11290[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	CENPM, CSDC2 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 154653	GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3	CCDC134, CENPM +35 more	Copy number gain	See cases	GUncertain significance
Select item 1241034	NR_157279.2(SREBF2-AS1):n.1168T>C	SREBF2, SREBF2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1262622	NR_157279.2(SREBF2-AS1):n.1116C>G	SREBF2, SREBF2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2319989	NM_004599.4(SREBF2):c.13G>C (p.Gly5Arg)	SREBF2, SREBF2-AS1 (G5R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169930	NM_004599.4(SREBF2):c.58G>C (p.Gly20Arg)	SREBF2, SREBF2-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322606	NM_004599.4(SREBF2):c.115G>A (p.Val39Met)	SREBF2 (V39M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601788	NM_004599.4(SREBF2):c.149T>C (p.Leu50Pro)	SREBF2 (L50P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786383	NM_004599.4(SREBF2):c.201T>C (p.Ser67=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2288345	NM_004599.4(SREBF2):c.278C>A (p.Thr93Asn)	SREBF2 (T93N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169925	NM_004599.4(SREBF2):c.308C>G (p.Ser103Trp)	SREBF2 (S103W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290877	NM_004599.4(SREBF2):c.346G>C (p.Val116Leu)	SREBF2 (V116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785688	NM_004599.4(SREBF2):c.366C>A (p.Pro122=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2284126	NM_004599.4(SREBF2):c.409C>T (p.Pro137Ser)	SREBF2 (P137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308473	NM_004599.4(SREBF2):c.458C>T (p.Thr153Met)	SREBF2 (T153M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363606	NM_004599.4(SREBF2):c.526A>G (p.Thr176Ala)	SREBF2 (T176A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213164	NM_004599.4(SREBF2):c.676G>T (p.Ala226Ser)	SREBF2 (A226S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777727	NM_004599.4(SREBF2):c.699G>A (p.Ala233=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3037307	NM_004599.4(SREBF2):c.720G>A (p.Pro240=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	SREBF2-related disorder	GLikely benign
Select item 2490103	NM_004599.4(SREBF2):c.790C>G (p.Pro264Ala)	SREBF2 (P264A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214266	NM_004599.4(SREBF2):c.797T>C (p.Met266Thr)	SREBF2 (M266T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245149	NM_004599.4(SREBF2):c.811A>C (p.Asn271His)	SREBF2 (N271H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382878	NM_004599.4(SREBF2):c.826G>A (p.Ala276Thr)	SREBF2 (A276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 1283366	NM_004599.4(SREBF2):c.867+157C>T	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287095	NM_004599.4(SREBF2):c.868-174C>T	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3169931	NM_004599.4(SREBF2):c.916A>G (p.Met306Val)	SREBF2 (M306V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358443	NM_004599.4(SREBF2):c.917T>C (p.Met306Thr)	SREBF2 (M306T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169913	NM_004599.4(SREBF2):c.1004A>G (p.His335Arg)	SREBF2 (H335R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304073	NM_004599.4(SREBF2):c.1054G>A (p.Glu352Lys)	SREBF2 (E352K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169914	NM_004599.4(SREBF2):c.1072A>T (p.Met358Leu)	SREBF2 (M358L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318710	NM_004599.4(SREBF2):c.1105G>A (p.Val369Ile)	SREBF2 (V369I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774750	NM_004599.4(SREBF2):c.1112G>A (p.Arg371Lys)	SREBF2 (R371K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3322607	NM_004599.4(SREBF2):c.1163G>A (p.Arg388His)	SREBF2 (R388H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251749	NM_004599.4(SREBF2):c.1228G>A (p.Gly410Ser)	SREBF2 (G410S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246161	NM_004599.4(SREBF2):c.1235T>C (p.Leu412Pro)	SREBF2 (L412P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322613	NM_004599.4(SREBF2):c.1237G>T (p.Val413Leu)	SREBF2 (V413L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378434	NM_004599.4(SREBF2):c.1240G>A (p.Asp414Asn)	SREBF2 (D414N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169915	NM_004599.4(SREBF2):c.1311C>A (p.Asp437Glu)	SREBF2 (D437E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319325	NM_004599.4(SREBF2):c.1340A>G (p.Tyr447Cys)	SREBF2 (Y447C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169916	NM_004599.4(SREBF2):c.1454G>A (p.Cys485Tyr)	SREBF2 (C485Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361117	NM_004599.4(SREBF2):c.1538C>T (p.Pro513Leu)	SREBF2 (P513L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498146	NM_004599.4(SREBF2):c.1556G>A (p.Arg519His)	SREBF2 (R519H)	Single nucleotide variant (missense variant +1 more)	SREBF2-related disorder	GUncertain significance
Select item 1267041	NM_004599.4(SREBF2):c.1579+37G>A	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244151	NM_004599.4(SREBF2):c.1580-104A>G	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228749	NM_004599.4(SREBF2):c.1668G>T (p.Leu556=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2339911	NM_004599.4(SREBF2):c.1687G>C (p.Val563Leu)	SREBF2 (V563L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042254	NM_004599.4(SREBF2):c.1704G>A (p.Ser568=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	SREBF2-related disorder	GLikely benign
