26924[HGNC] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 2243168	NM_003847.3(PEX11A):c.25A>C (p.Asn9His)	LOC130057887, PEX11A +1 more (N9H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267528	NM_003847.3(PEX11A):c.17G>A (p.Arg6His)	LOC130057887, PEX11A +1 more (R6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529041	NM_003847.3(PEX11A):c.7G>T (p.Ala3Ser)	LOC130057887, PEX11A +1 more (A3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190424	NM_020212.2(WDR93):c.19A>T (p.Ser7Cys)	WDR93 (S7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479279	NM_020212.2(WDR93):c.44C>T (p.Pro15Leu)	WDR93 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276824	NM_020212.2(WDR93):c.47T>C (p.Ile16Thr)	WDR93 (I16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333035	NM_020212.2(WDR93):c.134A>T (p.Asp45Val)	WDR93 (D45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333030	NM_020212.2(WDR93):c.139G>C (p.Asp47His)	WDR93 (D47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299520	NM_020212.2(WDR93):c.190G>C (p.Val64Leu)	WDR93 (V64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333033	NM_020212.2(WDR93):c.264G>C (p.Gln88His)	WDR93 (Q88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183287	NM_020212.2(WDR93):c.280T>C (p.Tyr94His)	WDR93 (Y94H)	Single nucleotide variant (missense variant)	Autistic spectrum disorder with isolated skills	GLikely pathogenic
Select item 2260272	NM_020212.2(WDR93):c.286C>G (p.Pro96Ala)	WDR93 (P96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333034	NM_020212.2(WDR93):c.410C>T (p.Ala137Val)	WDR93 (A137V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492108	NM_020212.2(WDR93):c.556G>A (p.Glu186Lys)	WDR93 (E186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259660	NM_020212.2(WDR93):c.599A>G (p.Glu200Gly)	WDR93 (E200G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333031	NM_020212.2(WDR93):c.631C>T (p.Leu211Phe)	WDR93 (L211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664562	NM_020212.2(WDR93):c.646G>A (p.Gly216Arg)	WDR93 (G216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493382	NM_020212.2(WDR93):c.661G>C (p.Asp221His)	WDR93 (D221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222489	NM_020212.2(WDR93):c.694A>G (p.Lys232Glu)	WDR93 (K232E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190425	NM_020212.2(WDR93):c.716T>C (p.Leu239Pro)	WDR93 (L239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348997	NM_020212.2(WDR93):c.736A>G (p.Lys246Glu)	WDR93 (K246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522857	NM_020212.2(WDR93):c.749C>T (p.Pro250Leu)	WDR93 (P250L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361640	NM_020212.2(WDR93):c.754C>A (p.Leu252Met)	WDR93 (L252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 595821	NM_020212.2(WDR93):c.834T>C (p.Ser278=)	WDR93	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2357410	NM_020212.2(WDR93):c.862C>G (p.Pro288Ala)	WDR93 (P288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645698	NM_020212.2(WDR93):c.897C>T (p.Ser299=)	WDR93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190426	NM_020212.2(WDR93):c.944C>A (p.Ser315Tyr)	WDR93 (S315Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204448	NM_020212.2(WDR93):c.1003G>A (p.Ala335Thr)	WDR93 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645699	NM_020212.2(WDR93):c.1052+3G>A	WDR93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3190418	NM_020212.2(WDR93):c.1070T>G (p.Phe357Cys)	WDR93 (F357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190419	NM_020212.2(WDR93):c.1103C>T (p.Pro368Leu)	WDR93 (P368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622562	NM_020212.2(WDR93):c.1178A>G (p.Tyr393Cys)	WDR93 (Y393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190420	NM_020212.2(WDR93):c.1304T>G (p.Val435Gly)	WDR93 (V435G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259977	NM_020212.2(WDR93):c.1444A>G (p.Lys482Glu)	MESP1, WDR93 (K454E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190421	NM_020212.2(WDR93):c.1480G>A (p.Ala494Thr)	MESP1, WDR93 (A466T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618048	NM_020212.2(WDR93):c.1535T>C (p.Leu512Pro)	MESP1, WDR93 (L512P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190422	NM_020212.2(WDR93):c.1705G>A (p.Glu569Lys)	MESP1, WDR93 (E541K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604764	NM_020212.2(WDR93):c.1769A>G (p.Asp590Gly)	MESP1, WDR93 (D562G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190423	NM_020212.2(WDR93):c.1846C>T (p.Pro616Ser)	MESP1, WDR93 (P616S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267039	NM_020212.2(WDR93):c.1847C>T (p.Pro616Leu)	MESP1, WDR93 (P588L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344448	NM_020212.2(WDR93):c.1916A>C (p.Gln639Pro)	MESP1, WDR93 (Q611P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154044	GRCh38/hg38 15q26.1(chr15:89738724-89788051)x1	ANPEP, LOC130057888 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2306007	NM_020212.2(WDR93):c.1964A>C (p.Tyr655Ser)	MESP1, WDR93 (Y627S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552854	NM_020212.2(WDR93):c.1967G>A (p.Arg656Gln)	MESP1, WDR93 (R628Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	Bloom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3063386	GRCh37/hg19 15q26.1(chr15:90273673-90331282)x1	ANPEP, MESP1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 2685530	GRCh37/hg19 15q26.1(chr15:89976407-90387346)x1	PLIN1, TICRR +10 more	Copy number loss	not provided	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1448361	NC_000015.9:g.(?_89859982)_(90294462_?)dup	MIR9-3, WDR93 +9 more	Duplication	not provided	GUncertain significance
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815745	GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3	ARPIN-AP3S2, ZNF710 +11 more	Copy number gain	not provided	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253910	GRCh37/hg19 15q26.1(chr15:90220524-90265367)x1	PEX11A, PLIN1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 86