Related gene-specific medical variations for Gene (Select 10721) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308749	NM_199420.4(POLQ):c.129C>A (p.Pro43=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3308734	NM_199420.4(POLQ):c.45A>G (p.Ser15=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3308693	NM_199420.4(POLQ):c.77A>C (p.Asp26Ala)	LOC112872292, POLQ (D26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308651	NM_199420.4(POLQ):c.116T>C (p.Leu39Pro)	LOC112872292, POLQ (L39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308513	NM_199420.4(POLQ):c.52G>C (p.Asp18His)	LOC112872292, POLQ (D18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230188	NM_199420.4(POLQ):c.99C>T (p.Phe33=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3230187	NM_199420.4(POLQ):c.95A>G (p.Gln32Arg)	LOC112872292, POLQ (Q32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230183	NM_199420.4(POLQ):c.8T>A (p.Leu3His)	LOC112872292, POLQ (L3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230177	NM_199420.4(POLQ):c.79A>G (p.Ser27Gly)	LOC112872292, POLQ (S27G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3230100	NM_199420.4(POLQ):c.62C>G (p.Ser21Trp)	LOC112872292, POLQ (S21W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229994	NM_199420.4(POLQ):c.42A>G (p.Glu14=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3229925	NM_199420.4(POLQ):c.32G>C (p.Arg11Pro)	LOC112872292, POLQ (R11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229836	NM_199420.4(POLQ):c.143G>A (p.Cys48Tyr)	LOC112872292, POLQ (C48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229830	NM_199420.4(POLQ):c.136G>T (p.Gly46Cys)	LOC112872292, POLQ (G46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229820	NM_199420.4(POLQ):c.119G>C (p.Ser40Thr)	LOC112872292, POLQ (S40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229813	NM_199420.4(POLQ):c.113T>C (p.Val38Ala)	LOC112872292, POLQ (V38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229807	NM_199420.4(POLQ):c.105C>T (p.Ser35=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3040643	NM_199420.4(POLQ):c.16C>G (p.Arg6Gly)	LOC112872292, POLQ (R6G)	Single nucleotide variant (missense variant)	POLQ-related disorder	GLikely benign
Select item 2625872	NM_199420.4(POLQ):c.37T>G (p.Ser13Ala)	LOC112872292, POLQ (S13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625833	NM_199420.4(POLQ):c.33G>T (p.Arg11=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2625822	NM_199420.4(POLQ):c.151G>C (p.Ala51Pro)	LOC112872292, POLQ (A51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625811	NM_199420.4(POLQ):c.87C>T (p.Ala29=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2624477	NM_199420.4(POLQ):c.94C>G (p.Gln32Glu)	LOC112872292, POLQ (Q32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624447	NM_199420.4(POLQ):c.10C>T (p.Leu4=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2563763	NM_199420.4(POLQ):c.126G>A (p.Pro42=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2563762	NM_199420.4(POLQ):c.13C>A (p.Arg5Ser)	LOC112872292, POLQ (R5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560548	NM_199420.4(POLQ):c.35G>T (p.Arg12Leu)	LOC112872292, POLQ (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560537	NM_199420.4(POLQ):c.50C>T (p.Ser17Leu)	LOC112872292, POLQ (S17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497217	NM_199420.4(POLQ):c.36T>C (p.Arg12=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2497193	NM_199420.4(POLQ):c.52G>T (p.Asp18Tyr)	LOC112872292, POLQ (D18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497187	NM_199420.4(POLQ):c.130G>A (p.Gly44Ser)	LOC112872292, POLQ (G44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497161	NM_199420.4(POLQ):c.18G>T (p.Arg6=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449686	NM_199420.4(POLQ):c.88A>G (p.Ser30Gly)	LOC112872292, POLQ (S30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449058	NM_199420.4(POLQ):c.57G>T (p.Ser19=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449045	NM_199420.4(POLQ):c.60C>T (p.Phe20=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449009	NM_199420.4(POLQ):c.15T>G (p.Arg5=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448999	NM_199420.4(POLQ):c.51A>G (p.Ser17=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448956	NM_199420.4(POLQ):c.80G>A (p.Ser27Asn)	LOC112872292, POLQ (S27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448924	NM_199420.4(POLQ):c.73G>A (p.Gly25Ser)	LOC112872292, POLQ (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448900	NM_199420.4(POLQ):c.127C>T (p.Pro43Ser)	LOC112872292, POLQ (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1797414	NM_199420.4(POLQ):c.28C>T (p.Arg10Trp)	LOC112872292, POLQ (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1797228	NM_199420.4(POLQ):c.111C>T (p.Ser37=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1797195	NM_199420.4(POLQ):c.111C>G (p.Ser37=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1796188	NM_199420.4(POLQ):c.100C>T (p.Leu34Phe)	LOC112872292, POLQ (L34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1794732	NM_199420.4(POLQ):c.110C>T (p.Ser37Phe)	LOC112872292, POLQ (S37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1789261	NM_199420.4(POLQ):c.22G>A (p.Gly8Arg)	LOC112872292, POLQ (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1785883	NM_199420.4(POLQ):c.20G>A (p.Ser7Asn)	LOC112872292, POLQ (S7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1780368	NM_199420.4(POLQ):c.17G>A (p.Arg6Gln)	LOC112872292, POLQ (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1775460	NM_199420.4(POLQ):c.156A>G (p.Ala52=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1775458	NM_199420.4(POLQ):c.156A>C (p.Ala52=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1775224	NM_199420.4(POLQ):c.155C>T (p.Ala52Val)	LOC112872292, POLQ (A52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1774402	NM_199420.4(POLQ):c.151G>T (p.Ala51Ser)	POLQ, LOC112872292 (A51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1772890	NM_199420.4(POLQ):c.144C>T (p.Cys48=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1771719	NM_199420.4(POLQ):c.139C>A (p.Arg47Ser)	LOC112872292, POLQ (R47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770815	NM_199420.4(POLQ):c.135T>C (p.Leu45=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1769633	NM_199420.4(POLQ):c.130G>C (p.Gly44Arg)	LOC112872292, POLQ (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1769314	NM_199420.4(POLQ):c.129C>T (p.Pro43=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1768259	NM_199420.4(POLQ):c.97T>C (p.Phe33Leu)	POLQ, LOC112872292 (F33L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1767889	NM_199420.4(POLQ):c.96G>A (p.Gln32=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1767507	NM_199420.4(POLQ):c.95A>C (p.Gln32Pro)	LOC112872292, POLQ (Q32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1767159	NM_199420.4(POLQ):c.94C>A (p.Gln32Lys)	LOC112872292, POLQ (Q32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1766163	NM_199420.4(POLQ):c.91C>T (p.Pro31Ser)	LOC112872292, POLQ (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1765794	NM_199420.4(POLQ):c.90C>T (p.Ser30=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1765784	NM_199420.4(POLQ):c.90C>A (p.Ser30Arg)	LOC112872292, POLQ (S30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1765405	NM_199420.4(POLQ):c.89G>A (p.Ser30Asn)	LOC112872292, POLQ (S30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1765134	NM_199420.4(POLQ):c.126G>T (p.Pro42=)	POLQ, LOC112872292	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1762721	NM_199420.4(POLQ):c.125C>T (p.Pro42Leu)	LOC112872292, POLQ (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1761591	NM_199420.4(POLQ):c.7C>T (p.Leu3Phe)	LOC112872292, POLQ (L3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1761588	NM_199420.4(POLQ):c.7C>G (p.Leu3Val)	LOC112872292, POLQ (L3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1761116	NM_199420.4(POLQ):c.78C>T (p.Asp26=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760552	NM_199420.4(POLQ):c.7770G>C (p.Val2590=)	LOC129937343, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1759749	NM_199420.4(POLQ):c.75T>C (p.Gly25=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1758731	NM_199420.4(POLQ):c.73G>C (p.Gly25Arg)	LOC112872292, POLQ (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1758188	NM_199420.4(POLQ):c.72C>T (p.Gly24=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1756560	NM_199420.4(POLQ):c.69C>T (p.Ser23=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1756550	NM_199420.4(POLQ):c.69C>A (p.Ser23Arg)	LOC112872292, POLQ (S23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1755500	NM_199420.4(POLQ):c.67A>G (p.Ser23Gly)	LOC112872292, POLQ (S23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1753327	NM_199420.4(POLQ):c.63G>T (p.Ser21=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1752664	NM_199420.4(POLQ):c.121C>T (p.Pro41Ser)	LOC112872292, POLQ (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1749805	NM_199420.4(POLQ):c.120C>T (p.Ser40=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1749753	NM_199420.4(POLQ):c.57G>A (p.Ser19=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1748570	NM_199420.4(POLQ):c.55T>G (p.Ser19Ala)	LOC112872292, POLQ (S19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1743181	NM_199420.4(POLQ):c.47G>A (p.Gly16Asp)	LOC112872292, POLQ (G16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738634	NM_199420.4(POLQ):c.41A>G (p.Glu14Gly)	LOC112872292, POLQ (E14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1736847	NM_199420.4(POLQ):c.39A>G (p.Ser13=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1729953	NM_199420.4(POLQ):c.32G>A (p.Arg11Gln)	LOC112872292, POLQ (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728779	NM_199420.4(POLQ):c.31C>A (p.Arg11=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1727629	NM_199420.4(POLQ):c.30G>T (p.Arg10=)	LOC112872292, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1340151	GRCh37/hg19 3q13.33(chr3:121167126-121217243)x1	POLQ	Copy number loss	not provided	GUncertain significance
Select item 809604	GRCh37/hg19 3q13.33(chr3:121151151-121158963)x3	POLQ	Copy number gain	not provided	GUncertain significance

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 90