30225[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
Select item 1285858	NM_017986.4(SLC52A1):c.*74T>C	SLC52A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1380929	NM_017986.4(SLC52A1):c.1340G>A (p.Gly447Asp)	SLC52A1 (G447D)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 864587	NM_017986.4(SLC52A1):c.1337G>A (p.Cys446Tyr)	SLC52A1 (C446Y)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1997898	NM_017986.4(SLC52A1):c.1329A>G (p.Val443=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 574646	NM_017986.4(SLC52A1):c.1321G>C (p.Asp441His)	SLC52A1 (D441H)	Single nucleotide variant (missense variant)	Ariboflavinosis +1 more	GLikely benign
Select item 2145860	NM_017986.4(SLC52A1):c.1317A>G (p.Arg439=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 1387527	NM_017986.4(SLC52A1):c.1314C>G (p.Ser438Arg)	SLC52A1 (S438R)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2719740	NM_017986.4(SLC52A1):c.1292del (p.Ser431fs)	SLC52A1 (S431fs)	Deletion (frameshift variant)	Ariboflavinosis	GUncertain significance
Select item 2145604	NM_017986.4(SLC52A1):c.1289C>G (p.Thr430Ser)	SLC52A1 (T430S)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1051019	NM_017986.4(SLC52A1):c.1278G>T (p.Met426Ile)	SLC52A1 (M426I)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1352378	NM_017986.4(SLC52A1):c.1273G>A (p.Ala425Thr)	SLC52A1 (A425T)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2168075	NM_017986.4(SLC52A1):c.1270G>A (p.Gly424Ser)	SLC52A1 (G424S)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1592370	NM_017986.4(SLC52A1):c.1263T>C (p.Leu421=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GBenign
Select item 1166171	NM_017986.4(SLC52A1):c.1263T>A (p.Leu421=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis +1 more	GBenign
Select item 1040478	NM_017986.4(SLC52A1):c.1248A>G (p.Gln416=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 583054	NM_017986.4(SLC52A1):c.1240G>A (p.Ala414Thr)	SLC52A1 (A414T)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 841357	NM_017986.4(SLC52A1):c.1229C>A (p.Ala410Glu)	SLC52A1 (A410E)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2879601	NM_017986.4(SLC52A1):c.1226T>C (p.Leu409Pro)	SLC52A1 (L409P)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1444916	NM_017986.4(SLC52A1):c.1217C>T (p.Pro406Leu)	SLC52A1 (P406L)	Single nucleotide variant (missense variant)	Ariboflavinosis +1 more	GUncertain significance
Select item 2599210	NM_017986.4(SLC52A1):c.1214G>A (p.Arg405Gln)	SLC52A1 (R405Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165173	NM_017986.4(SLC52A1):c.1213C>G (p.Arg405Gly)	SLC52A1 (R405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3014197	NM_017986.4(SLC52A1):c.1210G>A (p.Gly404Ser)	SLC52A1 (G404S)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2060507	NM_017986.4(SLC52A1):c.1188A>C (p.Ala396=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 1396831	NM_017986.4(SLC52A1):c.1187C>A (p.Ala396Glu)	SLC52A1 (A396E)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1371231	NM_017986.4(SLC52A1):c.1181_1182insA (p.Ala395fs)	SLC52A1 (A395fs)	Insertion (frameshift variant)	Ariboflavinosis	GUncertain significance
Select item 737942	NM_017986.4(SLC52A1):c.1173T>C (p.Tyr391=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 1931719	NM_017986.4(SLC52A1):c.1169C>T (p.Ser390Leu)	SLC52A1 (S390L)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2492528	NM_017986.4(SLC52A1):c.1168T>C (p.Ser390Pro)	SLC52A1 (S390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1092363	NM_017986.4(SLC52A1):c.1156C>G (p.Leu386Val)	SLC52A1 (L386V)	Single nucleotide variant (missense variant)	Ariboflavinosis	GLikely benign
