25205[HGNC] - ClinVar

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Items: 42

	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 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 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +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 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 2498235	NM_145314.3(UCMA):c.413C>G (p.Thr138Ser)	UCMA (T106S +2 more)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 3185960	NM_145314.3(UCMA):c.404G>A (p.Arg135His)	UCMA (R103H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185959	NM_145314.3(UCMA):c.385C>G (p.Pro129Ala)	UCMA (P129A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185958	NM_145314.3(UCMA):c.359G>A (p.Arg120His)	UCMA (R88H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349554	NM_145314.3(UCMA):c.338G>A (p.Arg113Gln)	UCMA (R113Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185957	NM_145314.3(UCMA):c.337C>T (p.Arg113Trp)	UCMA (R81W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185955	NM_145314.3(UCMA):c.320A>G (p.Glu107Gly)	UCMA (E107G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185954	NM_145314.3(UCMA):c.316G>A (p.Asp106Asn)	UCMA (D74N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185953	NM_145314.3(UCMA):c.304G>C (p.Glu102Gln)	UCMA (E102Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679608	NM_145314.3(UCMA):c.17_220+223del	UCMA	Deletion (splice donor variant +1 more)	Autism	GUncertain significance
Select item 3185952	NM_145314.3(UCMA):c.190C>T (p.Arg64Trp)	UCMA (R64W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523682	NM_145314.3(UCMA):c.187A>C (p.Lys63Gln)	UCMA (K63Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509636	NM_145314.3(UCMA):c.145A>G (p.Met49Val)	UCMA (M49V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242230	NM_145314.3(UCMA):c.134A>G (p.Gln45Arg)	UCMA (Q45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249480	NM_145314.3(UCMA):c.126T>G (p.Asp42Glu)	UCMA (D42E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185951	NM_145314.3(UCMA):c.117G>A (p.Ala39=)	UCMA	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 789201	NM_145314.3(UCMA):c.95T>C (p.Met32Thr)	UCMA (M32T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1447308	NC_000010.10:g.(?_12111033)_(13342042_?)dup	CAMK1D, CCDC3 +8 more	Duplication	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +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 929362	GRCh37/hg19 10p13(chr10:12805430-13306566)x3	CAMK1D, CCDC3 +3 more	Copy number gain	See cases	GUncertain significance
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 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563781	GRCh37/hg19 10p13(chr10:12802555-14847149)x1	OPTN, BEND7 +9 more	Copy number loss	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 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +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 394167	GRCh37/hg19 10p13(chr10:12821353-13275585)x3	CAMK1D, CCDC3 +3 more	Copy number gain	See cases	GLikely benign
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 42