"GeneDx"[submitter] AND "HCFC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 58740	GRCh38/hg38 Xq28(chrX:153769547-154394658)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 58741	GRCh38/hg38 Xq28(chrX:153777340-154397779)x3	ARHGAP4, AVPR2 +66 more	Copy number gain	See cases	GPathogenic
Select item 58742	GRCh38/hg38 Xq28(chrX:153787044-154397779)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 1265668	NM_005334.3(HCFC1):c.*293C>T	HCFC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1326428	NM_005334.3(HCFC1):c.*50G>A	HCFC1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2573711	NM_005334.3(HCFC1):c.6068T>C (p.Met2023Thr)	HCFC1 (M2023T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505724	NM_005334.3(HCFC1):c.6061C>T (p.Pro2021Ser)	HCFC1 (P2021S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704197	NM_005334.3(HCFC1):c.6034C>G (p.Pro2012Ala)	HCFC1 (P2012A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386714	NM_005334.3(HCFC1):c.6005-12C>T	HCFC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 380554	NM_005334.3(HCFC1):c.6005-12C>G	HCFC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 511475	NM_005334.3(HCFC1):c.6005-18C>G	HCFC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1247542	NM_005334.3(HCFC1):c.6005-278C>T	HCFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386062	NM_005334.3(HCFC1):c.6004+14G>A	HCFC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 418244	NM_005334.3(HCFC1):c.5997G>T (p.Trp1999Cys)	HCFC1 (W1999C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804305	NM_005334.3(HCFC1):c.5978C>T (p.Pro1993Leu)	HCFC1 (P1993L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511699	NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 512560	NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1704944	NM_005334.3(HCFC1):c.5944C>T (p.Arg1982Cys)	HCFC1 (R1982C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699507	NM_005334.3(HCFC1):c.5932G>A (p.Ala1978Thr)	HCFC1 (A1978T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180119	NM_005334.3(HCFC1):c.5923A>C (p.Thr1975Pro)	HCFC1 (T1975P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95281	NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2574490	NM_005334.3(HCFC1):c.5828C>G (p.Pro1943Arg)	HCFC1 (P1943R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389016	NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 1311731	NM_005334.3(HCFC1):c.5777A>T (p.Tyr1926Phe)	HCFC1 (Y1926F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311461	NM_005334.3(HCFC1):c.5764G>C (p.Glu1922Gln)	HCFC1 (E1922Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385163	NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1292119	NM_005334.3(HCFC1):c.5704-42C>T	HCFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203231	NM_005334.3(HCFC1):c.5703+70dup	HCFC1	Duplication (intron variant)	not provided	GLikely benign
Select item 3372199	NM_005334.3(HCFC1):c.5615G>A (p.Cys1872Tyr)	HCFC1 (C1872Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506490	NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2574847	NM_005334.3(HCFC1):c.5539G>A (p.Asp1847Asn)	HCFC1 (D1847N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306198	NM_005334.3(HCFC1):c.5537C>G (p.Pro1846Arg)	HCFC1 (P1846R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499249	NM_005334.3(HCFC1):c.5533G>A (p.Val1845Ile)	HCFC1 (V1845I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211136	NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala)	HCFC1 (G1843A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 507155	NM_005334.3(HCFC1):c.5517+16T>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GLikely benign
Select item 382605	NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 429997	NM_005334.3(HCFC1):c.5491C>T (p.Pro1831Ser)	HCFC1 (P1831S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 376762	NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)	HCFC1 (M1806I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1296473	NM_005334.3(HCFC1):c.5380-38T>G	HCFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710906	NM_005334.3(HCFC1):c.5354C>T (p.Ala1785Val)	HCFC1 (A1785V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314068	NM_005334.3(HCFC1):c.5341C>G (p.Leu1781Val)	HCFC1 (L1781V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383911	NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GLikely benign
Select item 3377825	NM_005334.3(HCFC1):c.5332G>A (p.Ala1778Thr)	HCFC1 (A1778T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382078	NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2627249	NM_005334.3(HCFC1):c.5287G>A (p.Ala1763Thr)	HCFC1 (A1763T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 516108	NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)	HCFC1 (N1759S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +2 more	GBenign/Likely benign
