545[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 1270471	NC_000003.12:g.142449134A>G	ATR	Single nucleotide variant	not provided	GBenign
Select item 899823	NM_001184.4(ATR):c.*102C>T	ATR	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 1	GUncertain significance
Select item 343580	NM_001184.4(ATR):c.*72T>G	ATR	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 1	GUncertain significance
Select item 1761293	NM_001184.4(ATR):c.7931T>C (p.Met2644Thr)	ATR (M2580T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761247	NM_001184.4(ATR):c.7926A>G (p.Pro2642=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1761244	NM_001184.4(ATR):c.7924C>G (p.Pro2642Ala)	ATR (P2578A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2045708	NM_001184.4(ATR):c.7922C>T (p.Thr2641Ile)	ATR (T2577I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2567793	NM_001184.4(ATR):c.7913T>C (p.Leu2638Pro)	ATR (L2574P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2746667	NM_001184.4(ATR):c.7912C>T (p.Leu2638Phe)	ATR (L2574F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2453576	NM_001184.4(ATR):c.7906A>T (p.Met2636Leu)	ATR (M2636L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 668234	NM_001184.4(ATR):c.7902C>T (p.Cys2634=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 2891774	NM_001184.4(ATR):c.7900T>G (p.Cys2634Gly)	ATR (C2570G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1154900	NM_001184.4(ATR):c.7899A>G (p.Leu2633=)	ATR	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 2587579	NM_001184.4(ATR):c.7896A>T (p.Leu2632Phe)	ATR (L2632F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761058	NM_001184.4(ATR):c.7894T>G (p.Leu2632Val)	ATR (L2568V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761057	NM_001184.4(ATR):c.7894T>C (p.Leu2632=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2561363	NM_001184.4(ATR):c.7893C>G (p.Asn2631Lys)	ATR (N2567K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761049	NM_001184.4(ATR):c.7890A>G (p.Glu2630=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3332337	NM_001184.4(ATR):c.7887T>A (p.Asp2629Glu)	ATR (D2629E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761018	NM_001184.4(ATR):c.7885G>C (p.Asp2629His)	ATR (D2565H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761017	NM_001184.4(ATR):c.7885G>A (p.Asp2629Asn)	ATR (D2629N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2447387	NM_001184.4(ATR):c.7884T>C (p.Thr2628=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 93669	NM_001184.4(ATR):c.7875G>A (p.Gln2625=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign/Likely benign
Select item 3330518	NM_001184.4(ATR):c.7871T>C (p.Ile2624Thr)	ATR (I2624T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 899824	NM_001184.4(ATR):c.7864T>C (p.Tyr2622His)	ATR (Y2558H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1116460	NM_001184.4(ATR):c.7863T>C (p.His2621=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1760925	NM_001184.4(ATR):c.7861C>T (p.His2621Tyr)	ATR (H2621Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337461	NM_001184.4(ATR):c.7859T>C (p.Val2620Ala)	ATR (V2556A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1040916	NM_001184.4(ATR):c.7858G>A (p.Val2620Met)	ATR (V2620M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3221301	NM_001184.4(ATR):c.7857T>C (p.His2619=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1128141	NM_001184.4(ATR):c.7839G>A (p.Pro2613=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 2587546	NM_001184.4(ATR):c.7836G>A (p.Leu2612=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1760790	NM_001184.4(ATR):c.7829C>G (p.Thr2610Arg)	ATR (T2546R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2062704	NM_001184.4(ATR):c.7822dup (p.Arg2608fs)	ATR (R2544fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1760778	NM_001184.4(ATR):c.7823G>A (p.Arg2608Lys)	ATR (R2608K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221300	NM_001184.4(ATR):c.7818A>T (p.Arg2606=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 899825	NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln)	ATR (R2542Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3221299	NM_001184.4(ATR):c.7811A>G (p.Lys2604Arg)	ATR (K2540R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453582	NM_001184.4(ATR):c.7808T>C (p.Ile2603Thr)	ATR (I2539T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 963611	NM_001184.4(ATR):c.7802G>A (p.Gly2601Asp)	ATR (G2601D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698643	NM_001184.4(ATR):c.7800A>G (p.Gln2600=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1760648	NM_001184.4(ATR):c.7793G>T (p.Arg2598Leu)	ATR (R2534L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049768	NM_001184.4(ATR):c.7792C>T (p.Arg2598Ter)	ATR (R2598* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1555959	NM_001184.4(ATR):c.7791G>A (p.Gln2597=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1760618	