ClinVar for Gene (Select 51128) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 163

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254897	NM_016103.4(SAR1B):c.244+1_244+2del	SAR1B	Deletion (splice donor variant)	Chylomicron retention disease	GLikely pathogenic
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 3246455	NC_000005.9:g.(?_133944042)_(133948466_?)del	SAR1B	Deletion	not provided	GPathogenic
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3157805	NM_016103.4(SAR1B):c.52T>C (p.Phe18Leu)	SAR1B (F18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046116	NM_016103.4(SAR1B):c.244+6_244+13del	SAR1B	Deletion (intron variant)	SAR1B-related disorder	GLikely benign
Select item 3045888	NM_016103.4(SAR1B):c.349-4dup	SAR1B	Duplication (intron variant)	SAR1B-related disorder	GLikely benign
Select item 3009877	NM_016103.4(SAR1B):c.244+9_244+17dup	SAR1B	Duplication (intron variant)	not provided	GLikely benign
Select item 3003062	NM_016103.4(SAR1B):c.444A>G (p.Arg148=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000400	NM_016103.4(SAR1B):c.63A>G (p.Leu21=)	SAR1B	Single nucleotide variant (synonymous 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 2993826	NM_016103.4(SAR1B):c.179-18T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	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 2982844	NM_016103.4(SAR1B):c.209C>T (p.Thr70Met)	SAR1B (T70M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980995	NM_016103.4(SAR1B):c.179-5T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2873298	NM_016103.4(SAR1B):c.479A>C (p.Lys160Thr)	SAR1B (K160T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854383	NM_016103.4(SAR1B):c.36C>T (p.Phe12=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853399	NM_016103.4(SAR1B):c.349-11_349-9del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 2832886	NM_016103.4(SAR1B):c.178+17A>G	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 2777670	NM_016103.4(SAR1B):c.244+9_244+10dup	SAR1B	Duplication (intron variant)	not provided	GLikely benign
Select item 2744115	NM_016103.4(SAR1B):c.245-6dup	SAR1B	Duplication (intron variant)	not provided	GBenign
Select item 2734786	NM_016103.4(SAR1B):c.499G>T (p.Glu167Ter)	SAR1B (E167*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2698690	NM_016103.4(SAR1B):c.349-11G>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684432	GRCh37/hg19 5q31.1(chr5:133713529-134383753)x3	C5orf24, CAMLG +10 more	Copy number gain	not provided	GUncertain significance
Select item 2506539	GRCh37/hg19 5q31.1(chr5:133956623-133959709)	SAR1B	Copy number loss	Chylomicron retention disease	GLikely pathogenic
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2423511	NC_000005.9:g.(?_133942640)_(133945384_?)del	SAR1B	Deletion	not provided	GPathogenic
Select item 2423510	NC_000005.9:g.(?_133942640)_(133948466_?)del	SAR1B	Deletion	not provided	GPathogenic
Select item 2232994	NM_016103.4(SAR1B):c.38G>C (p.Ser13Thr)	SAR1B (S13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2200980	NM_016103.4(SAR1B):c.512G>A (p.Arg171Gln)	SAR1B (R171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2180299	NM_016103.4(SAR1B):c.160G>T (p.Val54Phe)	SAR1B (V54F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180106	NM_016103.4(SAR1B):c.80A>T (p.Lys27Ile)	SAR1B (K27I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2121379	NM_016103.4(SAR1B):c.17A>G (p.Asp6Gly)	SAR1B (D6G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2093724	NM_016103.4(SAR1B):c.244+9_244+14dup	SAR1B	Duplication (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 2069869	NM_016103.4(SAR1B):c.534T>C (p.Cys178=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039102	NM_016103.4(SAR1B):c.276T>C (p.Ala92=)	SAR1B	Single nucleotide variant (synonymous 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 1993966	NM_016103.4(SAR1B):c.580G>T (p.Ala194Ser)	SAR1B (A194S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1976644	NM_016103.4(SAR1B):c.179-10T>C	SAR1B	Single nucleotide variant (intron 