"GeneDx"[submitter] AND "SASH1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1251256	NM_015278.5(SASH1):c.156+45G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1289486	NM_015278.5(SASH1):c.337-38G>C	SASH1	Single nucleotide variant (intron variant)	Dyschromatosis universalis hereditaria 1 +2 more	GBenign
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 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 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 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 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 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 1263475	NM_015278.5(SASH1):c.1191C>T (p.Leu397=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related condition +1 more	GBenign
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 1287804	NM_015278.5(SASH1):c.1428+187C>T	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239979	NM_015278.5(SASH1):c.1428+264A>G	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253204	NM_015278.5(SASH1):c.1429-271T>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305316	NM_015278.5(SASH1):c.1477G>A (p.Asp493Asn)	SASH1 (D254N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232944	NM_015278.5(SASH1):c.1565-66T>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259602	NM_015278.5(SASH1):c.1734+260G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221727	NM_015278.5(SASH1):c.1735-124T>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286520	NM_015278.5(SASH1):c.1735-37G>C	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663622	NM_015278.5(SASH1):c.1777A>G (p.Thr593Ala)	SASH1 (T354A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282722	NM_015278.5(SASH1):c.1812G>A (p.Thr604=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related condition +1 more	GBenign
Select item 1285745	NM_015278.5(SASH1):c.2209+24G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257635	NM_015278.5(SASH1):c.2651A>G (p.Gln884Arg)	SASH1 (Q645R +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1315337	NM_015278.5(SASH1):c.3079G>A (p.Ala1027Thr)	SASH1 (A1027T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308776	NM_015278.5(SASH1):c.3190C>T (p.Leu1064Phe)	SASH1 (L1019F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872147	NM_015278.5(SASH1):c.3236C>T (p.Pro1079Leu)	SASH1 (P1003L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783757	NM_015278.5(SASH1):c.3266G>A (p.Arg1089Gln)	SASH1 (R1044Q +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1285850	NM_015278.5(SASH1):c.3348+137A>G	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308237	NM_015278.5(SASH1):c.3415C>T (p.Arg1139Trp)	SASH1 (R1015W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183052	NM_015278.5(SASH1):c.3481-61G>A	SASH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224018	NM_015278.5(SASH1):c.*216C>T	SASH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 50