NHSL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 153381	GRCh38/hg38 6q24.1(chr6:138373915-138695098)x1	HEBP2, LOC121132708 +14 more	Copy number loss	See cases	GUncertain significance
Select item 2311707	NM_001144060.2(NHSL1):c.4816A>T (p.Ser1606Cys)	NHSL1 (S1610C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199847	NM_001144060.2(NHSL1):c.4742G>A (p.Gly1581Asp)	NHSL1 (G1581D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590739	NM_001144060.2(NHSL1):c.4660G>A (p.Gly1554Arg)	NHSL1 (G1558R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199846	NM_001144060.2(NHSL1):c.4628C>T (p.Ala1543Val)	NHSL1 (A1543V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710994	NM_001144060.2(NHSL1):c.4482C>G (p.Gly1494=)	NHSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2408207	NM_001144060.2(NHSL1):c.4415A>G (p.Asn1472Ser)	NHSL1 (N1472S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464165	NM_001144060.2(NHSL1):c.4370C>A (p.Ser1457Tyr)	NHSL1 (S1457Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199845	NM_001144060.2(NHSL1):c.4367C>T (p.Pro1456Leu)	NHSL1 (P1456L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199844	NM_001144060.2(NHSL1):c.4354T>A (p.Ser1452Thr)	NHSL1 (S1452T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551048	NM_001144060.2(NHSL1):c.4306A>C (p.Met1436Leu)	NHSL1 (M1440L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599436	NM_001144060.2(NHSL1):c.4153C>A (p.Pro1385Thr)	NHSL1 (P1389T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276894	NM_001144060.2(NHSL1):c.4142A>G (p.His1381Arg)	NHSL1 (H1381R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781757	NM_001144060.2(NHSL1):c.4131C>T (p.His1377=)	NHSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474474	NM_001144060.2(NHSL1):c.4046G>A (p.Arg1349Gln)	NHSL1 (R1349Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543674	NM_001144060.2(NHSL1):c.3946G>A (p.Gly1316Arg)	NHSL1 (G1316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199843	NM_001144060.2(NHSL1):c.3902C>T (p.Ala1301Val)	NHSL1 (A1301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335827	NM_001144060.2(NHSL1):c.3848T>G (p.Val1283Gly)	NHSL1 (V1283G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400982	NM_001144060.2(NHSL1):c.3800C>G (p.Ala1267Gly)	NHSL1 (A1267G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199841	NM_001144060.2(NHSL1):c.3662G>T (p.Ser1221Ile)	NHSL1 (S1225I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199840	NM_001144060.2(NHSL1):c.3652G>C (p.Glu1218Gln)	NHSL1 (E1218Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267347	NM_001144060.2(NHSL1):c.3652G>A (p.Glu1218Lys)	NHSL1 (E1218K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199839	NM_001144060.2(NHSL1):c.3646C>A (p.Pro1216Thr)	NHSL1 (P1220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255445	NM_001144060.2(NHSL1):c.3550C>A (p.Pro1184Thr)	NHSL1 (P1184T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199838	NM_001144060.2(NHSL1):c.3491C>G (p.Pro1164Arg)	NHSL1 (P1168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369152	NM_001144060.2(NHSL1):c.3484C>T (p.Arg1162Cys)	NHSL1 (R1162C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240268	NM_001144060.2(NHSL1):c.3452G>A (p.Gly1151Asp)	NHSL1 (G1155D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600805	NM_001144060.2(NHSL1):c.3432C>G (p.Ser1144Arg)	NHSL1 (S1144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480158	NM_001144060.2(NHSL1):c.3407G>T (p.Ser1136Ile)	NHSL1 (S1136I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526926	NM_001144060.2(NHSL1):c.3289G>C (p.Ala1097Pro)	NHSL1 (A1101P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221367	NM_001144060.2(NHSL1):c.3284G>A (p.Arg1095Gln)	NHSL1 (R1099Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367328	NM_001144060.2(NHSL1):c.3266C>T (p.Ala1089Val)	NHSL1 (A1089V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199836	NM_001144060.2(NHSL1):c.3259G>A (p.Ala1087Thr)	NHSL1 (A1091T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409505	NM_001144060.2(NHSL1):c.3193A>T (p.Met1065Leu)	NHSL1 (M1065L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656942	NM_001144060.2(NHSL1):c.3186G>A (p.Arg1062=)	NHSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244039	NM_001144060.2(NHSL1):c.3142C>T (p.Arg1048Trp)	NHSL1 (R1048W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199835	NM_001144060.2(NHSL1):c.3128A>G (p.Gln1043Arg)	NHSL1 (Q1043R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199834	NM_001144060.2(NHSL1):c.3107C>G (p.Pro1036Arg)	NHSL1 (P1036R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199833	NM_001144060.2(NHSL1):c.3071C>G (p.Pro1024Arg)	NHSL1 (P1024R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199832	NM_001144060.2(NHSL1):c.2974C>A (p.Pro992Thr)	NHSL1 (P996T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607455	NM_001144060.2(NHSL1):c.2914C>T (p.Pro972Ser)	NHSL1 (P972S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465410	NM_001144060.2(NHSL1):c.2882A>G (p.Gln961Arg)	NHSL1 (Q961R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199831	NM_001144060.2(NHSL1):c.2877C>G (p.Cys959Trp)	NHSL1 (C959W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199830	NM_001144060.2(NHSL1):c.2858C>A (p.Pro953Gln)	NHSL1 (P957Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604879	NM_001144060.2(NHSL1):c.2731A>G (p.Thr911Ala)	NHSL1 (T911A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199829	NM_001144060.2(NHSL1):c.2656C>T (p.Pro886Ser)	NHSL1 (P890S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611826	NM_001144060.2(NHSL1):c.2651A>G (p.Lys884Arg)	NHSL1 (K884R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656943	NM_001144060.2(NHSL1):c.2619A>G (p.Ser873=)	NHSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3199828	NM_001144060.2(NHSL1):c.2576C>T (p.Pro859Leu)	NHSL1 (P859L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199826	NM_001144060.2(NHSL1):c.2468C>T (p.Thr823Ile)	NHSL1 (T823I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367696	NM_001144060.2(NHSL1):c.2360C>T (p.Thr787Met)	NHSL1 (T787M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223886	NM_001144060.2(NHSL1):c.2356T>G (p.Tyr786Asp)	NHSL1 (Y786D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383079	NM_001144060.2(NHSL1):c.2329A>T (p.Thr777Ser)	NHSL1 (T781S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236383	NM_001144060.2(NHSL1):c.2329A>G (p.Thr777Ala)	NHSL1 (T777A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383078	NM_001144060.2(NHSL1):c.2327A>C (p.Tyr776Ser)	NHSL1 (Y776S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781010	NM_001144060.2(NHSL1):c.2295G>A (p.Ser765=)	NHSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402325	NM_001144060.2(NHSL1):c.2290C>G (p.Pro764Ala)	NHSL1 (P764A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199825	NM_001144060.2(NHSL1):c.2281G>A (p.Gly761Arg)	NHSL1 (G761R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199824	NM_001144060.2(NHSL1):c.2264A>G (p.Asn755Ser)	NHSL1 (N755S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656944	NM_001144060.2(NHSL1):c.2261C>G (p.Pro754Arg)	NHSL1 (P754R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2266350	NM_001144060.2(NHSL1):c.2104G>A (p.Ala702Thr)	NHSL1 (A702T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472921	NM_001144060.2(NHSL1):c.2083G>T (p.Val695Leu)	NHSL1 (V699L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458273	NM_001144060.2(NHSL1):c.2044C>T (p.Arg682Cys)	NHSL1 (R682C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588694	NM_001144060.2(NHSL1):c.1951C>T (p.Arg651Trp)	NHSL1 (R655W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332354	