3921[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 403395	NM_002295.6(RPSA):c.-8T>C	RPSA	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 1568998	NM_002295.6(RPSA):c.22C>T (p.Leu8=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64671	NM_002295.6(RPSA):c.25C>T (p.Gln9Ter)	RPSA (Q9*)	Single nucleotide variant (nonsense)	Familial isolated congenital asplenia	GPathogenic
Select item 3006416	NM_002295.6(RPSA):c.33G>A (p.Lys11=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010090	NM_002295.6(RPSA):c.54C>T (p.Phe18=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995525	NM_002295.6(RPSA):c.81C>T (p.Gly27=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778084	NM_002295.6(RPSA):c.83C>T (p.Thr28Ile)	RPSA (T28I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452759	NM_002295.6(RPSA):c.100A>G (p.Met34Val)	RPSA (M34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857952	NM_002295.6(RPSA):c.103G>A (p.Glu35Lys)	RPSA (E35K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937283	NM_002295.6(RPSA):c.108G>C (p.Gln36His)	RPSA (Q36H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993356	NM_002295.6(RPSA):c.133+8A>G	RPSA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1327975	NM_002295.6(RPSA):c.134-32C>T	RPSA	Single nucleotide variant (intron variant)	Familial isolated congenital asplenia	GBenign
Select item 1651745	NM_002295.6(RPSA):c.134-18C>T	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110469	NM_002295.6(RPSA):c.134-14C>T	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023962	NM_002295.6(RPSA):c.134-12G>C	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093591	NM_002295.6(RPSA):c.134-7C>T	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1002399	NM_002295.6(RPSA):c.161C>G (p.Thr54Ser)	RPSA (T54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64676	NM_002295.6(RPSA):c.161C>A (p.Thr54Asn)	RPSA (T54N)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GPathogenic
Select item 64677	NM_002295.6(RPSA):c.172C>T (p.Leu58Phe)	RPSA (L58F)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GPathogenic
Select item 2006446	NM_002295.6(RPSA):c.177G>C (p.Leu59=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655756	NM_002295.6(RPSA):c.183A>C (p.Ala61=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927807	NM_002295.6(RPSA):c.185C>G (p.Ala62Gly)	RPSA (A62G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554658	NM_002295.6(RPSA):c.189T>A (p.Arg63=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784460	NM_002295.6(RPSA):c.190G>A (p.Ala64Thr)	RPSA (A64T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987083	NM_002295.6(RPSA):c.193A>G (p.Ile65Val)	RPSA (I65V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390997	NM_002295.6(RPSA):c.196G>T (p.Val66Phe)	RPSA (V66F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839036	NM_002295.6(RPSA):c.215C>T (p.Ala72Val)	RPSA (A72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600254	NM_002295.6(RPSA):c.228T>C (p.Val76=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1437826	NM_002295.6(RPSA):c.230T>C (p.Ile77Thr)	RPSA (I77T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616134	NM_002295.6(RPSA):c.234C>T (p.Ser78=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374841	NM_002295.6(RPSA):c.245C>G (p.Thr82Ser)	RPSA (T82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674542	NM_002295.6(RPSA):c.252+11_252+12del	RPSA (T88fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 1603637	NM_002295.6(RPSA):c.252+12_252+13del	RPSA (V89fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 1918893	NM_002295.6(RPSA):c.252+16G>A	RPSA	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely benign
Select item 1164164	NM_002295.6(RPSA):c.252+17T>C	RPSA	Single nucleotide variant (splice donor variant +1 more)	not provided	GBenign
Select item 1645393	NM_002295.6(RPSA):c.253-15_253-14del	RPSA	Deletion (intron variant)	not provided	GLikely benign
Select item 1638105	NM_002295.6(RPSA):c.253-16T>A	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019514	NM_002295.6(RPSA):c.261G>T (p.Val87=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3156293	NM_002295.6(RPSA):c.289A>G (p.Thr97Ala)	RPSA (T97A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1364001	NM_002295.6(RPSA):c.295A>G (p.Ile99Val)	RPSA (I104V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797181	NM_002295.6(RPSA):c.315T>C (p.Pro105=)	RPSA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1958342	NM_002295.6(RPSA):c.330C>T (p.Asn110=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485517	NM_002295.6(RPSA):c.358C>G (p.Arg120Gly)	RPSA (R125G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001707	NM_002295.6(RPSA):c.390C>T (p.Asp130=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463831	NM_002295.6(RPSA):c.404C>T (p.Thr135Met)	RPSA (T135M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060226	NM_002295.6(RPSA):c.413C>T (p.Ser138Phe)	RPSA (S143F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498092	NM_002295.6(RPSA):c.433A>G (p.Ile145Val)	RPSA (I150V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075687	NM_002295.6(RPSA):c.438G>A (p.Ala146=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787153	NM_002295.6(RPSA):c.439C>T (p.Leu147=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186149	NM_002295.6(RPSA):c.463C>T (p.Arg155Cys)	RPSA (R155C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902286	NM_002295.6(RPSA):c.464G>A (p.Arg155His)	RPSA (R155H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721559	NM_002295.6(RPSA):c.467A>C (p.Tyr156Ser)	RPSA (Y156S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412193	NM_002295.6(RPSA):c.479C>T (p.Ala160Val)	RPSA (A160V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412689	NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)	RPSA (N169I +1 more)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GUncertain significance