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 1963976	NM_016103.4(SAR1B):c.432A>G (p.Glu144=)	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 1957037	NM_016103.4(SAR1B):c.244+9_244+26del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1955274	NM_016103.4(SAR1B):c.549A>G (p.Arg183=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949107	NM_016103.4(SAR1B):c.244+20_244+49del	SAR1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1943892	NM_016103.4(SAR1B):c.10A>C (p.Ile4Leu)	SAR1B (I4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1933633	NM_016103.4(SAR1B):c.449T>C (p.Met150Thr)	SAR1B (M150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932308	NM_016103.4(SAR1B):c.58+9G>A	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1929902	NM_016103.4(SAR1B):c.248G>A (p.Arg83Gln)	SAR1B (R83Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918924	NM_016103.4(SAR1B):c.245-7T>C	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913874	NM_016103.4(SAR1B):c.130A>C (p.Met44Leu)	SAR1B (M44L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1905478	NM_016103.4(SAR1B):c.228G>C (p.Leu76=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904751	NM_016103.4(SAR1B):c.378T>C (p.Asn126=)	SAR1B	Single nucleotide variant (synonymous 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 1879631	NM_016103.4(SAR1B):c.80_81del (p.Lys27fs)	SAR1B (K27fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1669507	NM_016103.4(SAR1B):c.348+20C>T	SAR1B	Single nucleotide variant (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 1656020	NM_016103.4(SAR1B):c.141T>C (p.Asp47=)	SAR1B	Single nucleotide variant (synonymous 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 1647100	NM_016103.4(SAR1B):c.481-18G>T	SAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637458	NM_016103.4(SAR1B):c.195C>T (p.Thr65=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632989	NM_016103.4(SAR1B):c.591T>C (p.Ile197=)	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 1600277	NM_016103.4(SAR1B):c.245-6del	SAR1B	Deletion (intron variant)	not provided	GBenign
Select item 1596303	NM_016103.4(SAR1B):c.495G>C (p.Leu165=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594733	NM_016103.4(SAR1B):c.183C>T (p.Ser61=)	SAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576002	NM_016103.4(SAR1B):c.480+14_480+15insG	SAR1B	Insertion (intron variant)	not provided	GLikely benign
Select item 1571804	NM_016103.4(SAR1B):c.255G>A (p.Val85=)	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 1554881	NM_016103.4(SAR1B):c.59-18A>G	SAR1B	Single nucleotide variant (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 1545725	NM_016103.4(SAR1B):c.245-20C>G	SAR1B	Single nucleotide variant (intron 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 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1522233	NM_016103.4(SAR1B):c.442C>T (p.Arg148Ter)	SAR1B (R148*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1511171	NC_000005.9:g.(?_133956603)_(133959709_?)dup	SAR1B	Duplication	not provided	GUncertain significance
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 1491742	NM_016103.4(SAR1B):c.100G>C (p.Asp34His)	SAR1B (D34H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476054	NM_016103.4(SAR1B):c.116C>T (p.Thr39Ile)	SAR1B (T39I)	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 1462385	NM_016103.4(SAR1B):c.559G>A (p.Gly187Arg)	SAR1B (G187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1460680	NM_016103.4(SAR1B):c.464G>C (p.Gly155Ala)	SAR1B (G155A)	Single nucleotide variant (missense variant)	not provided	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 1437554	NM_016103.4(SAR1B):c.107C>T (p.Ala36Val)	SAR1B (A36V)	Single nucleotide variant (missense variant)	not provided	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 1424248	NM_016103.4(SAR1B):c.257G>A (p.Trp86Ter)	SAR1B (W86*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1423917	NM_016103.4(SAR1B):c.277A>G (p.Ile93Val)	SAR1B (I93V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2