ClinVar for Gene (Select 27434) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216383	NM_013284.4(POLM):c.620A>G (p.Glu207Gly)	POLM (E207G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216382	NM_013284.4(POLM):c.365G>A (p.Arg122His)	POLM (R122H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216380	NM_013284.4(POLM):c.213G>T (p.Met71Ile)	POLM (M71I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216379	NM_013284.4(POLM):c.185G>A (p.Cys62Tyr)	POLM (C62Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3216378	NM_013284.4(POLM):c.1199C>G (p.Ala400Gly)	POLM (A320G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216377	NM_013284.4(POLM):c.1057C>T (p.Arg353Cys)	LOC129998346, POLM (R353C)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2657421	NM_013284.4(POLM):c.441G>A (p.Thr147=)	POLM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657420	NM_013284.4(POLM):c.659G>C (p.Gly220Ala)	POLM (G220A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657419	NM_013284.4(POLM):c.663G>A (p.Val221=)	POLM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2598939	NM_013284.4(POLM):c.688C>T (p.Arg230Cys)	POLM (R230C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2596567	NM_013284.4(POLM):c.722C>T (p.Thr241Ile)	POLM (T241I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2565447	NM_013284.4(POLM):c.1336C>T (p.Arg446Cys)	POLM (R446C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536438	NM_013284.4(POLM):c.958G>A (p.Gly320Ser)	LOC129998347, POLM (G320S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518626	NM_013284.4(POLM):c.1243G>A (p.Val415Met)	POLM (V378M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494807	NM_013284.4(POLM):c.290C>A (p.Pro97Gln)	POLM (P97Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468978	NM_013284.4(POLM):c.152C>A (p.Ala51Glu)	POLM (A51E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467695	NM_013284.4(POLM):c.710T>C (p.Met237Thr)	POLM (M237T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2423978	NC_000007.13:g.(?_43810758)_(44747598_?)del	AEBP1, BLVRA +17 more	Deletion	not provided	GUncertain significance
Select item 2381653	NM_013284.4(POLM):c.284C>T (p.Thr95Ile)	POLM (T95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380451	NM_013284.4(POLM):c.1324C>T (p.Arg442Trp)	POLM (R362W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376527	NM_013284.4(POLM):c.258G>C (p.Arg86Ser)	POLM (R86S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373360	NM_013284.4(POLM):c.1469A>G (p.Glu490Gly)	POLM (E453G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368464	NM_013284.4(POLM):c.1150G>A (p.Ala384Thr)	POLM (A347T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314007	NM_013284.4(POLM):c.527T>G (p.Leu176Arg)	POLM (L176R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313805	NM_013284.4(POLM):c.1010A>T (p.His337Leu)	LOC129998346, POLM (H337L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311081	NM_013284.4(POLM):c.706A>G (p.Thr236Ala)	POLM (T236A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279444	NM_013284.4(POLM):c.529C>T (p.Leu177Phe)	POLM (L177F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263395	NM_013284.4(POLM):c.1387G>C (p.Asp463His)	POLM (D463H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253039	NM_013284.4(POLM):c.13C>T (p.Arg5Trp)	POLM (R5W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235942	NM_013284.4(POLM):c.70T>G (p.Ser24Ala)	POLM (S24A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234426	NM_013284.4(POLM):c.766C>T (p.Arg256Trp)	POLM (R256W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233099	NM_013284.4(POLM):c.874C>G (p.Arg292Gly)	POLM (A246G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210439	NM_013284.4(POLM):c.551C>T (p.Ser184Leu)	POLM (S184L)	Single nucleotide variant (missense variant +1 more)	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 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 781762	NM_013284.4(POLM):c.1399-21del	MIR6838, POLM (K478fs +1 more)	Deletion (non-coding transcript variant +2 more)	not provided	GBenign
Select item 732965	NM_013284.4(POLM):c.474G>A (p.Glu158=)	POLM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 686635	GRCh37/hg19 7p13(chr7:44085864-44134894)x3	DBNL, PGAM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 493558	GRCh37/hg19 7p13(chr7:43884184-44297732)x3	AEBP1, CAMK2B +11 more	Copy number gain	not provided	GLikely benign
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
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 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 59