Select item 511924	NM_005334.3(HCFC1):c.5261-17A>G	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 1257244	NM_005334.3(HCFC1):c.5261-33A>C	HCFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292542	NM_005334.3(HCFC1):c.5261-41G>A	HCFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510540	NM_005334.3(HCFC1):c.5260+17G>C	HCFC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2580625	NM_005334.3(HCFC1):c.5260+4A>G	HCFC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1331123	NM_005334.3(HCFC1):c.5173G>A (p.Asp1725Asn)	HCFC1 (D1725N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443511	NM_005334.3(HCFC1):c.5171A>G (p.Asn1724Ser)	HCFC1 (N1724S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343105	NM_005334.3(HCFC1):c.5167C>G (p.Leu1723Val)	HCFC1 (L1723V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303522	NM_005334.3(HCFC1):c.5012C>T (p.Ser1671Leu)	HCFC1 (S1671L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503794	NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)	HCFC1	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 392726	NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)	HCFC1 (V1662M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GConflicting classifications of pathogenicity
Select item 429938	NM_005334.3(HCFC1):c.4969G>A (p.Glu1657Lys)	HCFC1 (E1657K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682386	NM_005334.3(HCFC1):c.4942+11G>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 511810	NM_005334.3(HCFC1):c.4942+9C>T	HCFC1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2505042	NM_005334.3(HCFC1):c.4925_4936del (p.Ala1642_Ala1645del)	HCFC1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 507687	NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 423609	NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)	HCFC1 (A1637V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GUncertain significance
Select item 386061	NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1303392	NM_005334.3(HCFC1):c.4807A>G (p.Met1603Val)	HCFC1 (M1603V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314023	NM_005334.3(HCFC1):c.4780G>A (p.Glu1594Lys)	HCFC1 (E1594K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252119	NM_005334.3(HCFC1):c.4737G>T (p.Gln1579His)	HCFC1 (Q1579H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385436	NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 386087	NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 424226	NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)	HCFC1 (T1540I)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +2 more	GConflicting classifications of pathogenicity
Select item 2501511	NM_005334.3(HCFC1):c.4613C>T (p.Ser1538Phe)	HCFC1 (S1538F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572876	NM_005334.3(HCFC1):c.4598A>G (p.Glu1533Gly)	HCFC1 (E1533G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167165	NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 129222	NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)	HCFC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1257053	NM_005334.3(HCFC1):c.4497+304G>A	HCFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240591	NM_005334.3(HCFC1):c.4497+138C>T	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373423	NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)	HCFC1, LOC130068842 (P1492R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 381428	NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3340987	NM_005334.3(HCFC1):c.4445_4446delinsTT (p.Arg1482Leu)	HCFC1, LOC130068842 (R1482L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2429583	NM_005334.3(HCFC1):c.4445G>A (p.Arg1482Gln)	HCFC1, LOC130068842 (R1482Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382802	NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)	HCFC1, LOC130068842 (T1481M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1695722	NM_005334.3(HCFC1):c.4366G>T (p.Val1456Leu)	HCFC1 (V1456L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294378	NM_005334.3(HCFC1):c.4333+91C>T	HCFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512084	NM_005334.3(HCFC1):c.4333+11G>T	HCFC1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 511930	NM_005334.3(HCFC1):c.4275C>T (p.His1425=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2575748	NM_005334.3(HCFC1):c.4237_4239dup (p.Thr1413_Gln1414insThr)	HCFC1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 507429	NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GLikely benign
Select item 95280	NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 390404	NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GLikely benign
Select item 377326	NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)	HCFC1 (V1387M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2501651	NM_005334.3(HCFC1):c.4097_4099del (p.Gly1366_Thr1367delinsAla)	HCFC1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 511003	NM_005334.3(HCFC1):c.4089T>C (p.Thr1363=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 380171	NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=)	HCFC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 507029	NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GLikely benign
Select item 1302040	NM_005334.3(HCFC1):c.4016A>C (p.Asn1339Thr)	HCFC1 (N1339T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 680338	NM_005334.3(HCFC1):c.3975C>T (p.His1325=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GLikely benign

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