NM_001184.4(ATR):c.7786G>A (p.Glu2596Lys)	ATR (E2532K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2963401	NM_001184.4(ATR):c.7784T>C (p.Ile2595Thr)	ATR (I2595T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1760608	NM_001184.4(ATR):c.7782C>T (p.Asp2594=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1468066	NM_001184.4(ATR):c.7780G>C (p.Asp2594His)	ATR (D2594H +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 2184125	NM_001184.4(ATR):c.7773T>C (p.His2591=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2567854	NM_001184.4(ATR):c.7771C>T (p.His2591Tyr)	ATR (H2527Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760551	NM_001184.4(ATR):c.7770C>A (p.Thr2590=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1633716	NM_001184.4(ATR):c.7770C>T (p.Thr2590=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 2453604	NM_001184.4(ATR):c.7769C>T (p.Thr2590Ile)	ATR (T2526I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332096	NM_001184.4(ATR):c.7768A>G (p.Thr2590Ala)	ATR (T2590A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2707416	NM_001184.4(ATR):c.7762-2A>C	ATR	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2831035	NM_001184.4(ATR):c.7762-8_7762-6del	ATR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1597565	NM_001184.4(ATR):c.7762-16T>C	ATR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2155556	NM_001184.4(ATR):c.7762-18T>C	ATR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678217	NM_001184.4(ATR):c.7762-174A>G	ATR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223476	NM_001184.4(ATR):c.7762-208T>C	ATR	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223483	NM_001184.4(ATR):c.7762-209G>T	ATR	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223484	NM_001184.4(ATR):c.7762-439T>C	ATR	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223490	NM_001184.4(ATR):c.7762-724C>T	ATR	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223492	NM_001184.4(ATR):c.7761+375C>T	ATR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217620	NM_001184.4(ATR):c.7761+279T>A	ATR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 809551	NM_001184.4(ATR):c.7761+2T>C	ATR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2614027	NM_001184.4(ATR):c.7760A>T (p.Lys2587Met)	ATR (K2523M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453528	NM_001184.4(ATR):c.7752C>T (p.Val2584=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1760425	NM_001184.4(ATR):c.7748T>C (p.Val2583Ala)	ATR (V2583A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760416	NM_001184.4(ATR):c.7746A>G (p.Glu2582=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1760406	NM_001184.4(ATR):c.7743A>G (p.Gly2581=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221298	NM_001184.4(ATR):c.7740T>C (p.Thr2580=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221296	NM_001184.4(ATR):c.7734T>C (p.Asn2578=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2496623	NM_001184.4(ATR):c.7734T>A (p.Asn2578Lys)	ATR (N2578K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1044549	NM_001184.4(ATR):c.7732A>T (p.Asn2578Tyr)	ATR (N2514Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1760335	NM_001184.4(ATR):c.7729C>T (p.Leu2577=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1587124	NM_001184.4(ATR):c.7728A>T (p.Pro2576=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1760330	NM_001184.4(ATR):c.7726C>T (p.Pro2576Ser)	ATR (P2576S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760327	NM_001184.4(ATR):c.7725G>C (p.Ala2575=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 158004	NM_001184.4(ATR):c.7725G>A (p.Ala2575=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1760325	NM_001184.4(ATR):c.7724C>A (p.Ala2575Glu)	ATR (A2575E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1009903	NM_001184.4(ATR):c.7724C>T (p.Ala2575Val)	ATR (A2511V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3221295	NM_001184.4(ATR):c.7718C>T (p.Ser2573Phe)	ATR (S2509F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330499	NM_001184.4(ATR):c.7712G>C (p.Gly2571Ala)	ATR (G2571A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760266	NM_001184.4(ATR):c.7710A>G (p.Lys2570=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1760247	NM_001184.4(ATR):c.7709A>G (p.Lys2570Arg)	ATR (K2506R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2447364	NM_001184.4(ATR):c.7707G>A (p.Val2569=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1760241	NM_001184.4(ATR):c.7707G>T (p.Val2569=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1760230	NM_001184.4(ATR):c.7705G>A (p.Val2569Met)	ATR (V2505M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453567	NM_001184.4(ATR):c.7702C>T (p.Pro2568Ser)	ATR (P2504S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760161	NM_001184.4(ATR):c.7692A>T (p.Glu2564Asp)	ATR (E2500D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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