SAR1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 58362	GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1	C5orf15, C5orf24 +100 more	Copy number loss	See cases	GPathogenic
Select item 1247459	NM_016103.4(SAR1B):c.*148A>G	SAR1B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1935024	NM_016103.4(SAR1B):c.593A>C (p.Asp198Ala)	SAR1B (D198A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632989	NM_016103.4(SAR1B):c.591T>C (p.Ile197=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993966	NM_016103.4(SAR1B):c.580G>T (p.Ala194Ser)	SAR1B (A194S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473582	NM_016103.4(SAR1B):c.577A>C (p.Met193Leu)	SAR1B (M193L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409638	NM_016103.4(SAR1B):c.572G>A (p.Arg191His)	SAR1B (R191H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1441009	NM_016103.4(SAR1B):c.560G>A (p.Gly187Glu)	SAR1B (G187E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462385	NM_016103.4(SAR1B):c.559G>A (p.Gly187Arg)	SAR1B (G187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2926	NM_016103.4(SAR1B):c.555_558dup (p.Gly187fs)	SAR1B (G187fs)	Duplication (frameshift variant)	Chylomicron retention disease	GPathogenic
Select item 2929	NM_016103.4(SAR1B):c.554G>T (p.Gly185Val)	SAR1B (G185V)	Single nucleotide variant (missense variant)	Chylomicron retention disease	GPathogenic
Select item 1955274	NM_016103.4(SAR1B):c.549A>G (p.Arg183=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2925	NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg)	SAR1B (S179R)	Single nucleotide variant (missense variant)	SAR1B-related disorder	GLikely pathogenic
Select item 2069869	NM_016103.4(SAR1B):c.534T>C (p.Cys178=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964594	NM_016103.4(SAR1B):c.520G>A (p.Glu174Lys)	SAR1B (E174K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200980	NM_016103.4(SAR1B):c.512G>A (p.Arg171Gln)	SAR1B (R171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519644	NM_016103.4(SAR1B):c.512G>C (p.Arg171Pro)	SAR1B (R171P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 747651	NM_016103.4(SAR1B):c.510C>T (p.Ala170=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565655	NM_016103.4(SAR1B):c.502C>T (p.Leu168=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1492286	NM_016103.4(SAR1B):c.502C>A (p.Leu168Met)	SAR1B (L168M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734786	NM_016103.4(SAR1B):c.499G>T (p.Glu167Ter)	SAR1B (E167*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2133018	NM_016103.4(SAR1B):c.496A>C (p.Lys166Gln)	SAR1B (K166Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596303	NM_016103.4(SAR1B):c.495G>C (p.Leu165=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1055550	NM_016103.4(SAR1B):c.481-3T>C	SAR1B	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1198158	NM_016103.4(SAR1B):c.481-13T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1647100	NM_016103.4(SAR1B):c.481-18G>T	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222984	NM_016103.4(SAR1B):c.480+205G>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284009	NM_016103.4(SAR1B):c.480+125C>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300530	NM_016103.4(SAR1B):c.480+102T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236079	NM_016103.4(SAR1B):c.480+18del	SAR1B	Deletion (intron variant)	Chylomicron retention disease +1 more	GBenign
Select item 1576002	NM_016103.4(SAR1B):c.480+14_480+15insG	SAR1B	Insertion (intron variant)	not provided	GLikely benign
Select item 2029491	NM_016103.4(SAR1B):c.480+11A>T	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873298	NM_016103.4(SAR1B):c.479A>C (p.Lys160Thr)	SAR1B (K160T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930084	NM_016103.4(SAR1B):c.475G>C (p.Gly159Arg)	SAR1B (G159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460680	NM_016103.4(SAR1B):c.464G>C (p.Gly155Ala)	SAR1B (G155A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933633	NM_016103.4(SAR1B):c.449T>C (p.Met150Thr)	SAR1B (M150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003062	NM_016103.4(SAR1B):c.444A>G (p.Arg148=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412437	NM_016103.4(SAR1B):c.443G>A (p.Arg148Gln)	SAR1B (R148Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522233	NM_016103.4(SAR1B):c.442C>T (p.Arg148Ter)	SAR1B (R148*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1963976	NM_016103.4(SAR1B):c.432A>G (p.Glu144=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610927	NM_016103.4(SAR1B):c.426C>T (p.Ile142=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959400	NM_016103.4(SAR1B):c.423C>T (p.Ala141=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115610	NM_016103.4(SAR1B):c.416C>T (p.Pro139Leu)	SAR1B (P139L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2923	NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)	SAR1B (D137N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2184895	NM_016103.4(SAR1B):c.387A>G (p.Ile129Met)	SAR1B (I129M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904751	NM_016103.4(SAR1B):c.378T>C (p.Asn126=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1311044	NM_016103.4(SAR1B):c.370A>G (p.Ile124Val)	SAR1B (I124V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2928	NM_016103.4(SAR1B):c.364G>T (p.Glu122Ter)	SAR1B (E122*)	Single nucleotide variant (nonsense)	Chylomicron retention disease	GPathogenic
