29927[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 277

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152304	GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3	EEFSEC, KBTBD12 +32 more	Copy number gain	See cases	GUncertain significance
Select item 3239042	NM_001400328.1(SEC61A1):c.21G>A (p.Val7=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327723	NC_000003.12:g.128052146C>G	SEC61A1, LOC117011629	Single nucleotide variant	not provided	GLikely benign
Select item 1675294	NC_000003.12:g.128052158A>G	LOC117011629, SEC61A1	Single nucleotide variant	not provided	GLikely benign
Select item 1272964	NC_000003.12:g.128052316G>A	LOC117011629, SEC61A1	Single nucleotide variant	not provided	GBenign
Select item 1603293	NM_013336.4(SEC61A1):c.7+10G>A	LOC117011629, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574803	NM_013336.4(SEC61A1):c.7+18G>T	LOC117011629, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980825	NM_013336.4(SEC61A1):c.7+20C>A	LOC117011629, SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316380	NM_013336.4(SEC61A1):c.8-39T>A	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998935	NM_013336.4(SEC61A1):c.8-17T>C	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971061	NM_013336.4(SEC61A1):c.8-12C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539942	NM_013336.4(SEC61A1):c.8-9C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531547	NM_013336.4(SEC61A1):c.8-5C>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185351	NM_013336.4(SEC61A1):c.8-4A>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880205	NM_013336.4(SEC61A1):c.16C>T (p.Leu6=)	SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2837606	NM_013336.4(SEC61A1):c.31C>T (p.Pro11Ser)	SEC61A1 (P17S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1538985	NM_013336.4(SEC61A1):c.33C>T (p.Pro11=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107820	NM_013336.4(SEC61A1):c.69G>A (p.Glu23=)	SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1462866	NM_013336.4(SEC61A1):c.75+3A>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2095161	NM_013336.4(SEC61A1):c.75+5G>A	SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1666597	NM_013336.4(SEC61A1):c.75+7A>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856942	NM_013336.4(SEC61A1):c.75+11del	SEC61A1	Deletion (intron variant)	not provided	GBenign
Select item 2971089	NM_013336.4(SEC61A1):c.75+13A>C	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631001	NM_013336.4(SEC61A1):c.75+22_75+25del	SEC61A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2706194	NM_013336.4(SEC61A1):c.76-14C>A	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1411843	NM_013336.4(SEC61A1):c.76-10C>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 493372	NM_013336.4(SEC61A1):c.76-4C>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2851821	NM_013336.4(SEC61A1):c.132G>A (p.Val44=)	SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851831	NM_013336.4(SEC61A1):c.141G>C (p.Gln47His)	SEC61A1 (Q53H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2700717	NM_013336.4(SEC61A1):c.141+1G>C	SEC61A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2091259	NM_013336.4(SEC61A1):c.141+9A>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123895	NM_013336.4(SEC61A1):c.141+19T>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746013	NM_013336.4(SEC61A1):c.142-16C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558456	NM_013336.4(SEC61A1):c.142-10C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3159381	NM_013336.4(SEC61A1):c.170A>T (p.Asp57Val)	SEC61A1 (D57V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686175	NM_013336.4(SEC61A1):c.186C>A (p.Phe62Leu)	SEC61A1 (F62L +2 more)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4	GPathogenic
Select item 253147	NM_013336.4(SEC61A1):c.200T>G (p.Val67Gly)	SEC61A1 (V67G)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4	GPathogenic
Select item 2654108	NM_013336.4(SEC61A1):c.210C>T (p.Ala70=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001310	NM_013336.4(SEC61A1):c.220+15C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265840	NM_013336.4(SEC61A1):c.220+128A>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222917	NM_013336.4(SEC61A1):c.220+129A>C	SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265748	NM_013336.4(SEC61A1):c.221-72G>T	SEC61A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1245913	NM_013336.4(SEC61A1):c.221-53C>T	SEC61A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1914890	NM_013336.4(SEC61A1):c.221-20T>C	SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3004428	NM_013336.4(SEC61A1):c.221-13C>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927994	NM_013336.4(SEC61A1):c.221-12C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857994	NM_013336.4(SEC61A1):c.221-6C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759202	NM_013336.4(SEC61A1):c.252T>G (p.Ile84Met)	SEC61A1 (I84M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549498	NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp)	SEC61A1 (V85D +2 more)	Single nucleotide variant (missense variant)	Decreased circulating antibody concentration	GLikely pathogenic
