10056[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 200

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	MAP2, MARCHF4 +1702 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935810, LOC129935811 +1686 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1664 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1147 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +985 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146029	GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	ACSL3, ACSL3-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 3056152	NM_005687.5(FARSB):c.*4T>C	FARSB	Single nucleotide variant (3 prime UTR variant +1 more)	FARSB-related disorder	GBenign
Select item 1992143	NM_005687.5(FARSB):c.1757G>T (p.Gly586Val)	FARSB (G586V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1164813	NM_005687.5(FARSB):c.1753G>A (p.Val585Ile)	FARSB (V585I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1716057	NM_005687.5(FARSB):c.1750A>G (p.Asn584Asp)	FARSB (N584D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942713	NM_005687.5(FARSB):c.1743A>G (p.Leu581=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3092921	NM_005687.5(FARSB):c.1726A>C (p.Met576Leu)	FARSB (M576L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2414883	NM_005687.5(FARSB):c.1720C>T (p.Leu574=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1931812	NM_005687.5(FARSB):c.1702G>A (p.Val568Ile)	FARSB (V568I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1581206	NM_005687.5(FARSB):c.1701C>T (p.Asp567=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1717480	NM_005687.5(FARSB):c.1693C>T (p.His565Tyr)	FARSB (H565Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939664	NM_005687.5(FARSB):c.1674C>T (p.Val558=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2593802	NM_005687.5(FARSB):c.1672G>A (p.Val558Ile)	FARSB (V558I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2200629	NM_005687.5(FARSB):c.1668A>G (p.Gln556=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2578895	NM_005687.5(FARSB):c.1664G>T (p.Gly555Val)	FARSB (G555V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062972	NM_005687.5(FARSB):c.1651A>G (p.Ile551Val)	FARSB (I551V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1599295	NM_005687.5(FARSB):c.1641A>C (p.Arg547=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1985101	NM_005687.5(FARSB):c.1639C>T (p.Arg547Ter)	FARSB (R547*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2190263	NM_005687.5(FARSB):c.1635C>T (p.Pro545=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1592053	NM_005687.5(FARSB):c.1619-9C>G	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542704	NM_005687.5(FARSB):c.1618+17G>A	FARSB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2056984	NM_005687.5(FARSB):c.1580G>C (p.Gly527Ala)	FARSB (G527A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3092920	NM_005687.5(FARSB):c.1576C>G (p.Pro526Ala)	FARSB (P526A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487083	NM_005687.5(FARSB):c.1574C>T (p.Pro525Leu)	FARSB (P525L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1947676	NM_005687.5(FARSB):c.1529T>G (p.Ile510Ser)	FARSB (I510S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716732	NM_005687.5(FARSB):c.1504T>C (p.Tyr502His)	FARSB (Y502H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2483835	NM_005687.5(FARSB):c.1487A>G (p.His496Arg)	FARSB (H496R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 487456	NM_005687.5(FARSB):c.1486delinsAA (p.His496fs)	FARSB (H496fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 2031401	NM_005687.5(FARSB):c.1483A>C (p.Arg495=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3277731	NM_005687.5(FARSB):c.1464T>G (p.Asp488Glu)	FARSB (D488E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2127707	NM_005687.5(FARSB):c.1462+16C>T	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3092919	NM_005687.5(FARSB):c.1459A>G (p.Thr487Ala)	FARSB (T487A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598536	NM_005687.5(FARSB):c.1458T>A (p.Asn486Lys)	FARSB (N486K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1901513	NM_005687.5(FARSB):c.1443A>G (p.Val481=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1482819	NM_005687.5(FARSB):c.1438A>G (p.Ile480Val)	FARSB (I480V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923179	NM_005687.5(FARSB):c.1431C>A (p.Ile477=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1685813	NM_005687.5(FARSB):c.1408del (p.Leu470fs)	FARSB (L470fs)	Deletion (frameshift variant +1 more)	Rajab interstitial lung disease with brain calcifications 1	GPathogenic
Select item 3277732	NM_005687.5(FARSB):c.1397G>T (p.Arg466Leu)	FARSB (R466L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2191082	NM_005687.5(FARSB):c.1396C>T (p.Arg466Cys)	FARSB (R466C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3092918	NM_005687.5(FARSB):c.1384A>G (p.Ile462Val)	FARSB (I462V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 545642	NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro)	FARSB (T461P)	Single nucleotide variant (missense variant +1 more)	Cerebral calcification +3 more	GPathogenic