Select item 451245	NM_002295.6(RPSA):c.498+3A>C	RPSA	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1669621	NM_002295.6(RPSA):c.498+7A>G	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 626159	NM_002295.6(RPSA):c.498+8T>A	RPSA	Single nucleotide variant (intron variant)	Familial isolated congenital asplenia +1 more	GConflicting classifications of pathogenicity
Select item 2821325	NM_002295.6(RPSA):c.498+12A>G	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661883	NM_002295.6(RPSA):c.498+14G>T	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785356	NM_002295.6(RPSA):c.498+16T>C	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047808	NM_002295.6(RPSA):c.498+21_498+34del	RPSA	Deletion (intron variant)	not provided	GLikely benign
Select item 2973793	NM_002295.6(RPSA):c.499-15_499-13del	RPSA	Deletion (intron variant)	not provided	GLikely benign
Select item 1606829	NM_002295.6(RPSA):c.499-16C>T	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2671652	NM_002295.6(RPSA):c.508T>G (p.Ser170Ala)	RPSA (S170A +1 more)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GUncertain significance
Select item 1927986	NM_002295.6(RPSA):c.510A>G (p.Ser170=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 403396	NM_002295.6(RPSA):c.519G>A (p.Leu173=)	RPSA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1351002	NM_002295.6(RPSA):c.522G>A (p.Met174Ile)	RPSA (M179I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720926	NM_002295.6(RPSA):c.531G>C (p.Met177Ile)	RPSA (M177I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64674	NM_002295.6(RPSA):c.538C>T (p.Arg180Trp)	RPSA (R180W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 64673	NM_002295.6(RPSA):c.538C>G (p.Arg180Gly)	RPSA (R180G +1 more)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GPathogenic
Select item 64675	NM_002295.6(RPSA):c.556C>T (p.Arg186Cys)	RPSA (R186C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2817376	NM_002295.6(RPSA):c.569C>G (p.Ser190Cys)	RPSA (S195C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996011	NM_002295.6(RPSA):c.571C>T (p.Arg191Cys)	RPSA (R191C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64672	NM_002295.6(RPSA):c.590_594dup (p.Pro199fs)	RPSA (P199fs +1 more)	Duplication (frameshift variant)	Familial isolated congenital asplenia	GPathogenic
Select item 1958114	NM_002295.6(RPSA):c.609C>T (p.Phe203=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892535	NM_002295.6(RPSA):c.627+3A>G	RPSA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2193869	NM_002295.6(RPSA):c.627+4A>G	RPSA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 749481	NM_002295.6(RPSA):c.627+10T>C	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790018	NM_002295.6(RPSA):c.627+11C>G	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544068	NM_002295.6(RPSA):c.627+17G>C	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167232	NM_002295.6(RPSA):c.628-10dup	RPSA	Duplication (intron variant)	not provided	GBenign
Select item 1636885	NM_002295.6(RPSA):c.628-11_628-10del	RPSA	Deletion (intron variant)	not provided	GBenign
Select item 1932245	NM_002295.6(RPSA):c.628-17T>C	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132163	NM_002295.6(RPSA):c.628-9dup	RPSA	Duplication (intron variant)	not provided	GLikely benign
Select item 1642488	NM_002295.6(RPSA):c.628-8dup	RPSA	Duplication (intron variant)	not provided	GLikely benign
Select item 2879837	NM_002295.6(RPSA):c.628-3C>T	RPSA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1522159	NM_002295.6(RPSA):c.628-3C>G	RPSA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1349805	NM_002295.6(RPSA):c.706C>T (p.Pro236Ser)	RPSA (P236S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902555	NM_002295.6(RPSA):c.756A>G (p.Val252=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635660	NM_002295.6(RPSA):c.770T>G (p.Val257Gly)	RPSA (V257G +1 more)	Single nucleotide variant (missense variant)	RPSA-related disorder	GUncertain significance
Select item 2808266	NM_002295.6(RPSA):c.771G>T (p.Val257=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000971	NM_002295.6(RPSA):c.772C>T (p.Pro258Ser)	RPSA (P263S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810136	NM_002295.6(RPSA):c.792T>C (p.Thr264=)	RPSA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2963830	NM_002295.6(RPSA):c.793+5G>A	RPSA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1955693	NM_002295.6(RPSA):c.793+7A>G	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980284	NM_002295.6(RPSA):c.793+10A>G	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1496633	NM_002295.6(RPSA):c.793+13A>G	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105555	NM_002295.6(RPSA):c.794-10C>G	RPSA	Single nucleotide variant (intron variant)	not provided	GLikely benign

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