SGSH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1243345	NM_001366385.1(CARD14):c.1852-303TTTCT[5]	CARD14, SGSH	Microsatellite (intron variant)	not provided	GBenign
Select item 1192694	NM_001366385.1(CARD14):c.1852-60T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2199164	NM_001366385.1(CARD14):c.1852-18T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1167888	NM_001366385.1(CARD14):c.1852-16C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GBenign
Select item 1560652	NM_001366385.1(CARD14):c.1852-14C>T	SGSH, CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2940756	NM_001366385.1(CARD14):c.1852-11C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1164111	NM_001366385.1(CARD14):c.1852-8G>A	SGSH, CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +2 more	GBenign/Likely benign
Select item 1637724	NM_001366385.1(CARD14):c.1852-7C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 1613453	NM_001366385.1(CARD14):c.1854T>G (p.Val618=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1924267	NM_001366385.1(CARD14):c.1855G>T (p.Asp619Tyr)	CARD14, SGSH (D619Y)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2941848	NM_001366385.1(CARD14):c.1858T>A (p.Tyr620Asn)	CARD14, SGSH (Y620N)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1091828	NM_001366385.1(CARD14):c.1860C>T (p.Tyr620=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1412365	NM_001366385.1(CARD14):c.1861G>A (p.Glu621Lys)	CARD14, SGSH (E621K)	Single nucleotide variant (non-coding transcript variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1694230	NM_001366385.1(CARD14):c.1865C>G (p.Ala622Gly)	CARD14, SGSH (A622G)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 2942276	NM_001366385.1(CARD14):c.1869A>G (p.Ser623=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1014025	NM_001366385.1(CARD14):c.1873C>T (p.Pro625Ser)	SGSH, CARD14 (P625S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2930080	NM_001366385.1(CARD14):c.1882A>G (p.Lys628Glu)	CARD14, SGSH (K628E)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2162766	NM_001366385.1(CARD14):c.1895A>G (p.Glu632Gly)	CARD14, SGSH (E632G)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 583194	NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met)	CARD14, SGSH (T634M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 733867	NM_001366385.1(CARD14):c.1902G>A (p.Thr634=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1353441	NM_001366385.1(CARD14):c.1909G>A (p.Glu637Lys)	CARD14, SGSH (E637K)	Single nucleotide variant (non-coding transcript variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1993673	NM_001366385.1(CARD14):c.1913A>C (p.Glu638Ala)	CARD14, SGSH (E638A)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 458091	NM_001366385.1(CARD14):c.1917C>T (p.Ala639=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 856977	NM_001366385.1(CARD14):c.1918G>A (p.Val640Met)	CARD14, SGSH (V640M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 862620	NM_001366385.1(CARD14):c.1919T>C (p.Val640Ala)	CARD14, SGSH (V640A)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2954343	NM_001366385.1(CARD14):c.1920G>A (p.Val640=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1458580	NM_001366385.1(CARD14):c.1923G>C (p.Gly641=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2926952	NM_001366385.1(CARD14):c.1925T>A (p.Leu642His)	CARD14, SGSH (L642H)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 582296	NM_001366385.1(CARD14):c.1927C>T (p.Leu643Phe)	CARD14, SGSH (L643F)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1694231	NM_001366385.1(CARD14):c.1929C>T (p.Leu643=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1120454	NM_001366385.1(CARD14):c.1929C>G (p.Leu643=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 1351156	NM_001366385.1(CARD14):c.1936del (p.Val646fs)	CARD14, SGSH (V646fs)	Deletion (frameshift variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2925211	NM_001366385.1(CARD14):c.1937T>C (p.Val646Ala)	CARD14, SGSH (V646A)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1589066	NM_001366385.1(CARD14):c.1938G>A (p.Val646=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1551368	NM_001366385.1(CARD14):c.1938G>T (p.Val646=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1490790	NM_001366385.1(CARD14):c.1939G>C (p.Asp647His)	CARD14, SGSH (D647H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1093132	NM_001366385.1(CARD14):c.1941C>T (p.Asp647=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 652294	NM_001366385.1(CARD14):c.1942G>A (p.Gly648Ser)	CARD14, SGSH (G648S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 655665	NM_001366385.1(CARD14):c.1945T>A (p.Phe649Ile)	CARD14, SGSH (F649I)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 999073	NM_001366385.1(CARD14):c.1960G>C (p.Val654Leu)	CARD14, SGSH (V654L)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1530223	NM_001366385.1(CARD14):c.1962G>A (p.Val654=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 2950818	NM_001366385.1(CARD14):c.1964A>T (p.Lys655Met)	CARD14, SGSH (K655M)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2935707	NM_001366385.1(CARD14):c.1965G>A (p.Lys655=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1399459	NM_001366385.1(CARD14):c.1966G>A (p.Val656Ile)	CARD14, SGSH (V656I)	Single nucleotide variant (non-coding transcript variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1134524	NM_001366385.1(CARD14):c.1971C>T (p.Asn657=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 640433	NM_001366385.1(CARD14):c.1973C>T (p.Thr658Met)	CARD14, SGSH (T658M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1087126	NM_001366385.1(CARD14):c.1974G>A (p.Thr658=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 574056	NM_001366385.1(CARD14):c.1977C>T (p.Asp659=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2929525	NM_001366385.1(CARD14):c.1978+2T>C	CARD14, SGSH	Single nucleotide variant (splice donor variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2931551	NM_001366385.1(CARD14):c.1978+12A>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1577330	NM_001366385.1(CARD14):c.1978+15C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1552149	NM_001366385.1(CARD14):c.1978+17T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1636618	NM_001366385.1(CARD14):c.1978+20C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1227365	NM_001366385.1(CARD14):c.1978+142del	SGSH, CARD14	Deletion (intron variant)	not provided	GBenign
