108[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 3042137	NM_000665.5(ACHE):c.1723+152C>A	ACHE (P599T)	Single nucleotide variant (missense variant +1 more)	ACHE-related disorder	GLikely benign
Select item 3261647	NM_000665.5(ACHE):c.1711C>G (p.Leu571Val)	ACHE (L483V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261635	NM_000665.5(ACHE):c.1547G>A (p.Arg516His)	ACHE (R582H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657777	NM_000665.5(ACHE):c.1491G>A (p.Thr497=)	ACHE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272935	NM_000665.5(ACHE):c.1450T>C (p.Phe484Leu)	ACHE (F484L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737321	NM_000665.5(ACHE):c.1434C>T (p.His478=)	ACHE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2563353	NM_000665.5(ACHE):c.1415T>C (p.Leu472Pro)	ACHE (L472P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358297	NM_000665.5(ACHE):c.1378G>A (p.Val460Ile)	ACHE (V460I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136470	NM_000665.5(ACHE):c.1372G>A (p.Ala458Thr)	ACHE (A458T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718317	NM_000665.5(ACHE):c.1323C>T (p.Pro441=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3261641	NM_000665.5(ACHE):c.1289G>A (p.Ser430Asn)	ACHE (S430N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266042	NM_000665.5(ACHE):c.1258G>A (p.Glu420Lys)	ACHE (E420K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136467	NM_000665.5(ACHE):c.1235A>G (p.His412Arg)	ACHE (H412R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136464	NM_000665.5(ACHE):c.1225G>C (p.Val409Leu)	ACHE (V475L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607070	NM_000665.5(ACHE):c.1160G>C (p.Arg387Pro)	ACHE (R387P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 18335	NM_000665.5(ACHE):c.1057C>A (p.His353Asn)	ACHE (H353N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 741675	NM_000665.5(ACHE):c.1044C>T (p.Asn348=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1049898	NM_000665.5(ACHE):c.1033G>A (p.Ala345Thr)	ACHE (A345T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 768188	NM_000665.5(ACHE):c.1032G>A (p.Glu344=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2256439	NM_000665.5(ACHE):c.914G>A (p.Arg305Gln)	ACHE (R371Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 748832	NM_000665.5(ACHE):c.846G>C (p.Leu282=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733662	NM_000665.5(ACHE):c.807G>A (p.Thr269=)	ACHE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2235561	NM_000665.5(ACHE):c.791A>G (p.Asn264Ser)	ACHE (N331S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305779	NM_000665.5(ACHE):c.726G>A (p.Met242Ile)	ACHE (M242I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283523	NM_000665.5(ACHE):c.530T>C (p.Leu177Pro)	ACHE (L244P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295799	NM_000665.5(ACHE):c.493G>A (p.Asp165Asn)	ACHE (D231N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591999	NM_000665.5(ACHE):c.439G>A (p.Val147Ile)	ACHE (V213I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480619	NM_000665.5(ACHE):c.404C>G (p.Pro135Arg)	ACHE (P201R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780701	NM_000665.5(ACHE):c.403C>G (p.Pro135Ala)	ACHE (P135A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 726502	NM_000665.5(ACHE):c.266G>A (p.Gly89Glu)	ACHE (G156E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2370792	NM_000665.5(ACHE):c.154C>A (p.Arg52Ser)	ACHE (R118S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785228	NM_000665.5(ACHE):c.101G>A (p.Arg34Gln)	ACHE (R100Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2618886	NM_000665.5(ACHE):c.82G>A (p.Gly28Arg)	ACHE (G28R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229097	NM_000665.5(ACHE):c.40G>A (p.Ala14Thr)	ACHE (A80T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 58