ClinVar for Gene (Select 23328) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3157903	NM_015278.5(SASH1):c.3644C>A (p.Thr1215Asn)	SASH1 (T1098N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157902	NM_015278.5(SASH1):c.3541T>G (p.Ser1181Ala)	SASH1 (S1064A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157900	NM_015278.5(SASH1):c.3505A>G (p.Ile1169Val)	SASH1 (I1169V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3157897	NM_015278.5(SASH1):c.3092G>A (p.Ser1031Asn)	SASH1 (S1031N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3157895	NM_015278.5(SASH1):c.2557G>A (p.Val853Met)	SASH1 (V777M +5 more)	Single nucleotide variant (missense variant)	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 3157893	NM_015278.5(SASH1):c.2299C>T (p.Pro767Ser)	SASH1 (P650S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157892	NM_015278.5(SASH1):c.2286G>T (p.Gln762His)	SASH1 (Q523H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157891	NM_015278.5(SASH1):c.2254G>C (p.Glu752Gln)	SASH1 (E676Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157890	NM_015278.5(SASH1):c.2150T>G (p.Leu717Arg)	SASH1 (L600R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 3069097	NC_000006.11:g.(148867283_148869430)_(148873181_?)dup	SASH1	Duplication	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
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 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 3053806	NM_015278.5(SASH1):c.1464G>A (p.Pro488=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related disorder	GLikely benign
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 3050809	NM_015278.5(SASH1):c.1944+7C>G	SASH1	Single nucleotide variant (intron variant)	SASH1-related disorder	GBenign
Select item 3048953	NM_015278.5(SASH1):c.3519C>T (p.Pro1173=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related disorder	GLikely benign
Select item 3046567	NM_015278.5(SASH1):c.428-4T>G	SASH1	Single nucleotide variant (intron variant)	SASH1-related disorder	GLikely benign
Select item 3045252	NM_015278.5(SASH1):c.2994C>T (p.Asn998=)	SASH1	Single nucleotide variant (synonymous 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 3043190	NM_015278.5(SASH1):c.1880G>A (p.Arg627His)	SASH1 (R388H +5 more)	Single nucleotide variant (missense variant)	SASH1-related disorder	GLikely benign
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 3042287	NM_015278.5(SASH1):c.1209+441G>A	SASH1	Single nucleotide variant (synonymous variant +1 more)	SASH1-related disorder	GLikely benign
Select item 3041898	NM_015278.5(SASH1):c.2482C>T (p.Pro828Ser)	SASH1 (P589S +5 more)	Single nucleotide variant (missense variant)	SASH1-related disorder	GLikely benign
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 3040878	NM_015278.5(SASH1):c.2385G>A (p.Thr795=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related disorder	GBenign
Select item 3039882	NM_015278.5(SASH1):c.428-18_428-4del	SASH1	Deletion (intron variant)	SASH1-related disorder	GLikely benign
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 3039458	NM_015278.5(SASH1):c.428-4dup	SASH1	Duplication (intron variant)	SASH1-related disorder	GLikely benign
Select item 3034266	NM_015278.5(SASH1):c.2631G>A (p.Thr877=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related disorder	GLikely benign
Select item 3029134	NM_015278.5(SASH1):c.3501G>A (p.Thr1167=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related disorder	GLikely benign
Select item 3024990	NM_015278.5(SASH1):c.2745C>A (p.Ile915=)	SASH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2656987	NM_015278.5(SASH1):c.1698C>T (p.Thr566=)	SASH1	Single nucleotide variant (synonymous variant)	SASH1-related disorder +1 more	GBenign/Likely benign
Select item 2656986	NM_015278.5(SASH1):c.1566C>T (p.Ser522=)	SASH1	Single nucleotide variant (synonymous variant)	not provided	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 2656984	NM_015278.5(SASH1):c.1118dup (p.Ser374fs)	SASH1 (S135fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
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 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 2622469	NM_015278.5(SASH1):c.2414C>T (p.Thr805Ile)	SASH1 (T566I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2610274	NM_015278.5(SASH1):c.2579C>T (p.Pro860Leu)	SASH1 (P736L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609722	NM_015278.5(SASH1):c.3634C>G (p.Leu1212Val)	SASH1 (L1095V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607798	NM_015278.5(SASH1):c.2156G>T (p.Gly719Val)	SASH1 (G595V +5 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 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 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 2542715	NM_015278.5(SASH1):c.3191T>C (p.Leu1064Pro)	SASH1 (L1064P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537658	NM_015278.5(SASH1):c.2288T>C (p.Leu763Ser)	SASH1 (L524S +5 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 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 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 2516516	NM_015278.5(SASH1):c.2432G>A (p.Arg811Gln)	SASH1 (R687Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513851	NM_015278.5(SASH1):c.2835G>T (p.Arg945Ser)	SASH1 (R869S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483319	NM_015278.5(SASH1):c.3703G>T (p.Ala1235Ser)	SASH1 (A1159S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472538	NM_015278.5(SASH1):c.3284C>T (p.Thr1095Met)	SASH1 (T1019M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2472035	NM_015278.5(SASH1):c.3568G>A (p.Gly1190Ser)	SASH1 (G951S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460525	NM_015278.5(SASH1):c.3416G>A (p.Arg1139Gln)	SASH1 (R1063Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2455131	NM_015278.5(SASH1):c.2975G>T (p.Ser992Ile)	SASH1 (S753I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444026	NM_015278.5(SASH1):c.1574C>T (p.Thr525Ile)	SASH1 (T286I +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 2435655	NM_015278.5(SASH1):c.3001C>T (p.His1001Tyr)	SASH1 (H1001Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430283	NM_015278.5(SASH1):c.1811C>A (p.Thr604Lys)	SASH1 (T365K +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 2430242	NM_015278.5(SASH1):c.1548T>A (p.Ser516Arg)	SASH1 (S277R +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
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 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 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 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 2387064	NM_015278.5(SASH1):c.2550G>T (p.Glu850Asp)	SASH1 (E774D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381683	NM_015278.5(SASH1):c.3412G>A (p.Glu1138Lys)	SASH1 (E1014K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381037	NM_015278.5(SASH1):c.2188A>G (p.Ser730Gly)	SASH1 (S606G +5 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 2376055	NM_015278.5(SASH1):c.2759G>A (p.Arg920His)	SASH1 (R681H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375901	NM_015278.5(SASH1):c.1733A>C (p.Lys578Thr)	SASH1 (K502T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375300	NM_015278.5(SASH1):c.2042C>T (p.Pro681Leu)	SASH1 (P442L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2360428	NM_015278.5(SASH1):c.2908G>T (p.Val970Leu)	SASH1 (V731L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359485	NM_015278.5(SASH1):c.3208C>T (p.Leu1070Phe)	SASH1 (L1070F +5 more)	Single nucleotide variant (missense variant)	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 2348117	NM_015278.5(SASH1):c.2106C>A (p.Asp702Glu)	SASH1 (D702E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347235	NM_015278.5(SASH1):c.2642C>T (p.Pro881Leu)	SASH1 (P764L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2336849	NM_015278.5(SASH1):c.2285A>G (p.Gln762Arg)	SASH1 (Q762R +5 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 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 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 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 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

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