9056[geneid] - ClinVar - NCBI

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	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 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 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 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 403461	NM_005015.5(OXA1L):c.1256GCA[5] (p.Ser422dup)	OXA1L, SLC7A7	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 6215	NC_000014.9:g.22772520_22777166del	OXA1L, SLC7A7	Deletion	Lysinuric protein intolerance	GPathogenic
Select item 312805	NM_003982.4(SLC7A7):c.323_326dup	SLC7A7	Duplication (3 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 882078	NM_003982.4(SLC7A7):c.*272C>T	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 312806	NM_003982.4(SLC7A7):c.*246G>C	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 882079	NM_003982.4(SLC7A7):c.*235G>C	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 882080	NM_003982.4(SLC7A7):c.*227G>A	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 882081	NM_003982.4(SLC7A7):c.*225G>A	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 882082	NM_003982.4(SLC7A7):c.*205A>C	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1344936	NM_003982.4(SLC7A7):c.*145del	SLC7A7	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 312807	NM_003982.4(SLC7A7):c.*141T>G	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Lysinuric protein intolerance	GLikely benign
Select item 1344935	NM_003982.4(SLC7A7):c.*134A>G	SLC7A7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 883231	NM_003982.4(SLC7A7):c.*114C>T	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 643157	NC_000014.9:g.(?_22773590)_(22813418_?)del	SLC7A7, LOC130055319 +5 more	Deletion	Lysinuric protein intolerance	GPathogenic
Select item 529506	NC_000014.9:g.(?_22773590)_(22776338_?)del	SLC7A7	Deletion	Lysinuric protein intolerance	GPathogenic
Select item 312808	NM_003982.4(SLC7A7):c.*16C>T	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 391214	NM_003982.4(SLC7A7):c.*8C>G	SLC7A7	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1705066	NM_003982.4(SLC7A7):c.1533_1536del (p.Asn511fs)	SLC7A7 (N511fs)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 583991	NC_000014.9:g.(?_22773610)_(22776318_?)del	SLC7A7	Deletion	Lysinuric protein intolerance	GPathogenic
Select item 1093590	NM_003982.4(SLC7A7):c.1535A>G (p.Ter512=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3016144	NM_003982.4(SLC7A7):c.1533C>T (p.Asn511=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 139197	NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1657116	NM_003982.4(SLC7A7):c.1524C>G (p.Pro508=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1962332	NM_003982.4(SLC7A7):c.1521T>C (p.Asp507=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1511803	NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly)	SLC7A7 (D507G)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 834451	NM_003982.4(SLC7A7):c.1507_1517del (p.Pro503fs)	SLC7A7 (P503fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GUncertain significance
Select item 2084250	NM_003982.4(SLC7A7):c.1516C>T (p.Arg506Trp)	SLC7A7 (R506W)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1091395	NM_003982.4(SLC7A7):c.1516C>A (p.Arg506=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1084626	NM_003982.4(SLC7A7):c.1515A>G (p.Gln505=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2298196	NM_003982.4(SLC7A7):c.1511A>T (p.Lys504Met)	SLC7A7 (K504M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1378956	NM_003982.4(SLC7A7):c.1505T>C (p.Met502Thr)	SLC7A7 (M502T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 991468	NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 312809	NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GConflicting classifications of pathogenicity
Select item 2151575	NM_003982.4(SLC7A7):c.1489G>A (p.Glu497Lys)	SLC7A7 (E497K)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1504776	NM_003982.4(SLC7A7):c.1481T>C (p.Met494Thr)	SLC7A7 (M494T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1648065	NM_003982.4(SLC7A7):c.1476A>G (p.Ala492=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1411295	NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu)	SLC7A7 (V490L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1533249	NM_003982.4(SLC7A7):c.1467A>T (p.Ser489=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 56362	NM_003982.4(SLC7A7):c.1465T>C (p.Ser489Pro)	SLC7A7 (S489P)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 1358175	NM_003982.4(SLC7A7):c.1463T>C (p.Met488Thr)	SLC7A7 (M488T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 2678982	NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)	SLC7A7 (C487*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2097062	NM_003982.4(SLC7A7):c.1461T>C (p.Cys487=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1374916	NM_003982.4(SLC7A7):c.1460G>A (p.Cys487Tyr)	SLC7A7 (C487Y)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 56361	NM_003982.4(SLC7A7):c.1460del (p.Cys487fs)	SLC7A7 (C487fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2752992	NM_003982.4(SLC7A7):c.1458G>A (p.Leu486=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1095088	