SASH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	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 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 147845	GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1	GINM1, KATNA1 +69 more	Copy number loss	See cases	GPathogenic
Select item 2372850	NM_015278.5(SASH1):c.32C>T (p.Pro11Leu)	SASH1 (P11L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1290003	NM_015278.5(SASH1):c.45CGAGCC[3] (p.12EP[7])	SASH1	Microsatellite (5 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 2346981	NM_015278.5(SASH1):c.79C>G (p.Pro27Ala)	SASH1 (P27A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2265162	NM_015278.5(SASH1):c.80C>G (p.Pro27Arg)	SASH1 (P27R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3157884	NM_015278.5(SASH1):c.103G>C (p.Ala35Pro)	SASH1 (A35P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3051692	NM_015278.5(SASH1):c.111A>G (p.Thr37=)	SASH1	Single nucleotide variant (5 prime UTR variant +2 more)	SASH1-related disorder	GLikely benign
Select item 3157886	NM_015278.5(SASH1):c.115G>A (p.Glu39Lys)	SASH1 (E39K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3157888	NM_015278.5(SASH1):c.148G>C (p.Gly50Arg)	SASH1 (G50R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1251256	NM_015278.5(SASH1):c.156+45G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 753771	NM_015278.5(SASH1):c.159C>T (p.Asp53=)	SASH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3157889	NM_015278.5(SASH1):c.160G>A (p.Gly54Ser)	SASH1 (G9S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411147	NM_015278.5(SASH1):c.181G>A (p.Asp61Asn)	SASH1 (D16N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269055	NM_015278.5(SASH1):c.194A>G (p.Gln65Arg)	SASH1 (Q20R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157894	NM_015278.5(SASH1):c.229G>T (p.Val77Leu)	SASH1 (V32L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 738412	NM_015278.5(SASH1):c.231G>A (p.Val77=)	SASH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656983	NM_015278.5(SASH1):c.258A>G (p.Lys86=)	SASH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1269216	NM_015278.5(SASH1):c.285+284A>G	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288999	NM_015278.5(SASH1):c.286-281G>T	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223255	NM_015278.5(SASH1):c.286-281G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3157896	NM_015278.5(SASH1):c.308C>T (p.Thr103Met)	SASH1 (T103M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305764	NM_015278.5(SASH1):c.323G>A (p.Arg108Gln)	SASH1 (R108Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716141	NM_015278.5(SASH1):c.328C>G (p.Gln110Glu)	SASH1 (Q110E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3157899	NM_015278.5(SASH1):c.329A>C (p.Gln110Pro)	SASH1 (Q65P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1289486	NM_015278.5(SASH1):c.337-38G>C	SASH1	Single nucleotide variant (intron variant)	Dyschromatosis universalis hereditaria 1 +2 more	GBenign
Select item 738413	NM_015278.5(SASH1):c.337-4G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277368	NM_015278.5(SASH1):c.386+60C>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178930	NM_015278.5(SASH1):c.387-311G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276804	NM_015278.5(SASH1):c.387-265T>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271532	NM_015278.5(SASH1):c.387-203T>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306772	NM_015278.5(SASH1):c.401A>T (p.Lys134Ile)	SASH1 (K10I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277123	NM_015278.5(SASH1):c.427+212C>G	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3039458	NM_015278.5(SASH1):c.428-4dup	SASH1	Duplication (intron variant)	SASH1-related disorder	GLikely benign
Select item 3044641	NM_015278.5(SASH1):c.428-9_428-4del	SASH1	Deletion (intron variant)	SASH1-related disorder	GLikely benign
Select item 3044141	NM_015278.5(SASH1):c.428-10_428-4del	SASH1	Deletion (intron variant)	SASH1-related disorder	GLikely benign
Select item 3039882	NM_015278.5(SASH1):c.428-18_428-4del	SASH1	Deletion (intron variant)	SASH1-related disorder	GLikely benign
Select item 1284039	NM_015278.5(SASH1):c.428-6_428-4del	SASH1	Deletion (intron variant)	not provided	GBenign
Select item 1279568	NM_015278.5(SASH1):c.428-7_428-4del	SASH1	Deletion (intron variant)	not provided	GBenign
Select item 1260605	NM_015278.5(SASH1):c.428-5_428-4del	SASH1	Deletion (intron variant)	not provided	GBenign
Select item 3046567	NM_015278.5(SASH1):c.428-4T>G	SASH1	Single nucleotide variant (intron variant)	SASH1-related disorder	GLikely benign
Select item 2317601	NM_015278.5(SASH1):c.466C>A (p.Gln156Lys)	SASH1 (Q111K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1283799	NM_015278.5(SASH1):c.492A>G (p.Gly164=)	SASH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1239414	NM_015278.5(SASH1):c.514+213T>G	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178687	NM_015278.5(SASH1):c.515-113A>G	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2268646	NM_015278.5(SASH1):c.540T>A (p.Ser180Arg)	SASH1 (S135R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535137	NM_015278.5(SASH1):c.541G>A (p.Glu181Lys)	SASH1 (E136K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402499	NM_015278.5(SASH1):c.548C>T (p.Thr183Met)	SASH1 (T138M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039653	NM_015278.5(SASH1):c.549G>C (p.Thr183=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related disorder	GLikely benign