Select item 1273758	NM_004599.4(SREBF2):c.1761+160G>A	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285913	NM_004599.4(SREBF2):c.1784G>C (p.Gly595Ala)	SREBF2 (G595A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2538833	NM_004599.4(SREBF2):c.1831T>G (p.Ser611Ala)	SREBF2 (S611A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322604	NM_004599.4(SREBF2):c.1832C>G (p.Ser611Cys)	SREBF2 (S611C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356808	NM_004599.4(SREBF2):c.1834C>T (p.Arg612Cys)	SREBF2 (R612C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169917	NM_004599.4(SREBF2):c.1843C>A (p.Leu615Met)	SREBF2 (L615M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169918	NM_004599.4(SREBF2):c.1846G>T (p.Ala616Ser)	SREBF2 (A616S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051700	NM_004599.4(SREBF2):c.1866C>T (p.Asn622=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	SREBF2-related disorder	GLikely benign
Select item 781621	NM_004599.4(SREBF2):c.1867G>A (p.Val623Met)	SREBF2 (V623M)	Single nucleotide variant (missense variant +1 more)	SREBF2-related disorder +1 more	GBenign
Select item 3169919	NM_004599.4(SREBF2):c.1931G>A (p.Cys644Tyr)	SREBF2 (C644Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462305	NM_004599.4(SREBF2):c.1936C>T (p.Arg646Trp)	SREBF2 (R646W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322605	NM_004599.4(SREBF2):c.1937G>A (p.Arg646Gln)	SREBF2 (R646Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378691	NM_004599.4(SREBF2):c.1991G>T (p.Arg664Leu)	SREBF2 (R664L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322608	NM_004599.4(SREBF2):c.2029C>T (p.His677Tyr)	SREBF2 (H677Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042832	NM_004599.4(SREBF2):c.2059G>A (p.Ala687Thr)	SREBF2 (A687T)	Single nucleotide variant (missense variant +1 more)	SREBF2-related disorder	GLikely benign
Select item 2382877	NM_004599.4(SREBF2):c.2068G>A (p.Asp690Asn)	SREBF2 (D690N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1269210	NM_004599.4(SREBF2):c.2082G>A (p.Ala694=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3169920	NM_004599.4(SREBF2):c.2111C>T (p.Ala704Val)	SREBF2 (A704V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040992	NM_004599.4(SREBF2):c.2160T>C (p.Ala720=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	SREBF2-related disorder	GLikely benign
Select item 1282262	NM_004599.4(SREBF2):c.2208+134T>G	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264716	NM_004599.4(SREBF2):c.2209-127T>G	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2382677	NM_004599.4(SREBF2):c.2317C>T (p.Arg773Trp)	SREBF2 (R773W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169921	NM_004599.4(SREBF2):c.2368A>G (p.Arg790Gly)	SREBF2 (R790G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711089	NM_004599.4(SREBF2):c.2377+10C>G	SREBF2	Single nucleotide variant (intron variant)	SREBF2-related disorder +1 more	GBenign/Likely benign
Select item 1260164	NM_004599.4(SREBF2):c.2377+28T>C	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289993	NM_004599.4(SREBF2):c.2377+177T>C	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280216	NM_004599.4(SREBF2):c.2377+211G>A	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2330605	NM_004599.4(SREBF2):c.2400C>A (p.His800Gln)	SREBF2 (H800Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204430	NM_004599.4(SREBF2):c.2418C>G (p.Asn806Lys)	SREBF2 (N806K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041080	NM_004599.4(SREBF2):c.2421G>A (p.Leu807=)	SREBF2	Single nucleotide variant (synonymous variant +1 more)	SREBF2-related disorder	GLikely benign
Select item 1178725	NM_004599.4(SREBF2):c.2495+181C>G	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239237	NM_004599.4(SREBF2):c.2496-171C>T	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281235	NM_004599.4(SREBF2):c.2496-133G>A	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2530531	NM_004599.4(SREBF2):c.2504C>T (p.Ser835Phe)	SREBF2 (S835F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411383	NM_004599.4(SREBF2):c.2554G>A (p.Gly852Arg)	SREBF2 (G852R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531018	NM_004599.4(SREBF2):c.2570C>A (p.Pro857Gln)	SREBF2 (P857Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361118	NM_004599.4(SREBF2):c.2576C>T (p.Ser859Phe)	SREBF2 (S859F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1230633	NM_004599.4(SREBF2):c.2580G>C (p.Arg860Ser)	SREBF2 (R860S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2507454	NM_004599.4(SREBF2):c.2597C>T (p.Ser866Phe)	SREBF2 (S866F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470814	NM_004599.4(SREBF2):c.2599G>A (p.Ala867Thr)	SREBF2 (A867T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1290034	NM_004599.4(SREBF2):c.2605+113A>G	SREBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3046094	NM_004599.4(SREBF2):c.2606-7C>T	SREBF2	Single nucleotide variant (intron variant)	SREBF2-related disorder	GLikely benign
Select item 2595964	NM_004599.4(SREBF2):c.2609C>G (p.Pro870Arg)	SREBF2 (P870R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477148	NM_004599.4(SREBF2):c.2609C>T (p.Pro870Leu)	SREBF2 (P870L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312302	NM_004599.4(SREBF2):c.2617A>G (p.Ile873Val)	SREBF2 (I873V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3322611	NM_004599.4(SREBF2):c.2618T>C (p.Ile873Thr)	SREBF2 (I873T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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