):c.1393G>A (p.Asp465Asn)	FHDC1 (D465N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094898	NM_001371116.1(FHDC1):c.1397G>A (p.Arg466Gln)	FHDC1 (R466Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403145	NM_001371116.1(FHDC1):c.1453C>T (p.Arg485Cys)	FHDC1 (R485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278775	NM_001371116.1(FHDC1):c.1457C>G (p.Ser486Cys)	FHDC1 (S486C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495723	NM_001371116.1(FHDC1):c.1473G>T (p.Glu491Asp)	FHDC1 (E491D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278777	NM_001371116.1(FHDC1):c.1532G>C (p.Gly511Ala)	FHDC1 (G511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783427	NM_001371116.1(FHDC1):c.1543C>A (p.Leu515Met)	FHDC1 (L515M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2617068	NM_001371116.1(FHDC1):c.1562C>T (p.Pro521Leu)	FHDC1 (P521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094899	NM_001371116.1(FHDC1):c.1601C>T (p.Pro534Leu)	FHDC1 (P534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365453	NM_001371116.1(FHDC1):c.1601C>G (p.Pro534Arg)	FHDC1 (P534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305262	NM_001371116.1(FHDC1):c.1613G>A (p.Arg538His)	FHDC1 (R538H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381417	NM_001371116.1(FHDC1):c.1618C>T (p.Arg540Cys)	FHDC1 (R540C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094900	NM_001371116.1(FHDC1):c.1627C>A (p.Leu543Met)	FHDC1 (L543M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094901	NM_001371116.1(FHDC1):c.1637C>T (p.Ser546Phe)	FHDC1 (S546F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278773	NM_001371116.1(FHDC1):c.1658C>T (p.Thr553Ile)	FHDC1 (T553I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249615	NM_001371116.1(FHDC1):c.1697A>G (p.Asn566Ser)	FHDC1 (N566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234237	NM_001371116.1(FHDC1):c.1816G>A (p.Gly606Arg)	FHDC1 (G606R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409782	NM_001371116.1(FHDC1):c.1831G>A (p.Ala611Thr)	FHDC1 (A611T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709081	NM_001371116.1(FHDC1):c.1856C>A (p.Ala619Glu)	FHDC1 (A619E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784045	NM_001371116.1(FHDC1):c.1872C>T (p.Ala624=)	FHDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3094903	NM_001371116.1(FHDC1):c.1877A>T (p.Gln626Leu)	FHDC1 (Q626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513556	NM_001371116.1(FHDC1):c.1955C>T (p.Pro652Leu)	FHDC1 (P652L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469231	NM_001371116.1(FHDC1):c.1967G>A (p.Gly656Asp)	FHDC1 (G656D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094904	NM_001371116.1(FHDC1):c.1973C>G (p.Ala658Gly)	FHDC1 (A658G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301369	NM_001371116.1(FHDC1):c.1991C>T (p.Ser664Leu)	FHDC1 (S664L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733415	NM_001371116.1(FHDC1):c.1995A>G (p.Pro665=)	FHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 719487	NM_001371116.1(FHDC1):c.1995A>T (p.Pro665=)	FHDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215991	NM_001371116.1(FHDC1):c.2006G>T (p.Gly669Val)	FHDC1 (G669V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094905	NM_001371116.1(FHDC1):c.2056G>T (p.Gly686Cys)	FHDC1 (G686C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216830	NM_001371116.1(FHDC1):c.2108C>T (p.Pro703Leu)	FHDC1 (P703L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3278778	NM_001371116.1(FHDC1):c.2109G>A (p.Pro703=)	FHDC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2329813	NM_001371116.1(FHDC1):c.2153G>A (p.Ser718Asn)	FHDC1 (S718N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094906	NM_001371116.1(FHDC1):c.2181G>A (p.Met727Ile)	FHDC1 (M727I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336339	NM_001371116.1(FHDC1):c.2197G>A (p.Gly733Arg)	FHDC1 (G733R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256138	NM_001371116.1(FHDC1):c.2198G>T (p.Gly733Val)	FHDC1 (G733V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709082	NM_001371116.1(FHDC1):c.2200A>T (p.Ser734Cys)	FHDC1 (S734C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2376315	NM_001371116.1(FHDC1):c.2236C>T (p.Pro746Ser)	FHDC1 (P746S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458915	NM_001371116.1(FHDC1):c.2239G>A (p.Asp747Asn)	FHDC1 (D747N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743461	NM_001371116.1(FHDC1):c.2248G>A (p.Gly750Arg)	FHDC1 (G750R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3278779	NM_001371116.1(FHDC1):c.2260T>A (p.Leu754Met)	FHDC1 (L754M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278781	NM_001371116.1(FHDC1):c.2284C>T (p.Pro762Ser)	FHDC1 (P762S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233751	NM_001371116.1(FHDC1):c.2306C>T (p.Pro769Leu)	FHDC1 (P769L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094907	NM_001371116.1(FHDC1):c.2336G>A (p.Cys779Tyr)	FHDC1 (C779Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390108	NM_001371116.1(FHDC1):c.2389G>T (p.Asp797Tyr)	FHDC1 (D797Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293156	NM_001371116.1(FHDC1):c.2393C>T (p.Pro798Leu)	FHDC1 (P798L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357687	NM_001371116.1(FHDC1):c.2405G>C (p.Gly802Ala)	FHDC1 (G802A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320823	NM_001371116.1(FHDC1):c.2410G>A (p.Gly804Arg)	FHDC1 (G804R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376307	NM_001371116.1(FHDC1):c.2437G>A (p.Gly813Arg)	FHDC1 (G813R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773458	NM_001371116.1(FHDC1):c.2539G>A (p.Gly847Ser)	FHDC1 (G847S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2378308	NM_001371116.1(FHDC1):c.2581G>C (p.Ala861Pro)	FHDC1 (A861P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249390	NM_001371116.1(FHDC1):c.2621C>G (p.Ala874Gly)	FHDC1 (A874G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406785	NM_001371116.1(FHDC1):c.2623T>G (p.Ser875Ala)	FHDC1 (S875A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229249	NM_001371116.1(FHDC1):c.2626A>C (p.Lys876Gln)	FHDC1 (K876Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591918	NM_001371116.1(FHDC1):c.2632G>C (p.Gly878Arg)	FHDC1 (G878R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251985	NM_001371116.1(FHDC1):c.2635A>C (p.Ser879Arg)	FHDC1 (S879R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603127	NM_001371116.1(FHDC1):c.2645G>A (p.Arg882Gln)	FHDC1 (R882Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363208	NM_001371116.1(FHDC1):c.2668T>G (p.Ser890Ala)	FHDC1 (S890A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613298	NM_001371116.1(FHDC1):c.2675G>A (p.Arg892Gln)	FHDC1 (R892Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568862	NM_001371116.1(FHDC1):c.2678C>A (p.Thr893Asn)	FHDC1 (T893N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321219	NM_001371116.1(FHDC1):c.2697C>G (p.Asn899Lys)	FHDC1 (N899K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529932	NM_001371116.1(FHDC1):c.2774G>C (p.Arg925Pro)	FHDC1 (R925P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536738	NM_001371116.1(FHDC1):c.2809A>G (p.Thr937Ala)	FHDC1 (T937A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621708	NM_001371116.1(FHDC1):c.2849C>A (p.Thr950Lys)	FHDC1 (T950K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494255	NM_001371116.1(FHDC1):c.2951C>G (p.Pro984Arg)	FHDC1 (P984R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278772	NM_001371116.1(FHDC1):c.2974C>A (p.Leu992Ile)	FHDC1 (L992I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283845	NM_001371116.1(FHDC1):c.3041A>C (p.Lys1014Thr)	FHDC1 (K1014T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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