26953[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57894	GRCh38/hg38 4q27(chr4:121636147-122327601)x3	LOC126807144, LOC126807145 +22 more	Copy number gain	See cases	GUncertain significance
Select item 1278856	NM_001384125.1(BLTP1):c.-33-92C>T	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041193	NM_001384125.1(BLTP1):c.15G>A (p.Lys5=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1235578	NM_001384125.1(BLTP1):c.98-174C>T	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2615259	NM_001384125.1(BLTP1):c.143A>C (p.Asn48Thr)	BLTP1 (N48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301723	NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp)	BLTP1 (R50W)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome +1 more	GUncertain significance
Select item 3044913	NM_001384125.1(BLTP1):c.165T>C (p.Ile55=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 776015	NM_001384125.1(BLTP1):c.214+8T>G	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1257164	NM_001384125.1(BLTP1):c.215-200A>G	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231351	NM_001384125.1(BLTP1):c.215-26C>T	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2134895	NM_001384125.1(BLTP1):c.247del (p.Val83fs)	BLTP1 (V83fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3351344	NM_001384125.1(BLTP1):c.261A>G (p.Glu87=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1338126	NM_001384125.1(BLTP1):c.283A>G (p.Met95Val)	BLTP1 (M95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229274	NM_001384125.1(BLTP1):c.293+82G>C	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294831	NM_001384125.1(BLTP1):c.294-167C>T	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3134191	NM_001384125.1(BLTP1):c.330A>C (p.Lys110Asn)	BLTP1 (K110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589885	NM_001384125.1(BLTP1):c.339C>A (p.Asn113Lys)	BLTP1 (N113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040802	NM_001384125.1(BLTP1):c.408T>C (p.Phe136=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3134199	NM_001384125.1(BLTP1):c.410A>G (p.His137Arg)	BLTP1 (H137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536427	NM_001384125.1(BLTP1):c.428A>G (p.Asp143Gly)	BLTP1 (D143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523045	NM_001384125.1(BLTP1):c.439C>T (p.Arg147Cys)	BLTP1 (R147C)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 3134204	NM_001384125.1(BLTP1):c.472A>G (p.Ile158Val)	BLTP1 (I158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1313373	NM_001384125.1(BLTP1):c.505C>T (p.Arg169Trp)	BLTP1 (R169W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3134212	NM_001384125.1(BLTP1):c.512T>C (p.Ile171Thr)	BLTP1 (I171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809676	NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg)	BLTP1 (P192R)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3134218	NM_001384125.1(BLTP1):c.591A>T (p.Arg197Ser)	BLTP1 (R197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662574	NM_001384125.1(BLTP1):c.613G>A (p.Val205Ile)	BLTP1 (V205I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3134221	NM_001384125.1(BLTP1):c.625A>C (p.Thr209Pro)	BLTP1 (T209P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252960	NM_001384125.1(BLTP1):c.627+95G>A	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244796	NM_001384125.1(BLTP1):c.628-31A>G	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225661	NM_001384125.1(BLTP1):c.628-3del	BLTP1	Deletion (intron variant)	not provided	GBenign
Select item 3134226	NM_001384125.1(BLTP1):c.632G>A (p.Arg211His)	BLTP1 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 451549	NM_001384125.1(BLTP1):c.648T>G (p.Asn216Lys)	BLTP1 (N216K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046186	NM_001384125.1(BLTP1):c.660G>T (p.Pro220=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 786521	NM_001384125.1(BLTP1):c.660G>A (p.Pro220=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 451548	NM_001384125.1(BLTP1):c.683A>G (p.Asp228Gly)	BLTP1 (D228G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978675	NM_001384125.1(BLTP1):c.692del (p.Phe231fs)	BLTP1 (F231fs)	Deletion (frameshift variant)	Clubfoot +2 more	GLikely pathogenic
Select item 3134237	NM_001384125.1(BLTP1):c.697A>G (p.Thr233Ala)	BLTP1 (T233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134236	NM_001384125.1(BLTP1):c.697A>C (p.Thr233Pro)	BLTP1 (T233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035676	NM_001384125.1(BLTP1):c.747T>C (p.Ile249=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 2440988	NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter)	BLTP1 (R258*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 3261100	NM_001384125.1(BLTP1):c.776T>G (p.Val259Gly)	BLTP1 (V259G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1307905	NM_001384125.1(BLTP1):c.793C>T (p.Pro265Ser)	BLTP1 (P265S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1257247	NM_001384125.1(BLTP1):c.821+92A>C	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278829	NM_001384125.1(BLTP1):c.822-199A>G	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1033765	NM_001384125.1(BLTP1):c.822-3T>C	BLTP1	Single nucleotide variant (intron variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433107	NM_001384125.1(BLTP1):c.901+49_901+53dup	BLTP1	Duplication (intron variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1242454	NM_001384125.1(BLTP1):c.901+120C>A	