23495[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +248 more	Copy number gain	See cases	GPathogenic
Select item 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	MIR6778, MPRIP +158 more	Copy number loss	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146492	GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1	ALKBH5, ATPAF2 +141 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	DRC3, LOC130060351 +248 more	Duplication	Autism	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57224	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	ALKBH5, ATPAF2 +161 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 322018	NM_012452.3(TNFRSF13B):c.*414G>A	TNFRSF13B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 322019	NM_012452.3(TNFRSF13B):c.*371C>T	TNFRSF13B	Single nucleotide variant (3 prime UTR variant)	Common Variable Immune Deficiency, Dominant	GUncertain significance
Select item 322020	NM_012452.3(TNFRSF13B):c.*353A>C	TNFRSF13B	Single nucleotide variant (3 prime UTR variant)	Common Variable Immune Deficiency, Dominant	GLikely benign
Select item 322021	NM_012452.3(TNFRSF13B):c.*226A>G	TNFRSF13B	Single nucleotide variant (3 prime UTR variant)	Common Variable Immune Deficiency, Dominant	GLikely benign
Select item 322022	NM_012452.3(TNFRSF13B):c.*173G>A	TNFRSF13B	Single nucleotide variant (3 prime UTR variant)	Common Variable Immune Deficiency, Dominant +1 more	GBenign
Select item 933200	NM_012452.3(TNFRSF13B):c.*98dup	TNFRSF13B	Duplication (3 prime UTR variant)	not specified	GBenign
Select item 36880	NM_012452.3(TNFRSF13B):c.86_88del	TNFRSF13B	Deletion (3 prime UTR variant)	not specified +1 more	GBenign
Select item 3365933	NM_012452.3(TNFRSF13B):c.880T>C (p.Ter294Gln)	TNFRSF13B	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2745197	NM_012452.3(TNFRSF13B):c.872del (p.Pro291fs)	TNFRSF13B (P291fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 1624116	NM_012452.3(TNFRSF13B):c.870C>T (p.Gly290=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2	GLikely benign
Select item 1141168	NM_012452.3(TNFRSF13B):c.870C>A (p.Gly290=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2	GLikely benign
Select item 2745207	NM_012452.3(TNFRSF13B):c.869G>T (p.Gly290Val)	TNFRSF13B (G290V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 1999986	NM_012452.3(TNFRSF13B):c.865G>A (p.Gly289Arg)	TNFRSF13B (G289R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 1526187	NM_012452.3(TNFRSF13B):c.842_857del (p.Ile281fs)	TNFRSF13B (I281fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 641380	NM_012452.3(TNFRSF13B):c.857C>T (p.Ala286Val)	TNFRSF13B (A286V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 322023	NM_012452.3(TNFRSF13B):c.857C>A (p.Ala286Asp)	TNFRSF13B (A286D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2 +1 more	GUncertain significance
Select item 2130593	NM_012452.3(TNFRSF13B):c.856G>A (p.Ala286Thr)	TNFRSF13B (A286T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 797885	NM_012452.3(TNFRSF13B):c.843T>C (p.Ile281=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2	GLikely benign
Select item 2961228	NM_012452.3(TNFRSF13B):c.842T>C (p.Ile281Thr)	TNFRSF13B (I281T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 2148657	NM_012452.3(TNFRSF13B):c.840del (p.Ile281fs)	TNFRSF13B (I281fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 582908	NM_012452.3(TNFRSF13B):c.838G>C (p.Gly280Arg)	TNFRSF13B (G280R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 260259	NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2 +3 more	GBenign
Select item 538710	NM_012452.3(TNFRSF13B):c.828C>G (p.Asp276Glu)	TNFRSF13B (D276E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 3180240	NM_012452.3(TNFRSF13B):c.824C>T (p.Pro275Leu)	TNFRSF13B (P275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 640348	NM_012452.3(TNFRSF13B):c.823C>T (p.Pro275Ser)	TNFRSF13B (P275S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2026708	NM_012452.3(TNFRSF13B):c.813C>T (p.Cys271=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2	GLikely benign
Select item 1713658	NM_012452.3(TNFRSF13B):c.811T>C (p.Cys271Arg)	TNFRSF13B (C271R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 322024	NM_012452.3(TNFRSF13B):c.797C>T (p.Thr266Ile)	TNFRSF13B (T266I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2 +3 more	GUncertain significance
Select item 1696714	NM_012452.3(TNFRSF13B):c.788C>T (p.Thr263Ile)	TNFRSF13B (T263I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 1507526	NM_012452.3(TNFRSF13B):c.787A>G (p.Thr263Ala)	TNFRSF13B (T263A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 949604	NM_012452.3(TNFRSF13B):c.785A>T (p.His262Leu)	TNFRSF13B (H262L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1079905	NM_012452.3(TNFRSF13B):c.780G>A (p.Gly260=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2	GLikely benign
Select item 916321	NM_012452.3(TNFRSF13B):c.779G>A (p.Gly260Glu)	TNFRSF13B (G260E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1957894	NM_012452.3(TNFRSF13B):c.778G>A (p.Gly260Arg)	TNFRSF13B (G260R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 1355630	NM_012452.3(TNFRSF13B):c.777G>A (p.Trp259Ter)	TNFRSF13B (W259*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 653420	NM_012452.3(TNFRSF13B):c.776G>A (p.Trp259Ter)	TNFRSF13B (W259*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 1561435	NM_012452.3(TNFRSF13B):c.774G>A (p.Arg258=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2	GLikely benign
Select item 1116600	NM_012452.3(TNFRSF13B):c.765T>C (p.Cys255=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2	GLikely benign
Select item 2171285	NM_012452.3(TNFRSF13B):c.764G>A (p.Cys255Tyr)	TNFRSF13B (C255Y)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2 +1 more	GUncertain significance
Select item 538708	NM_012452.3(TNFRSF13B):c.754G>A (p.Asp252Asn)	TNFRSF13B (D252N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2153636	NM_012452.3(TNFRSF13B):c.753C>T (p.Pro251=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2	GLikely benign
Select item 1041356	NM_012452.3(TNFRSF13B):c.753del (p.Asp252fs)	TNFRSF13B (D252fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 2	GUncertain significance
Select item 322025	NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu)	TNFRSF13B (P251L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign

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