Select item 1698839	NM_017986.4(SLC52A1):c.1142_1153del	SLC52A1	Deletion (splice acceptor variant)	Ariboflavinosis	GUncertain significance
Select item 1088787	NM_017986.4(SLC52A1):c.1143G>A (p.Ser381=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 1436230	NM_017986.4(SLC52A1):c.1142C>T (p.Ser381Leu)	SLC52A1 (S381L)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1973457	NM_017986.4(SLC52A1):c.1139T>C (p.Leu380Pro)	SLC52A1 (L380P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1955528	NM_017986.4(SLC52A1):c.1135-10T>A	SLC52A1	Single nucleotide variant (intron variant)	Ariboflavinosis	GLikely benign
Select item 488359	NM_017986.4(SLC52A1):c.1134+11G>A	SLC52A1	Single nucleotide variant (intron variant)	Ariboflavinosis	GBenign
Select item 1591687	NM_017986.4(SLC52A1):c.1134+9G>A	SLC52A1	Single nucleotide variant (intron variant)	Ariboflavinosis	GLikely benign
Select item 2995564	NM_017986.4(SLC52A1):c.1134+6C>T	SLC52A1	Single nucleotide variant (intron variant)	Ariboflavinosis	GUncertain significance
Select item 2072431	NM_017986.4(SLC52A1):c.1122G>A (p.Gly374=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 1079743	NM_017986.4(SLC52A1):c.1107G>T (p.Val369=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 3005325	NM_017986.4(SLC52A1):c.1103del (p.Leu368fs)	SLC52A1 (L368fs)	Deletion (frameshift variant)	Ariboflavinosis	GUncertain significance
Select item 1490900	NM_017986.4(SLC52A1):c.1095C>A (p.Cys365Ter)	SLC52A1 (C365*)	Single nucleotide variant (nonsense)	Ariboflavinosis	GUncertain significance
Select item 2915754	NM_017986.4(SLC52A1):c.1081A>G (p.Ile361Val)	SLC52A1 (I361V)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 662101	NM_017986.4(SLC52A1):c.1062del (p.Tyr355fs)	SLC52A1 (Y355fs)	Deletion (frameshift variant)	Ariboflavinosis	GUncertain significance
Select item 2259081	NM_017986.4(SLC52A1):c.1037C>G (p.Ser346Cys)	SLC52A1 (S346C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1463595	NM_017986.4(SLC52A1):c.1023G>A (p.Gly341=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 842788	NM_017986.4(SLC52A1):c.1014C>A (p.Ser338=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GUncertain significance
Select item 1545509	NM_017986.4(SLC52A1):c.1010+20C>G	SLC52A1	Single nucleotide variant (intron variant)	Ariboflavinosis	GLikely benign
Select item 777112	NM_017986.4(SLC52A1):c.1010+10_1010+19del	SLC52A1	Deletion (intron variant)	Ariboflavinosis	GBenign
Select item 808203	NM_017986.4(SLC52A1):c.1000G>A (p.Val334Met)	SLC52A1 (V334M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2052388	NM_017986.4(SLC52A1):c.991G>C (p.Ala331Pro)	SLC52A1 (A331P)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2109357	NM_017986.4(SLC52A1):c.987C>G (p.Phe329Leu)	SLC52A1 (F329L)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1057081	NM_017986.4(SLC52A1):c.980C>T (p.Ala327Val)	SLC52A1 (A327V)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2237059	NM_017986.4(SLC52A1):c.967G>A (p.Ala323Thr)	SLC52A1 (A323T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2093815	NM_017986.4(SLC52A1):c.952G>C (p.Val318Leu)	SLC52A1 (V318L)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 665487	NM_017986.4(SLC52A1):c.950T>C (p.Val317Ala)	SLC52A1 (V317A)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 799824	NM_017986.4(SLC52A1):c.936C>T (p.Ala312=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 785949	NM_017986.4(SLC52A1):c.929G>A (p.Arg310His)	SLC52A1 (R310H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 527956	NM_017986.4(SLC52A1):c.928C>T (p.Arg310Cys)	SLC52A1 (R310C)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1421561	NM_017986.4(SLC52A1):c.923A>G (p.Tyr308Cys)	SLC52A1 (Y308C)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 853779	NM_017986.4(SLC52A1):c.921C>G (p.Pro307=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GUncertain significance