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233381	NM_001384125.1(BLTP1):c.902-32A>G	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2615189	NM_001384125.1(BLTP1):c.904C>T (p.Leu302Phe)	BLTP1 (L302F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326098	NM_001384125.1(BLTP1):c.911C>T (p.Pro304Leu)	BLTP1 (P304L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786522	NM_001384125.1(BLTP1):c.912G>A (p.Pro304=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1878783	NM_001384125.1(BLTP1):c.944T>G (p.Met315Arg)	BLTP1 (M315R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258938	NM_001384125.1(BLTP1):c.946A>G (p.Ser316Gly)	BLTP1 (S316G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 280219	NM_001384125.1(BLTP1):c.997dup (p.Ile333fs)	BLTP1 (I333fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3036832	NM_001384125.1(BLTP1):c.1029T>C (p.Tyr343=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1222085	NM_001384125.1(BLTP1):c.1053-61T>C	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2548434	NM_001384125.1(BLTP1):c.1088A>G (p.Tyr363Cys)	BLTP1 (Y363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723477	NM_001384125.1(BLTP1):c.1123G>A (p.Gly375Arg)	BLTP1 (G375R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930606	NM_001384125.1(BLTP1):c.1156C>T (p.Arg386Ter)	BLTP1 (R386*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 800986	NM_001384125.1(BLTP1):c.1183del (p.Ile395fs)	BLTP1 (I395fs)	Deletion (frameshift variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 3030203	NM_001384125.1(BLTP1):c.1189T>C (p.Leu397=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1271375	NM_001384125.1(BLTP1):c.1209+9T>C	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699628	NM_001384125.1(BLTP1):c.1270A>G (p.Met424Val)	BLTP1 (M424V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541010	NM_001384125.1(BLTP1):c.1272G>A (p.Met424Ile)	BLTP1 (M424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234958	NM_001384125.1(BLTP1):c.1289-119G>A	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3134159	NM_001384125.1(BLTP1):c.1295C>A (p.Thr432Asn)	BLTP1 (T432N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445992	NM_001384125.1(BLTP1):c.1297C>G (p.Pro433Ala)	BLTP1 (P433A)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 3134161	NM_001384125.1(BLTP1):c.1300G>T (p.Ala434Ser)	BLTP1 (A434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504643	NM_001384125.1(BLTP1):c.1310G>A (p.Gly437Glu)	BLTP1 (G437E)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 725103	NM_001384125.1(BLTP1):c.1380+9G>A	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1319759	NM_001384125.1(BLTP1):c.1381-407del	BLTP1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1245730	NM_001384125.1(BLTP1):c.1381-16_1381-12del	BLTP1	Deletion (intron variant)	not provided	GBenign
Select item 804447	NM_001384125.1(BLTP1):c.1381-2A>G	BLTP1	Single nucleotide variant (splice acceptor variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 2533215	NM_001384125.1(BLTP1):c.1410A>G (p.Ile470Met)	BLTP1 (I470M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134169	NM_001384125.1(BLTP1):c.1421C>T (p.Pro474Leu)	BLTP1 (P474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049027	NM_001384125.1(BLTP1):c.1422G>A (p.Pro474=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3134173	NM_001384125.1(BLTP1):c.1459A>T (p.Thr487Ser)	BLTP1 (T487S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 451135	NM_001384125.1(BLTP1):c.1498+4A>G	BLTP1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1294817	NM_001384125.1(BLTP1):c.1498+96A>G	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246544	NM_001384125.1(BLTP1):c.1498+159T>C	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2655063	NM_001384125.1(BLTP1):c.1554A>C (p.Pro518=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 183349	NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)	BLTP1 (Y519*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 1302300	NM_001384125.1(BLTP1):c.1574T>C (p.Ile525Thr)	BLTP1 (I525T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065053	NM_001384125.1(BLTP1):c.1654G>A (p.Val552Met)	BLTP1 (V552M)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1276177	NM_001384125.1(BLTP1):c.1655-117G>A	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3039715	NM_001384125.1(BLTP1):c.1655-11_1655-10del	BLTP1	Deletion (intron variant)	BLTP1-related disorder	GLikely benign
Select item 1294823	NM_001384125.1(BLTP1):c.1655-9C>T	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738101	NM_001384125.1(BLTP1):c.1655-9C>A	BLTP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272527	NM_001384125.1(BLTP1):c.1655-4G>T	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450655	NM_001384125.1(BLTP1):c.1664C>T (p.Ala555Val)	BLTP1 (A555V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3261095	NM_001384125.1(BLTP1):c.1667C>T (p.Ala556Val)	BLTP1 (A556V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469736	NM_001384125.1(BLTP1):c.1709C>T (p.Thr570Met)	BLTP1 (T570M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692503	NM_001384125.1(BLTP1):c.1752+2T>G	BLTP1	Single nucleotide variant (splice donor variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 1270277	NM_001384125.1(BLTP1):c.1752+50T>G	BLTP1	Single nucleotide variant (intron variant)	not provided	GBenign

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