16858[HGNC] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 145555	GRCh38/hg38 10p14(chr10:10750899-11713049)x1	CELF2, CELF2-AS1 +53 more	Copy number loss	See cases	GUncertain significance
Select item 149003	GRCh38/hg38 10p14(chr10:10940950-11775908)x1	CELF2, CELF2-AS1 +54 more	Copy number loss	See cases	GUncertain significance
Select item 2519595	NM_014688.5(USP6NL):c.2423C>T (p.Pro808Leu)	USP6NL (P831L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404250	NM_014688.5(USP6NL):c.2389G>T (p.Ala797Ser)	USP6NL (A814S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336748	NM_014688.5(USP6NL):c.2380G>A (p.Ala794Thr)	USP6NL (A745T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470302	NM_014688.5(USP6NL):c.2333C>T (p.Pro778Leu)	USP6NL (P729L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187842	NM_014688.5(USP6NL):c.2326G>A (p.Gly776Ser)	USP6NL (G793S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360027	NM_014688.5(USP6NL):c.2212G>A (p.Glu738Lys)	USP6NL (E755K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479605	NM_014688.5(USP6NL):c.2116G>A (p.Gly706Ser)	USP6NL (G657S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620249	NM_014688.5(USP6NL):c.2099T>C (p.Val700Ala)	USP6NL (V649A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410958	NM_014688.5(USP6NL):c.2067C>G (p.Ser689Arg)	USP6NL (S638R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257977	NM_014688.5(USP6NL):c.2048A>G (p.Lys683Arg)	USP6NL (K683R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187839	NM_014688.5(USP6NL):c.2044G>C (p.Glu682Gln)	USP6NL (E631Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592099	NM_014688.5(USP6NL):c.2039C>T (p.Ser680Phe)	USP6NL (S631F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552194	NM_014688.5(USP6NL):c.1994A>G (p.Asn665Ser)	USP6NL (N682S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377176	NM_014688.5(USP6NL):c.1903C>T (p.Pro635Ser)	USP6NL (P584S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238636	NM_014688.5(USP6NL):c.1871G>A (p.Arg624Gln)	USP6NL (R573Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187838	NM_014688.5(USP6NL):c.1822C>G (p.Gln608Glu)	USP6NL (Q608E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557743	NM_014688.5(USP6NL):c.1816A>G (p.Lys606Glu)	USP6NL (K623E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275738	NM_014688.5(USP6NL):c.1756C>T (p.Pro586Ser)	USP6NL (P535S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330367	NM_014688.5(USP6NL):c.1739C>T (p.Ala580Val)	USP6NL (A603V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187837	NM_014688.5(USP6NL):c.1724A>G (p.Gln575Arg)	USP6NL (Q526R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331670	NM_014688.5(USP6NL):c.1714G>T (p.Ala572Ser)	USP6NL (A572S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258596	NM_014688.5(USP6NL):c.1682G>A (p.Ser561Asn)	USP6NL (S561N +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462535	NM_014688.5(USP6NL):c.1619A>T (p.Glu540Val)	USP6NL (E489V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187836	NM_014688.5(USP6NL):c.1613A>T (p.Asp538Val)	USP6NL (D538V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187835	NM_014688.5(USP6NL):c.1598A>G (p.Lys533Arg)	USP6NL (K550R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554022	NM_014688.5(USP6NL):c.1541C>T (p.Ala514Val)	USP6NL (A463V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187834	NM_014688.5(USP6NL):c.1526G>T (p.Arg509Leu)	USP6NL (R460L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529991	NM_014688.5(USP6NL):c.1511T>C (p.Met504Thr)	USP6NL (M453T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331671	NM_014688.5(USP6NL):c.1492A>G (p.Arg498Gly)	USP6NL (R447G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187833	NM_014688.5(USP6NL):c.1469C>T (p.Pro490Leu)	USP6NL (P490L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331673	NM_014688.5(USP6NL):c.1454C>T (p.Pro485Leu)	USP6NL (P508L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187832	NM_014688.5(USP6NL):c.1396C>T (p.His466Tyr)	USP6NL (H417Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542036	NM_014688.5(USP6NL):c.1352G>A (p.Arg451Lys)	USP6NL (R451K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187830	NM_014688.5(USP6NL):c.1271C>T (p.Thr424Met)	USP6NL (T375M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364393	