Select item 2237589	NM_015278.5(SASH1):c.554G>A (p.Ser185Asn)	SASH1 (S61N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593271	NM_015278.5(SASH1):c.589A>G (p.Lys197Glu)	SASH1 (K197E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1222344	NM_015278.5(SASH1):c.627+114T>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228201	NM_015278.5(SASH1):c.628-338G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279206	NM_015278.5(SASH1):c.628-126G>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281530	NM_015278.5(SASH1):c.628-119G>T	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3157904	NM_015278.5(SASH1):c.653G>A (p.Arg218Gln)	SASH1 (R218Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324186	NM_015278.5(SASH1):c.658T>G (p.Ser220Ala)	SASH1 (S96A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404015	NM_015278.5(SASH1):c.724T>C (p.Cys242Arg)	SASH1 (C197R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1252399	NM_015278.5(SASH1):c.729+203G>T	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182400	NM_015278.5(SASH1):c.729+217dup	SASH1	Duplication (intron variant)	not provided	GBenign
Select item 1248293	NM_015278.5(SASH1):c.730-44C>T	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2533671	NM_015278.5(SASH1):c.743C>T (p.Ser248Leu)	SASH1 (S124L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356686	NM_015278.5(SASH1):c.753G>C (p.Glu251Asp)	SASH1 (E127D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1287698	NM_015278.5(SASH1):c.862+50A>G	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271679	NM_015278.5(SASH1):c.862+92_862+97dup	SASH1	Duplication (intron variant)	not provided	GBenign
Select item 2570261	NM_015278.5(SASH1):c.893C>G (p.Pro298Arg)	SASH1 (P18R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721935	NM_015278.5(SASH1):c.900G>C (p.Leu300=)	SASH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532441	NM_015278.5(SASH1):c.908G>A (p.Arg303Gln)	SASH1 (R179Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307949	NM_015278.5(SASH1):c.913G>T (p.Ala305Ser)	SASH1 (A25S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264457	NM_015278.5(SASH1):c.913G>A (p.Ala305Thr)	SASH1 (A25T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057285	NM_015278.5(SASH1):c.927C>T (p.Gly309=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related disorder	GLikely benign
Select item 2208519	NM_015278.5(SASH1):c.952G>A (p.Asp318Asn)	SASH1 (D38N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378119	NM_015278.5(SASH1):c.959C>T (p.Ser320Phe)	SASH1 (S81F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388912	NM_015278.5(SASH1):c.1031G>C (p.Trp344Ser)	SASH1 (W64S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157885	NM_015278.5(SASH1):c.1078C>T (p.Arg360Trp)	SASH1 (R315W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627186	NM_015278.5(SASH1):c.1097C>A (p.Pro366His)	SASH1 (P127H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656984	NM_015278.5(SASH1):c.1118dup (p.Ser374fs)	SASH1 (S135fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2592128	NM_015278.5(SASH1):c.1146G>C (p.Gln382His)	SASH1 (Q258H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287015	NM_015278.5(SASH1):c.1157G>A (p.Arg386His)	SASH1 (R147H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041854	NM_015278.5(SASH1):c.1160C>T (p.Ser387Phe)	SASH1 (S107F +4 more)	Single nucleotide variant (missense variant)	SASH1-related disorder	GLikely benign
Select item 1263475	NM_015278.5(SASH1):c.1191C>T (p.Leu397=)	SASH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3042903	NM_015278.5(SASH1):c.1192G>A (p.Gly398Arg)	SASH1 (G118R +4 more)	Single nucleotide variant (missense variant)	SASH1-related disorder	GLikely benign
Select item 3055267	NM_015278.5(SASH1):c.1209+436G>A	SASH1 (A269T +1 more)	Single nucleotide variant (missense variant +1 more)	SASH1-related disorder	GBenign
Select item 3042287	NM_015278.5(SASH1):c.1209+441G>A	SASH1	Single nucleotide variant (synonymous variant +1 more)	SASH1-related disorder	GLikely benign
Select item 2656985	NM_015278.5(SASH1):c.1209+444C>T	SASH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1232124	NM_015278.5(SASH1):c.1210-292T>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290700	NM_015278.5(SASH1):c.1210-262dup	SASH1	Duplication (intron variant)	not provided	GBenign
Select item 2459569	NM_015278.5(SASH1):c.1213A>G (p.Thr405Ala)	SASH1 (T329A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613383	NM_015278.5(SASH1):c.1217G>A (p.Cys406Tyr)	SASH1 (C167Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157887	NM_015278.5(SASH1):c.1240A>T (p.Thr414Ser)	SASH1 (T175S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741475	NM_015278.5(SASH1):c.1242G>A (p.Thr414=)	SASH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619853	NM_015278.5(SASH1):c.1303G>T (p.Val435Leu)	SASH1 (V311L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310507	NM_015278.5(SASH1):c.1369G>A (p.Val457Met)	SASH1 (V381M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734997	NM_015278.5(SASH1):c.1371G>A (p.Val457=)	SASH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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