402682[Gene ID] - ClinVar

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Items: 42

	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 2388761	NM_001430944.2(UFSP1):c.650T>C (p.Leu217Ser)	UFSP1 (L141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374594	NM_001430944.2(UFSP1):c.622C>T (p.Leu208Phe)	UFSP1 (L132F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330801	NM_001430944.2(UFSP1):c.557T>C (p.Val186Ala)	UFSP1 (V110A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545730	NM_001430944.2(UFSP1):c.523A>G (p.Lys175Glu)	UFSP1 (K99E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377988	NM_001430944.2(UFSP1):c.487G>A (p.Val163Ile)	UFSP1 (V87I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345764	NM_001430944.2(UFSP1):c.472G>A (p.Gly158Ser)	UFSP1 (G82S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342716	NM_001430944.2(UFSP1):c.434C>G (p.Ala145Gly)	UFSP1 (A69G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464483	NM_001430944.2(UFSP1):c.419G>C (p.Gly140Ala)	UFSP1 (G64A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467269	NM_001430944.2(UFSP1):c.374G>A (p.Arg125Lys)	UFSP1 (R49K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595459	NM_001430944.2(UFSP1):c.370G>A (p.Glu124Lys)	UFSP1 (E48K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569620	NM_001430944.2(UFSP1):c.343C>G (p.Arg115Gly)	UFSP1 (R39G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352581	NM_001430944.2(UFSP1):c.322G>A (p.Gly108Arg)	UFSP1 (G32R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323175	NM_001430944.2(UFSP1):c.292C>G (p.Leu98Val)	UFSP1 (L22V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373055	NM_001430944.2(UFSP1):c.284A>T (p.Glu95Val)	UFSP1 (E19V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186028	NM_001430944.2(UFSP1):c.283G>A (p.Glu95Lys)	UFSP1 (E19K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235630	NM_001430944.2(UFSP1):c.281T>A (p.Val94Glu)	UFSP1 (V18E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598763	NM_001430944.2(UFSP1):c.263G>A (p.Arg88Gln)	UFSP1 (R12Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495680	NM_001430944.2(UFSP1):c.247G>A (p.Gly83Ser)	UFSP1 (G7S +1 more)	Single nucleotide variant (missense variant)	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: 42