NM_003982.4(SLC7A7):c.1458G>C (p.Leu486=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1400244	NM_003982.4(SLC7A7):c.1457T>C (p.Leu486Pro)	SLC7A7 (L486P)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1520950	NM_003982.4(SLC7A7):c.1453G>A (p.Val485Ile)	SLC7A7 (V485I)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1156630	NM_003982.4(SLC7A7):c.1452G>A (p.Gln484=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1024323	NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg)	SLC7A7 (Q484R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1618641	NM_003982.4(SLC7A7):c.1449C>T (p.Leu483=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2152673	NM_003982.4(SLC7A7):c.1443G>T (p.Arg481Ser)	SLC7A7 (R481S)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1907617	NM_003982.4(SLC7A7):c.1443G>A (p.Arg481=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2339177	NM_003982.4(SLC7A7):c.1436C>T (p.Ala479Val)	SLC7A7 (A479V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 971879	NM_003982.4(SLC7A7):c.1436C>G (p.Ala479Gly)	SLC7A7 (A479G)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 749184	NM_003982.4(SLC7A7):c.1431G>A (p.Gly477=)	SLC7A7	Single nucleotide variant (synonymous variant)	SLC7A7-related condition +1 more	GLikely benign
Select item 991469	NM_003982.4(SLC7A7):c.1430-4G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GUncertain significance
Select item 2170934	NM_003982.4(SLC7A7):c.1430-8_1430-7del	SLC7A7	Microsatellite (intron variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3005027	NM_003982.4(SLC7A7):c.1430-8C>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 1625208	NM_003982.4(SLC7A7):c.1430-8C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance +1 more	GLikely benign
Select item 1542981	NM_003982.4(SLC7A7):c.1430-14dup	SLC7A7	Duplication (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 1571019	NM_003982.4(SLC7A7):c.1430-18T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 1445370	NM_003982.4(SLC7A7):c.1430-20A>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1180590	NM_003982.4(SLC7A7):c.1430-55T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1210653	NM_003982.4(SLC7A7):c.1429+52C>A	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890386	NM_003982.4(SLC7A7):c.1429+19A>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 1661869	NM_003982.4(SLC7A7):c.1429+18A>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2914625	NM_003982.4(SLC7A7):c.1429+15_1429+17del	SLC7A7	Deletion (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2979957	NM_003982.4(SLC7A7):c.1429+15C>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2899755	NM_003982.4(SLC7A7):c.1429+12A>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2830738	NM_003982.4(SLC7A7):c.1429+11C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2001722	NM_003982.4(SLC7A7):c.1429+10G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 1108069	NM_003982.4(SLC7A7):c.1429+9T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 1127945	NM_003982.4(SLC7A7):c.1429+8G>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 785737	NM_003982.4(SLC7A7):c.1429+8G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 751352	NM_003982.4(SLC7A7):c.1429+7C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 1999250	NM_003982.4(SLC7A7):c.1429+2T>C	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic
Select item 2886233	NM_003982.4(SLC7A7):c.1429+1G>C	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic
Select item 512990	NM_003982.4(SLC7A7):c.1425C>T (p.Ile475=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2161888	NM_003982.4(SLC7A7):c.1424T>C (p.Ile475Thr)	SLC7A7 (I475T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 2115261	NM_003982.4(SLC7A7):c.1419A>T (p.Arg473=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 56360	NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	SLC7A7 (R473*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2199022	NM_003982.4(SLC7A7):c.1414C>T (p.Leu472Phe)	SLC7A7 (L472F)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 796754	NM_003982.4(SLC7A7):c.1407G>A (p.Pro469=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1980209	NM_003982.4(SLC7A7):c.1406C>G (p.Pro469Arg)	SLC7A7 (P469R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 883232	NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu)	SLC7A7 (P469L)	Single nucleotide variant (missense variant)	SLC7A7-related condition +1 more	GUncertain significance
Select item 312810	NM_003982.4(SLC7A7):c.1405C>T (p.Pro469Ser)	SLC7A7 (P469S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1026425	NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln)	SLC7A7 (R468Q)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 56359	NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	SLC7A7 (R468*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1459477	NM_003982.4(SLC7A7):c.1400del (p.Lys467fs)	SLC7A7 (K467fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 312811	NM_003982.4(SLC7A7):c.1400A>T (p.Lys467Met)	SLC7A7 (K467M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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