SCFD1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	ADCY4, AKAP6 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 976653	NM_016106.4(SCFD1):c.209T>C (p.Ile70Thr)	SCFD1 (I3T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	SCFD1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2494784	NM_016106.4(SCFD1):c.259C>T (p.Pro87Ser)	SCFD1 (P20S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225285	NM_016106.4(SCFD1):c.355A>G (p.Ile119Val)	SCFD1 (I116V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527590	NM_016106.4(SCFD1):c.364A>G (p.Ile122Val)	SCFD1 (I119V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345533	NM_016106.4(SCFD1):c.598T>C (p.Phe200Leu)	SCFD1 (F133L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271149	NM_016106.4(SCFD1):c.625A>G (p.Ile209Val)	SCFD1 (I150V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616394	NM_016106.4(SCFD1):c.733A>G (p.Thr245Ala)	SCFD1 (T60A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716383	NM_016106.4(SCFD1):c.755+7C>T	SCFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2374353	NM_016106.4(SCFD1):c.827C>T (p.Thr276Ile)	SCFD1 (T184I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 2369481	NM_016106.4(SCFD1):c.917G>A (p.Gly306Asp)	SCFD1 (G214D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535416	NM_016106.4(SCFD1):c.1264T>G (p.Phe422Val)	SCFD1 (F355V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981027	NM_016106.4(SCFD1):c.1297A>G (p.Thr433Ala)	SCFD1 (T248A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2613768	NM_016106.4(SCFD1):c.1445A>G (p.Asp482Gly)	SCFD1 (D297G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248187	NM_016106.4(SCFD1):c.1456A>C (p.Asn486His)	SCFD1 (N394H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270894	NM_016106.4(SCFD1):c.1492G>A (p.Ala498Thr)	SCFD1 (A313T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271821	NM_016106.4(SCFD1):c.1507G>A (p.Ala503Thr)	SCFD1 (A411T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306347	NM_016106.4(SCFD1):c.1511C>T (p.Ser504Leu)	SCFD1 (S319L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620527	NM_016106.4(SCFD1):c.1759C>T (p.Pro587Ser)	SCFD1 (P520S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304067	NM_016106.4(SCFD1):c.1829A>G (p.Tyr610Cys)	SCFD1 (Y425C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523806	NM_016106.4(SCFD1):c.1847G>A (p.Gly616Asp)	SCFD1 (G431D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564229	NM_016106.4(SCFD1):c.1855A>C (p.Ile619Leu)	SCFD1 (I619L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522293	NM_016106.4(SCFD1):c.1903C>G (p.Gln635Glu)	SCFD1 (Q576E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684716	GRCh37/hg19 14q12(chr14:30864574-31106393)x3	G2E3, SCFD1	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 997966	GRCh37/hg19 14q12(chr14:27450705-31529481)x3	AP4S1, COCH +5 more	Copy number gain	Epilepsy +1 more	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 688414	GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1	AKAP6, AP4S1 +14 more	Copy number loss	not provided	GPathogenic
Select item 564089	GRCh37/hg19 14q12(chr14:31130371-31193211)x1	SCFD1	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic

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Items: 47