Select item 1192695	NM_001366385.1(CARD14):c.1979-125C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3042687	NM_001366385.1(CARD14):c.1979-26_1979-16del	CARD14, SGSH	Microsatellite (intron variant)	CARD14-related disorder	GLikely benign
Select item 1164982	NM_001366385.1(CARD14):c.1979-15G>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GBenign
Select item 1532987	NM_001366385.1(CARD14):c.1979-13C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1976002	NM_001366385.1(CARD14):c.1979-10C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 1694232	NM_001366385.1(CARD14):c.1979-4T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 2185097	NM_001366385.1(CARD14):c.1979G>A (p.Gly660Asp)	CARD14, SGSH (G660D)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 642839	NM_001366385.1(CARD14):c.1979G>T (p.Gly660Val)	CARD14, SGSH (G660V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1721109	NM_001366385.1(CARD14):c.1982A>T (p.Tyr661Phe)	CARD14, SGSH (Y661F)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 644785	NM_001366385.1(CARD14):c.1982A>C (p.Tyr661Ser)	CARD14, SGSH (Y661S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2016316	NM_001366385.1(CARD14):c.1985dup (p.Arg663fs)	SGSH, CARD14 (R663fs)	Duplication (frameshift variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1580217	NM_001366385.1(CARD14):c.1986G>A (p.Lys662=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2018609	NM_001366385.1(CARD14):c.1990C>T (p.Leu664=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1503177	NM_001366385.1(CARD14):c.1997A>G (p.Gln666Arg)	CARD14, SGSH (Q666R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1169217	NM_001366385.1(CARD14):c.1998G>A (p.Gln666=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +2 more	GBenign/Likely benign
Select item 653662	NM_001366385.1(CARD14):c.2000A>T (p.Asp667Val)	CARD14, SGSH (D667V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947266	NM_001366385.1(CARD14):c.2005G>A (p.Glu669Lys)	CARD14, SGSH (E669K)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1938453	NM_001366385.1(CARD14):c.2006A>G (p.Glu669Gly)	CARD14, SGSH (E669G)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2500010	NM_001366385.1(CARD14):c.2007G>A (p.Glu669=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1935348	NM_001366385.1(CARD14):c.2010C>G (p.Ala670=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 941604	NM_001366385.1(CARD14):c.2018C>T (p.Ala673Val)	CARD14, SGSH (A673V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2932707	NM_001366385.1(CARD14):c.2019G>T (p.Ala673=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 1124694	NM_001366385.1(CARD14):c.2019G>A (p.Ala673=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2924714	NM_001366385.1(CARD14):c.2024C>T (p.Ser675Leu)	CARD14, SGSH (S675L)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1694233	NM_001366385.1(CARD14):c.2025G>A (p.Ser675=)	SGSH, CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GLikely benign
Select item 1063575	NM_001366385.1(CARD14):c.2035T>C (p.Phe679Leu)	CARD14, SGSH (F679L)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2921964	NM_001366385.1(CARD14):c.2037C>T (p.Phe679=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 842525	NM_001366385.1(CARD14):c.2038T>C (p.Tyr680His)	CARD14, SGSH (Y680H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 68778	NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp)	CARD14, SGSH (R682W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 2922014	NM_001366385.1(CARD14):c.2057C>T (p.Ala686Val)	CARD14, SGSH (A686V)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2064983	NM_001366385.1(CARD14):c.2058C>T (p.Ala686=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 795768	NM_001366385.1(CARD14):c.2064G>A (p.Glu688=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2936442	NM_001366385.1(CARD14):c.2066G>A (p.Gly689Asp)	CARD14, SGSH (G689D)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 3137301	NM_001366385.1(CARD14):c.2078G>T (p.Gly693Val)	CARD14, SGSH (G693V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716706	NM_001366385.1(CARD14):c.2094T>C (p.His698=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2140530	NM_001366385.1(CARD14):c.2100C>T (p.Asn700=)	SGSH, CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1484097	NM_001366385.1(CARD14):c.2101G>A (p.Glu701Lys)	CARD14, SGSH (E701K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1084892	NM_001366385.1(CARD14):c.2112C>T (p.His704=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1694234	NM_001366385.1(CARD14):c.2113G>A (p.Val705Ile)	CARD14, SGSH (V705I)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 1944063	NM_001366385.1(CARD14):c.2115C>T (p.Val705=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2938310	NM_001366385.1(CARD14):c.2117C>T (p.Thr706Ile)	CARD14, SGSH (T706I)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance

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