Select item 2927	NM_016103.4(SAR1B):c.349-1G>C	SAR1B	Single nucleotide variant (splice acceptor variant)	Chylomicron retention disease	GPathogenic
Select item 3045888	NM_016103.4(SAR1B):c.349-4dup	SAR1B	Duplication (intron variant)	SAR1B-related disorder	GLikely benign
Select item 2853399	NM_016103.4(SAR1B):c.349-11_349-9del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 2698690	NM_016103.4(SAR1B):c.349-11G>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202373	NM_016103.4(SAR1B):c.349-84T>G	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669507	NM_016103.4(SAR1B):c.348+20C>T	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986276	NM_016103.4(SAR1B):c.346G>A (p.Asp116Asn)	SAR1B (D116N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162260	NM_016103.4(SAR1B):c.344T>C (p.Leu115Pro)	SAR1B (L115P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1426371	NM_016103.4(SAR1B):c.328_342dup (p.Glu110_Glu114dup)	SAR1B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 985564	NM_016103.4(SAR1B):c.336del (p.Glu113fs)	SAR1B (E113fs)	Deletion (frameshift variant)	Chylomicron retention disease +1 more	GPathogenic
Select item 2227967	NM_016103.4(SAR1B):c.322C>A (p.Leu108Met)	SAR1B (L108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2908440	NM_016103.4(SAR1B):c.321G>C (p.Arg107Ser)	SAR1B (R107S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728544	NM_016103.4(SAR1B):c.321G>A (p.Arg107=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544386	NM_016103.4(SAR1B):c.312C>T (p.Asp104=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386224	NM_016103.4(SAR1B):c.310G>C (p.Asp104His)	SAR1B (D104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522346	NM_016103.4(SAR1B):c.280A>C (p.Asn94His)	SAR1B (N94H)	Single nucleotide variant (missense variant)	Chylomicron retention disease	GUncertain significance
Select item 1423917	NM_016103.4(SAR1B):c.277A>G (p.Ile93Val)	SAR1B (I93V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039102	NM_016103.4(SAR1B):c.276T>C (p.Ala92=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460845	NM_016103.4(SAR1B):c.263A>G (p.Asn88Ser)	SAR1B (N88S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424248	NM_016103.4(SAR1B):c.257G>A (p.Trp86Ter)	SAR1B (W86*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1571804	NM_016103.4(SAR1B):c.255G>A (p.Val85=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929902	NM_016103.4(SAR1B):c.248G>A (p.Arg83Gln)	SAR1B (R83Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325033	NM_016103.4(SAR1B):c.247C>T (p.Arg83Ter)	SAR1B (R83*)	Single nucleotide variant (nonsense)	Chylomicron retention disease +1 more	GPathogenic/Likely pathogenic
Select item 2744115	NM_016103.4(SAR1B):c.245-6dup	SAR1B	Duplication (intron variant)	not provided	GBenign
Select item 1600277	NM_016103.4(SAR1B):c.245-6del	SAR1B	Deletion (intron variant)	not provided	GBenign
Select item 1918924	NM_016103.4(SAR1B):c.245-7T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545725	NM_016103.4(SAR1B):c.245-20C>G	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091500	NM_016103.4(SAR1B):c.244+36_244+49del	SAR1B	Deletion (intron variant)	not provided	GUncertain significance
Select item 1949107	NM_016103.4(SAR1B):c.244+20_244+49del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1957037	NM_016103.4(SAR1B):c.244+9_244+26del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 3000376	NM_016103.4(SAR1B):c.244+9_244+23del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1661315	NM_016103.4(SAR1B):c.244+9_244+19del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 3009877	NM_016103.4(SAR1B):c.244+9_244+17dup	SAR1B	Duplication (intron variant)	not provided	GLikely benign
Select item 1111766	NM_016103.4(SAR1B):c.244+18T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899902	NM_016103.4(SAR1B):c.244+17T>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777770	NM_016103.4(SAR1B):c.244+9_244+16del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1549443	NM_016103.4(SAR1B):c.244+9_244+15dup	SAR1B	Duplication (intron variant)	not provided	GLikely benign
Select item 2093724	NM_016103.4(SAR1B):c.244+9_244+14dup	SAR1B	Duplication (intron variant)	not provided	GLikely benign
Select item 3046116	NM_016103.4(SAR1B):c.244+6_244+13del	SAR1B	Deletion (intron variant)	SAR1B-related disorder	GLikely benign
Select item 2989440	NM_016103.4(SAR1B):c.244+11T>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777670	NM_016103.4(SAR1B):c.244+9_244+10dup	SAR1B	Duplication (intron variant)	not provided	GLikely benign
Select item 1647922	NM_016103.4(SAR1B):c.244+9_244+11del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 756063	NM_016103.4(SAR1B):c.244+10T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789284	NM_016103.4(SAR1B):c.244+9C>T	SAR1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 746566	NM_016103.4(SAR1B):c.244+9C>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746344	NM_016103.4(SAR1B):c.244+9C>G	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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