ClinVar for Gene (Select 245812) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3239517	NM_152755.2(CNPY4):c.-25G>A	CNPY4, LOC129998899 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3146657	NM_152755.2(CNPY4):c.569C>T (p.Pro190Leu)	CNPY4, TAF6 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146656	NM_152755.2(CNPY4):c.142C>G (p.Leu48Val)	CNPY4, TAF6 (L48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2619080	NM_152755.2(CNPY4):c.287G>A (p.Arg96Gln)	CNPY4, TAF6 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2555432	NM_152755.2(CNPY4):c.566T>C (p.Leu189Pro)	CNPY4, TAF6 (L189P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536207	NM_152755.2(CNPY4):c.696C>A (p.Asp232Glu)	CNPY4, TAF6 (D232E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518179	NM_152755.2(CNPY4):c.187G>A (p.Glu63Lys)	CNPY4, TAF6 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515842	NM_152755.2(CNPY4):c.317G>A (p.Arg106His)	CNPY4, TAF6 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470257	NM_152755.2(CNPY4):c.62C>T (p.Ala21Val)	CNPY4, LOC129998899 +1 more (A21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2396017	NM_152755.2(CNPY4):c.166G>A (p.Gly56Ser)	CNPY4, TAF6 (G56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356213	NM_152755.2(CNPY4):c.-52A>G	TAF6, CNPY4 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353788	NM_152755.2(CNPY4):c.139G>C (p.Glu47Gln)	CNPY4, TAF6 (E47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329244	NM_152755.2(CNPY4):c.692G>A (p.Gly231Glu)	CNPY4, TAF6 (G231E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299473	NM_152755.2(CNPY4):c.241G>C (p.Val81Leu)	CNPY4, TAF6 (V81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296165	NM_152755.2(CNPY4):c.586T>A (p.Cys196Ser)	CNPY4, TAF6 (C196S)	Single nucleotide variant (missense variant)	not specified	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	MOSPD3, PPP1R35 +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
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 284982	NM_152755.2(CNPY4):c.-23TTGT[1]	TAF6, CNPY4 +1 more (T8fs)	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	LOC129998966, LOC129998967 +309 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +124 more	Copy number gain	See cases	GLikely benign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44