Select item 2900707	NM_005687.5(FARSB):c.1374C>T (p.Leu458=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1649359	NM_005687.5(FARSB):c.1345-19T>G	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578896	NM_005687.5(FARSB):c.1327A>G (p.Lys443Glu)	FARSB (K443E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968947	NM_005687.5(FARSB):c.1311C>T (p.Val437=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1531892	NM_005687.5(FARSB):c.1278A>G (p.Lys426=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022010	NM_005687.5(FARSB):c.1257C>G (p.Ser419=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930124	NM_005687.5(FARSB):c.1252-12T>G	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008839	NM_005687.5(FARSB):c.1252-16T>C	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922538	NM_005687.5(FARSB):c.1218C>T (p.Ala406=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 545664	NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln)	FARSB (R401Q)	Single nucleotide variant (missense variant +1 more)	Cerebral calcification +3 more	GPathogenic
Select item 1600496	NM_005687.5(FARSB):c.1201C>A (p.Arg401=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2180115	NM_005687.5(FARSB):c.1171-4dup	FARSB	Duplication (intron variant)	not provided	GBenign
Select item 1166426	NM_005687.5(FARSB):c.1171-4T>C	FARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167271	NM_005687.5(FARSB):c.1170+12C>T	FARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2401815	NM_005687.5(FARSB):c.1168C>G (p.Gln390Glu)	FARSB (Q390E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1596471	NM_005687.5(FARSB):c.1146G>A (p.Pro382=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3277733	NM_005687.5(FARSB):c.1127A>G (p.Asn376Ser)	FARSB (N376S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2893528	NM_005687.5(FARSB):c.1125C>T (p.Asn375=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1311963	NM_005687.5(FARSB):c.1118G>C (p.Gly373Ala)	FARSB (G373A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1356997	NM_005687.5(FARSB):c.1069G>A (p.Asp357Asn)	FARSB (D357N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3277729	NM_005687.5(FARSB):c.1049A>C (p.Glu350Ala)	FARSB (E350A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1465759	NM_005687.5(FARSB):c.1028A>T (p.Asp343Val)	FARSB (D343V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2381767	NM_005687.5(FARSB):c.986A>G (p.Lys329Arg)	FARSB (K329R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1661567	NM_005687.5(FARSB):c.978T>C (p.Asn326=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2021133	NM_005687.5(FARSB):c.963-12T>C	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631777	NM_005687.5(FARSB):c.962+20C>T	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168680	NM_005687.5(FARSB):c.962+11A>G	FARSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2228575	NM_005687.5(FARSB):c.934G>A (p.Asp312Asn)	FARSB (D312N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1518763	NM_005687.5(FARSB):c.923T>C (p.Met308Thr)	FARSB (M308T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 545502	NM_005687.5(FARSB):c.914G>A (p.Arg305Gln)	FARSB (R305Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1599812	NM_005687.5(FARSB):c.909T>C (p.Ala303=)	FARSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1640446	NM_005687.5(FARSB):c.901-15C>T	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640139	NM_005687.5(FARSB):c.901-18A>C	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900363	NM_005687.5(FARSB):c.900+11A>T	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003768	NM_005687.5(FARSB):c.893C>G (p.Thr298Ser)	FARSB (T298S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511922	NM_005687.5(FARSB):c.860C>G (p.Ala287Gly)	FARSB (A287G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 559418	NM_005687.5(FARSB):c.853G>A (p.Glu285Lys)	FARSB (E285K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2289059	NM_005687.5(FARSB):c.850G>A (p.Val284Ile)	FARSB (V284I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1631558	NM_005687.5(FARSB):c.849-16T>C	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 545501	NM_005687.5(FARSB):c.848+1G>A	FARSB	Single nucleotide variant (splice donor variant)	Rajab interstitial lung disease with brain calcifications 1 +1 more	GPathogenic/Likely pathogenic
Select item 2158051	NM_005687.5(FARSB):c.848C>T (p.Thr283Met)	FARSB (T283M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1961908	NM_005687.5(FARSB):c.817A>G (p.Met273Val)	FARSB (M273V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719002	NM_005687.5(FARSB):c.787-12T>G	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957604	NM_005687.5(FARSB):c.786+20A>G	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634302	NM_005687.5(FARSB):c.786+19C>G	FARSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 545655	NM_005687.5(FARSB):c.784A>G (p.Lys262Glu)	FARSB (K262E)	Single nucleotide variant (missense variant +1 more)	Vascular dilatation +3 more	GPathogenic
Select item 487455	NM_005687.5(FARSB):c.767C>T (p.Thr256Met)	FARSB (T256M)	Single nucleotide variant (missense variant +1 more)	Rajab interstitial lung disease with brain calcifications 1	GUncertain significance
Select item 3513097	NM_005687.5(FARSB):c.760G>A (p.Glu254Lys)	FARSB (E254K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 545694	NM_005687.5(FARSB):c.755T>C (p.Phe252Ser)	FARSB (F252S)	Single nucleotide variant (missense variant +1 more)	Rajab interstitial lung disease with brain calcifications +4 more	GPathogenic
Select item 1912249	NM_005687.5(FARSB):c.733A>G (p.Thr245Ala)	FARSB (T245A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1993069	NM_005687.5(FARSB):c.730A>G (p.Ile244Val)	FARSB (I244V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 2