NM_014688.5(USP6NL):c.1247C>T (p.Pro416Leu)	USP6NL (P365L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331668	NM_014688.5(USP6NL):c.1220C>T (p.Ala407Val)	USP6NL (A407V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509761	NM_014688.5(USP6NL):c.1216G>C (p.Gly406Arg)	USP6NL (G355R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477362	NM_014688.5(USP6NL):c.1198A>C (p.Ser400Arg)	USP6NL (S400R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322113	NM_014688.5(USP6NL):c.1193T>G (p.Leu398Arg)	USP6NL (L349R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241905	NM_014688.5(USP6NL):c.1184C>G (p.Pro395Arg)	USP6NL (P418R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233272	NM_014688.5(USP6NL):c.1173C>A (p.Ser391Arg)	USP6NL (S340R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357631	NM_014688.5(USP6NL):c.1157G>A (p.Ser386Asn)	USP6NL (S335N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271392	NM_014688.5(USP6NL):c.1144G>A (p.Val382Ile)	USP6NL (V331I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187829	NM_014688.5(USP6NL):c.1126G>A (p.Glu376Lys)	USP6NL (E325K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411320	NM_014688.5(USP6NL):c.1114C>A (p.Gln372Lys)	USP6NL (Q321K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331669	NM_014688.5(USP6NL):c.1090G>C (p.Glu364Gln)	USP6NL (E364Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331672	NM_014688.5(USP6NL):c.1070C>T (p.Pro357Leu)	USP6NL (P357L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187828	NM_014688.5(USP6NL):c.1054G>A (p.Ala352Thr)	USP6NL (A352T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288247	NM_014688.5(USP6NL):c.1052G>A (p.Arg351Gln)	USP6NL (R302Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537000	NM_014688.5(USP6NL):c.1003G>A (p.Asp335Asn)	USP6NL (D335N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297305	NM_014688.5(USP6NL):c.949G>C (p.Glu317Gln)	USP6NL (E340Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187844	NM_014688.5(USP6NL):c.838C>G (p.Leu280Val)	USP6NL (L297V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399333	NM_014688.5(USP6NL):c.820G>A (p.Asp274Asn)	USP6NL (D291N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282531	NM_014688.5(USP6NL):c.818T>G (p.Leu273Arg)	USP6NL (L224R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247152	NM_014688.5(USP6NL):c.772A>G (p.Ile258Val)	USP6NL (I275V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265538	NM_014688.5(USP6NL):c.632A>C (p.Lys211Thr)	USP6NL (K211T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615113	NM_014688.5(USP6NL):c.618C>A (p.Phe206Leu)	USP6NL (F157L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187843	NM_014688.5(USP6NL):c.532A>G (p.Ile178Val)	USP6NL (I195V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621866	NM_014688.5(USP6NL):c.278T>C (p.Phe93Ser)	USP6NL (F44S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331674	NM_014688.5(USP6NL):c.259T>C (p.Tyr87His)	USP6NL (Y104H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187841	NM_014688.5(USP6NL):c.170C>G (p.Pro57Arg)	USP6NL (P80R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455148	NM_014688.5(USP6NL):c.164A>T (p.Glu55Val)	USP6NL (E72V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509651	NM_014688.5(USP6NL):c.58G>A (p.Ala20Thr)	USP6NL (A20T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3063156	GRCh37/hg19 10p14(chr10:10732066-11771367)x3	CELF2, USP6NL	Copy number gain	not specified	GUncertain significance
Select item 3063134	GRCh37/hg19 10p14(chr10:10296118-11974769)x1	CELF2, ECHDC3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 2684595	GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3	BEND7, CAMK1D +15 more	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 1809339	GRCh37/hg19 10p14(chr10:7636590-11590970)x3	ATP5F1C, CELF2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 686673	GRCh37/hg19 10p14-13(chr10:11435205-12314999)x1	CDC123, DHTKD1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563760	GRCh37/hg19 10p14(chr10:10680064-11529624)x3	USP6NL, CELF2	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443077	GRCh37/hg19 10p14(chr10:10738799-11771542)x3	CELF2, USP6NL	Copy number gain	See cases	GUncertain significance
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 96