Select item 2705667	NM_013336.4(SEC61A1):c.258G>C (p.Thr86=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564854	NM_013336.4(SEC61A1):c.258G>A (p.Thr86=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804890	NM_013336.4(SEC61A1):c.265C>T (p.Leu89Phe)	SEC61A1 (L36F +2 more)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4	GLikely pathogenic
Select item 2686029	NM_013336.4(SEC61A1):c.275A>G (p.Gln92Arg)	SEC61A1 (Q92R +2 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 11, autosomal dominant	GPathogenic
Select item 1648736	NM_013336.4(SEC61A1):c.288C>T (p.Gly96=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110271	NM_013336.4(SEC61A1):c.289G>A (p.Ala97Thr)	SEC61A1 (A44T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435800	NM_013336.4(SEC61A1):c.299T>C (p.Ile100Thr)	SEC61A1 (I100T +2 more)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4 +1 more	GUncertain significance
Select item 1513990	NM_013336.4(SEC61A1):c.307G>A (p.Gly103Ser)	SEC61A1 (G103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200852	NM_013336.4(SEC61A1):c.313A>T (p.Thr105Ser)	SEC61A1 (T111S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545425	NM_013336.4(SEC61A1):c.314C>A (p.Thr105Asn)	SEC61A1 (T105N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2978253	NM_013336.4(SEC61A1):c.321A>G (p.Lys107=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168567	NM_013336.4(SEC61A1):c.330T>G (p.Ala110=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871069	NM_013336.4(SEC61A1):c.333C>T (p.Leu111=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167457	NM_013336.4(SEC61A1):c.339C>T (p.Asn113=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2153452	NM_013336.4(SEC61A1):c.344C>G (p.Ala115Gly)	SEC61A1 (A62G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1533655	NM_013336.4(SEC61A1):c.348A>G (p.Gln116=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718110	NM_013336.4(SEC61A1):c.350A>G (p.Lys117Arg)	SEC61A1 (K117R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389907	NM_013336.4(SEC61A1):c.352+3A>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2027218	NM_013336.4(SEC61A1):c.352+8A>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646246	NM_013336.4(SEC61A1):c.352+11T>C	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899635	NM_013336.4(SEC61A1):c.352+17del	SEC61A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2996716	NM_013336.4(SEC61A1):c.352+20A>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327367	NM_013336.4(SEC61A1):c.352+114del	SEC61A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1182610	NM_013336.4(SEC61A1):c.352+105T>A	SEC61A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2828117	NM_013336.4(SEC61A1):c.353-17_353-15del	SEC61A1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1425052	NM_013336.4(SEC61A1):c.353-10_353-5del	SEC61A1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1594167	NM_013336.4(SEC61A1):c.353-8_353-4del	SEC61A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2028857	NM_013336.4(SEC61A1):c.353-6T>A	SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3009957	NM_013336.4(SEC61A1):c.353-5T>C	SEC61A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2864579	NM_013336.4(SEC61A1):c.353-4C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566493	NM_013336.4(SEC61A1):c.372T>C (p.Thr124=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1920591	NM_013336.4(SEC61A1):c.375C>T (p.Ile125=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3317167	NM_013336.4(SEC61A1):c.385A>G (p.Ile129Val)	SEC61A1 (I129V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1674933	NM_013336.4(SEC61A1):c.387C>T (p.Ile129=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378999	NM_013336.4(SEC61A1):c.388G>A (p.Val130Met)	SEC61A1 (V130M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001669	NM_013336.4(SEC61A1):c.390G>A (p.Val130=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551951	NM_013336.4(SEC61A1):c.402C>T (p.Thr134=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999383	NM_013336.4(SEC61A1):c.403G>A (p.Gly135Arg)	SEC61A1 (G135R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993605	NM_013336.4(SEC61A1):c.418C>A (p.Pro140Thr)	SEC61A1 (P87T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966491	NM_013336.4(SEC61A1):c.432T>C (p.Gly144=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849104	NM_013336.4(SEC61A1):c.438A>C (p.Gly146=)	SEC61A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797361	NM_013336.4(SEC61A1):c.462+9_462+11del	SEC61A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1559202	NM_013336.4(SEC61A1):c.462+9T>C	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 799098	NM_013336.4(SEC61A1):c.462+10A>G	SEC61A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258500	NM_013336.4(SEC61A1):c.463-131C>T	SEC61A1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 3