Select item 2217244	NM_017986.4(SLC52A1):c.920C>T (p.Pro307Leu)	SLC52A1 (P307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2125152	NM_017986.4(SLC52A1):c.914G>C (p.Cys305Ser)	SLC52A1 (C305S)	Single nucleotide variant (missense variant)	Ariboflavinosis +1 more	GUncertain significance
Select item 2068909	NM_017986.4(SLC52A1):c.912C>T (p.Ser304=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 1165476	NM_017986.4(SLC52A1):c.886G>A (p.Val296Met)	SLC52A1 (V296M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2044608	NM_017986.4(SLC52A1):c.885C>T (p.Gly295=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GUncertain significance
Select item 2916758	NM_017986.4(SLC52A1):c.877A>G (p.Thr293Ala)	SLC52A1 (T293A)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 644808	NM_017986.4(SLC52A1):c.874G>A (p.Val292Met)	SLC52A1 (V292M)	Single nucleotide variant (missense variant)	Ariboflavinosis +1 more	GUncertain significance
Select item 1006129	NM_017986.4(SLC52A1):c.866C>T (p.Thr289Ile)	SLC52A1 (T289I)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2072243	NM_017986.4(SLC52A1):c.844CTG[3] (p.Leu283_Gly284insLeu)	SLC52A1	Microsatellite (inframe_insertion)	Ariboflavinosis	GLikely benign
Select item 1923880	NM_017986.4(SLC52A1):c.844C>T (p.Leu282=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 1003103	NM_017986.4(SLC52A1):c.815A>T (p.His272Leu)	SLC52A1 (H272L)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 684053	NM_017986.4(SLC52A1):c.812C>T (p.Ala271Val)	SLC52A1 (A271V)	Single nucleotide variant (missense variant)	Ariboflavinosis +1 more	GBenign
Select item 2769513	NM_017986.4(SLC52A1):c.804C>T (p.Asp268=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 1053674	NM_017986.4(SLC52A1):c.787A>G (p.Thr263Ala)	SLC52A1 (T263A)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 1039637	NM_017986.4(SLC52A1):c.770C>T (p.Pro257Leu)	SLC52A1 (P257L)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2470941	NM_017986.4(SLC52A1):c.766C>T (p.Pro256Ser)	SLC52A1 (P256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477311	NM_017986.4(SLC52A1):c.760C>G (p.Gln254Glu)	SLC52A1 (Q254E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3165177	NM_017986.4(SLC52A1):c.759G>C (p.Leu253Phe)	SLC52A1 (L253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1400705	NM_017986.4(SLC52A1):c.755C>T (p.Pro252Leu)	SLC52A1 (P252L)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance
Select item 2189151	NM_017986.4(SLC52A1):c.748G>A (p.Ala250Thr)	SLC52A1 (A250T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2799257	NM_017986.4(SLC52A1):c.742G>T (p.Glu248Ter)	SLC52A1 (E248*)	Single nucleotide variant (nonsense)	Ariboflavinosis	GUncertain significance
Select item 1946586	NM_017986.4(SLC52A1):c.733_735del (p.Lys245del)	SLC52A1 (K245del)	Deletion (inframe_deletion)	Ariboflavinosis	GUncertain significance
Select item 2398186	NM_017986.4(SLC52A1):c.733A>G (p.Lys245Glu)	SLC52A1 (K245E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 735822	NM_017986.4(SLC52A1):c.717A>G (p.Gly239=)	SLC52A1	Single nucleotide variant (synonymous variant)	Ariboflavinosis	GLikely benign
Select item 743085	NM_017986.4(SLC52A1):c.711C>T (p.Ser237=)	SLC52A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500929	NM_017986.4(SLC52A1):c.709T>C (p.Ser237Pro)	SLC52A1 (S237P)	Single nucleotide variant (missense variant)	Ariboflavinosis	GUncertain significance

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