NM_001144060.2(NHSL1):c.1913A>G (p.Asn638Ser)	NHSL1 (N638S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353763	NM_001144060.2(NHSL1):c.1906G>A (p.Val636Met)	NHSL1 (V640M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364114	NM_001144060.2(NHSL1):c.1798T>C (p.Tyr600His)	NHSL1 (Y600H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199823	NM_001144060.2(NHSL1):c.1792T>C (p.Ser598Pro)	NHSL1 (S598P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604677	NM_001144060.2(NHSL1):c.1769C>A (p.Thr590Lys)	NHSL1 (T590K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199822	NM_001144060.2(NHSL1):c.1691C>T (p.Ser564Phe)	NHSL1 (S564F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288043	NM_001144060.2(NHSL1):c.1688C>T (p.Ala563Val)	NHSL1 (A563V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511743	NM_001144060.2(NHSL1):c.1660G>C (p.Glu554Gln)	NHSL1 (E554Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516935	NM_001144060.2(NHSL1):c.1610G>C (p.Ser537Thr)	NHSL1 (S537T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602839	NM_001144060.2(NHSL1):c.1597G>A (p.Val533Met)	NHSL1 (V533M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781011	NM_001144060.2(NHSL1):c.1551G>A (p.Pro517=)	NHSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2617292	NM_001144060.2(NHSL1):c.1505C>G (p.Pro502Arg)	NHSL1 (P502R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403658	NM_001144060.2(NHSL1):c.1468G>A (p.Glu490Lys)	NHSL1 (E494K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199821	NM_001144060.2(NHSL1):c.1427C>T (p.Ala476Val)	NHSL1 (A480V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350331	NM_001144060.2(NHSL1):c.1424A>G (p.His475Arg)	NHSL1 (H475R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709770	NM_001144060.2(NHSL1):c.1401C>T (p.Pro467=)	NHSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3199820	NM_001144060.2(NHSL1):c.1363A>G (p.Ile455Val)	NHSL1 (I455V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265618	NM_001144060.2(NHSL1):c.1328C>T (p.Ser443Leu)	NHSL1 (S443L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460140	NM_001144060.2(NHSL1):c.1322C>T (p.Ser441Phe)	NHSL1 (S441F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381027	NM_001144060.2(NHSL1):c.1306C>T (p.Arg436Trp)	NHSL1 (R436W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225531	NM_001144060.2(NHSL1):c.1301G>C (p.Gly434Ala)	NHSL1 (G438A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199819	NM_001144060.2(NHSL1):c.1298C>T (p.Ala433Val)	NHSL1 (A433V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342430	NM_001144060.2(NHSL1):c.1270G>T (p.Val424Phe)	NHSL1 (V424F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402043	NM_001144060.2(NHSL1):c.1191C>G (p.Ser397Arg)	NHSL1 (S401R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553850	NM_001144060.2(NHSL1):c.1171G>A (p.Glu391Lys)	NHSL1 (E391K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384077	NM_001144060.2(NHSL1):c.1033G>A (p.Gly345Ser)	NHSL1 (G349S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268801	NM_001144060.2(NHSL1):c.980G>T (p.Arg327Leu)	NHSL1 (R327L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621014	NM_001144060.2(NHSL1):c.947T>C (p.Leu316Pro)	NHSL1 (L316P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552750	NM_001144060.2(NHSL1):c.903G>A (p.Met301Ile)	NHSL1 (M301I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340637	NM_001144060.2(NHSL1):c.836T>C (p.Ile279Thr)	NHSL1 (I279T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364814	NM_001144060.2(NHSL1):c.814G>A (p.Val272Ile)	NHSL1 (V272I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681437	NM_001144060.2(NHSL1):c.798G>A (p.Thr266=)	NHSL1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign

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