ClinVar for Gene (Select 55262) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	MCM7, SPACDR +106 more	Deletion	not provided	GPathogenic
Select item 3181986	NM_018275.5(TRAPPC14):c.889C>T (p.Pro297Ser)	TRAPPC14 (P297S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181985	NM_018275.5(TRAPPC14):c.1708G>A (p.Glu570Lys)	TRAPPC14 (E301K +1 more)	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 3056678	NM_018275.5(TRAPPC14):c.252G>C (p.Ser84=)	LOC129998908, TRAPPC14	Single nucleotide variant (synonymous variant +1 more)	TRAPPC14-related disorder	GLikely benign
Select item 3044098	NM_018275.5(TRAPPC14):c.994-4G>A	TRAPPC14	Single nucleotide variant (intron variant)	TRAPPC14-related disorder	GLikely benign
Select item 3039733	NM_018275.5(TRAPPC14):c.813C>T (p.Pro271=)	TRAPPC14	Single nucleotide variant (synonymous variant)	TRAPPC14-related disorder	GBenign
Select item 3032043	NM_018275.5(TRAPPC14):c.1265G>A (p.Arg422His)	TRAPPC14 (R153H +1 more)	Single nucleotide variant (missense variant)	TRAPPC14-related disorder	GLikely benign
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 2657742	NM_018275.5(TRAPPC14):c.244C>T (p.Leu82=)	LOC129998908, TRAPPC14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657741	NM_018275.5(TRAPPC14):c.550G>A (p.Val184Ile)	TRAPPC14 (V184I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2657740	NM_018275.5(TRAPPC14):c.1437C>T (p.Ser479=)	TRAPPC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	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	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 1192633	NM_018275.5(TRAPPC14):c.1396-43T>C	TRAPPC14	Single nucleotide variant (intron variant)	Microcephaly 25, primary, autosomal recessive	GBenign
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 1030643	NM_018275.5(TRAPPC14):c.1670A>C (p.Asp557Ala)	TRAPPC14 (D288A +1 more)	Single nucleotide variant (missense variant)	Microcephaly 25, primary, autosomal recessive	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 619595	NM_018275.5(TRAPPC14):c.613G>T (p.Glu205Ter)	TRAPPC14 (E205*)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 25, primary, autosomal recessive	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 253693	GRCh37/hg19 7q22.1(chr7:99724620-99972850)x3	MBLAC1, LAMTOR4 +7 more	Copy number gain	See cases	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	LOC129389880, LOC129389881 +2213 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 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	ADAP1, ADCK2 +4736 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 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	AP1S1, ACHE +300 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41